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Sample records for albinism

  1. Albinism

    Science.gov (United States)

    ... Hot Topics Meningitis Choosing Your Mood Prescription Drug Abuse Healthy School Lunch Planner How Can I Help a Friend ... than standing out, teens with albinism may face bullying or prejudice. Voicing any frustration or sadness to a family member or friend who understands can help. So ...

  2. Oculocutaneous albinism

    OpenAIRE

    Brondum-Nielsen Karen; Ek Jakob; Grønskov Karen

    2007-01-01

    Abstract Oculocutaneous albinism (OCA) is a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes. The prevalence of all forms of albinism varies considerably worldwide and has been estimated at approximately 1/17,000, suggesting that about 1 in 70 people carry a gene for OCA. The clinical spectrum of OCA ranges, with OCA1A being the most severe type with a complete lack of melanin production throughout life, while...

  3. Oculocutaneous albinism

    Directory of Open Access Journals (Sweden)

    Brondum-Nielsen Karen

    2007-11-01

    Full Text Available Abstract Oculocutaneous albinism (OCA is a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes. The prevalence of all forms of albinism varies considerably worldwide and has been estimated at approximately 1/17,000, suggesting that about 1 in 70 people carry a gene for OCA. The clinical spectrum of OCA ranges, with OCA1A being the most severe type with a complete lack of melanin production throughout life, while the milder forms OCA1B, OCA2, OCA3 and OCA4 show some pigment accumulation over time. Clinical manifestations include various degrees of congenital nystagmus, iris hypopigmentation and translucency, reduced pigmentation of the retinal pigment epithelium, foveal hypoplasia, reduced visual acuity usually (20/60 to 20/400 and refractive errors, color vision impairment and prominent photophobia. Misrouting of the optic nerves is a characteristic finding, resulting in strabismus and reduced stereoscopic vision. The degree of skin and hair hypopigmentation varies with the type of OCA. The incidence of skin cancer may be increased. All four types of OCA are inherited as autosomal recessive disorders. At least four genes are responsible for the different types of the disease (TYR, OCA2, TYRP1 and MATP. Diagnosis is based on clinical findings of hypopigmentation of the skin and hair, in addition to the characteristic ocular symptoms. Due to the clinical overlap between the OCA forms, molecular diagnosis is necessary to establish the gene defect and OCA subtype. Molecular genetic testing of TYR and OCA2 is available on a clinical basis, while, at present, analysis of TYRP1 and MATP is on research basis only. Differential diagnosis includes ocular albinism, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, Griscelli syndrome, and Waardenburg syndrome type II. Carrier detection and prenatal diagnosis are possible when the disease causing mutations have been

  4. Genetics Home Reference: ocular albinism

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions ocular albinism ocular albinism Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description Ocular albinism is a genetic condition that primarily affects ...

  5. Albinism in Europe.

    Science.gov (United States)

    Mártinez-García, Mónica; Montoliu, Lluís

    2013-05-01

    Albinism is a rare genetic condition associated with a variable hypopigmentation phenotype, which can affect the pigmentation of only the eyes or both the eyes and the skin/hair, resulting in ocular (OA) or oculocutaneous albinism (OCA), respectively. At least four forms of OCA and one of OA are known, associated with TYR (OCA1), OCA2 (OCA2), TYRP1 (OCA3), SLC45A2 (OCA4) and GPR143 (OA1) loci, respectively. Additionally, the rarest syndromic forms of albinism, affecting the normal function of other organs, can be grouped in Hermansky-Pudlak syndrome (HPS1-9) and the Chediak-Higashi syndrome (CHS1). In summary, a total of 15 genes are currently associated with various types of albinism. However, new genes have been recently described, associated with autosomal recessive oculocutaneous albinism with highly similar phenotypes but diverse molecular origin, indicating that there are likely to be more than 15 genes whose mutations will be associated with albinism. In this review, we will describe the different types of albinism and comment on its prevalence in European countries. Some preclinical attempts for innovative therapeutic approaches of different types of albinism will be also discussed.

  6. Ocular straylight in albinism

    NARCIS (Netherlands)

    B. Kruijt; L. Franssen; L.J.J.M. Prick; J.M.J. van Vliet; T.J.T.P. van den Berg

    2011-01-01

    Albinism is an inherited disorder that affects the melanin biosynthesis pathway, which results in reduced or absent pigment formation. This may lead to increased light transmission through the iris and more reflected light from the fundus. Both these effects contribute to the occurrence of ocular st

  7. Complete albinism in a Podarcis muralis newborn

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    Filippo Spadola

    2007-01-01

    Full Text Available The authors describe a case of complete albinism in a Podarcis muralis newborn, from Chieti (Abruzzo, central Italy in September 2004. This is the first complete albinism case in a Podarcis spp. In the world.

  8. Albinism: Educational Techniques for Parents and Teachers.

    Science.gov (United States)

    Ashley, Julia R.; Cates, Dennis L.

    1992-01-01

    A survey of teachers of the visually impaired and adults with albinism or parents of children with albinism (total responses=144) found no use of Braille by the adults or children with albinism, awareness of the condition by almost all teachers, support for mainstreaming by all, and specific teaching suggestions from teachers. (DB)

  9. Genetics Home Reference: oculocutaneous albinism

    Science.gov (United States)

    ... make melanin, which reduces pigmentation in the skin, hair, and eyes. A lack of melanin in the retina leads to the vision problems ... oculocutaneous albinism type 2. This gene helps regulate melanin production ... however, they typically have red hair instead of the usual yellow, blond, or light ...

  10. Albinism: A Survey of Attitudes and Behavior.

    Science.gov (United States)

    Vander Kolk, Charles J.; Bright, Bobra C.

    1983-01-01

    Attitudes of tenth graders were more positive after receiving information about and exposure to albinism, an inherited condition affecting skin and hair color as well as visual functioning. Attitude difficulties are compounded by poor self-concept and racial factors. Albinic persons frequently know very little about the condition. (CL)

  11. Albinism: Improving Teacher and Caregiver Strategies for Meeting the Special Needs of Children with the Visual Disability of Ocular Albinism or Oculocutaneous Albinism (Birth to Age 14).

    Science.gov (United States)

    Ashley, Julia Robertson

    This practicum report addresses the educational needs of students with the visual disability of ocular or oculocutaneous albinism. Two booklets were developed, published, and distributed--one for regular education teachers of children with albinism and one specifically about the very young child with albinism. The booklets discuss the special…

  12. Incomplete albinism in Discoglossus pictus (Otth, 1837

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    Filippo Spadola

    2010-12-01

    Full Text Available The authors present an incomplete albinism case in a Discoglossus pictus subject found in Sicily. This is the first note for Italian territory, the second for the species and the third for Discoglossus genus.

  13. The experience of people with oculocutaneous albinism

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    Mmuso B.J. Pooe- Monyemore

    2012-07-01

    Full Text Available This article reports the experiences of people with oculocutaneous albinism in South Africa. Oculocutaneous albinism is an inherited disorder characterised by the defective production of melanin, with little or no pigmentation in the skin, hair and eyes. This condition is found globally, with a high prevalence in sub-Saharan Africa and in clusters in South America. People with this condition are often stigmatised and discriminated against owing to myths and superstitions held by the public about the condition. To date no studies have explored the psychosocial aspects of oculocutaneous albinism. A qualitative study was conducted in Johannesburg, South Africa during 2007 where a purposive sample of 15 members of the black population with oculocutaneous albinism participated in in-depth individualphenomenological interviews. One central question was posed to facilitate the interviews: Could you please share your experience as a person with albinism? Data from the interviews were analysed using Collaizi’s qualitative data analysis method and three main themesemerged: (1 perceptions of the internal environment, for example the self; (2 experiences in the external environment, for example family and community; and (3 the need for selfdevelopment and growth based on their experiences. Recommendations are made to enhance the self-concept of and promote a sense of belonging, self-development and growth in people with oculocutaneous albinism.

  14. The Student with Albinism in the Regular Classroom.

    Science.gov (United States)

    Ashley, Julia Robertson

    This booklet, intended for regular education teachers who have children with albinism in their classes, begins with an explanation of albinism, then discusses the special needs of the student with albinism in the classroom, and presents information about adaptations and other methods for responding to these needs. Special social and emotional…

  15. Oculocutaneous albinism complicated with an ulcerated plaque

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    Lokanatha Keshavalu

    2013-04-01

    Full Text Available A 32-year-old male with a history of albinism and farmer by occupation presented with an ulcerated plaque on the right wrist. The patient had light eyes, hair, and skin. Physical examination showed extensive photodamage. A skin biopsy specimen from the plaque revealed a well-differentiated squamous-cell carcinoma. Wide surgical excision was done. The most common types of oculocutaneous albinism (OCA, OCA 1 and OCA 2, are autosomal recessive disorders of pigmentation that commonly affect the skin, hair and eyes. Photodamage and skin cancers plague patients with albinism. Albinos face a myriad of social and medical issues. Importance of photoprotection, skin cancer surveillance and treatment has been stressed upon in this report.

  16. Albinism in Africa as a public health issue

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    Hong Esther S

    2006-08-01

    Full Text Available Abstract Background Oculocutaneous albinism (OCA is a genetically inherited autosomal recessive condition and OCA2, tyrosine-positive albinism, is the most prevalent type found throughout Africa. Due to the lack of melanin, people with albinism are more susceptible to the harmful effects of ultraviolet radiation exposure. This population must deal with issues such as photophobia, decreased visual acuity, extreme sun sensitivity and skin cancer. People with albinism also face social discrimination as a result of their difference in appearance. The World Health Organization is currently investigating the issues concerning this vulnerable population. Methods Systematic electronic search of articles in PubMed concerning albinism in Africa. Furthermore, a World Health Organization (WHO pilot survey of albinism was drafted in English, French and Portuguese, and distributed to African countries through WHO African Regional Offices (AFRO in an attempt to gather further information on albinism. Results Epidemiologic data on albinism, such as prevalence, were available for South Africa, Zimbabwe, Tanzania and Nigeria. Prevalences as high as 1 in 1,000 were reported for selected populations in Zimbabwe and other specific ethnic groups in Southern Africa. An overall estimate of albinism prevalences ranges from 1/5,000 – 1/15,000. In addition, both the literature review and the survey underscored the medical and social issues facing people with albinism. Conclusion The estimated prevalence of albinism suggests the existence of tens of thousands of people living with albinism in Africa. This finding reiterates the need for increased awareness of and public health interventions for albinism in order to better address the medical, psychological and social needs of this vulnerable population.

  17. A Comparison of the Interactive Play Behaviours between Children with Albinism and Their Siblings and Children without Albinism and Their Non-Albino Siblings

    Science.gov (United States)

    Javangwe, Gwatirera; Mukondyo, Rachel Z.

    2012-01-01

    The study explored the nature of the interactive play behaviours of children with albinism and children without albinism and compared the interactive behaviours of both children with albinism and children without albinism. Naturalistic observations were conducted during periods of free play, using the interactive play behaviour checklist aided by…

  18. Management of visual disturbances in albinism: a case report

    OpenAIRE

    Omar Rokiah; Idris Siti; Meng Chung; Knight Victor

    2012-01-01

    Abstract Introduction A number of vision defects have been reported in association with albinism, such as photophobia, nystagmus and astigmatism. In many cases only prescription sunglasses are prescribed. In this report, the effectiveness of low-vision rehabilitation in albinism, which included prescription of multiple visual aids, is discussed. Case presentation We present the case of a 21-year-old Asian woman with albinism and associated vision defects. Her problems were blurring of distant...

  19. Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations

    OpenAIRE

    Khordadpoor-Deilamani, Faravareh; Akbari, Mohammad Taghi; Karimipoor, Morteza; Javadi, Gholamreza

    2015-01-01

    Purpose Albinism is a heterogeneous genetic disorder of melanin synthesis that results in hypopigmented eyes (in patients with ocular albinism) or hair, skin, and eyes (in individuals with oculocutaneous albinism). It is associated with decreased visual acuity, nystagmus, strabismus, and photophobia. The tyrosinase gene is known to be involved in both oculocutaneous albinism and autosomal recessive ocular albinism. In this study, we aimed to screen the mutations in the TYR gene in the nonsynd...

  20. Prosthodontic management of an albinism patient-dental implications and management

    OpenAIRE

    Murthy, Varsha; V, Yuvraj; Thomas, Shaji; Nair, Preeti

    2013-01-01

    Albinism is a congenital hypopigmentary disorder. Albinism is due to the dysfunction of the melanin-producing cells (melanocytes) resulting in defective production of melanin from tyrosine through a complex pathway of metabolic reactions. Little is known about the varied dental features that albinism presents with. This case report summarises the features encountered in albinism, the different oral findings available in the literature and also presents a case of an albinism patient treated wi...

  1. Albinism: Particular attention to the ocular motor system

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    Richard W Hertle

    2013-01-01

    Full Text Available The purpose of this report is to summarize an understanding of the ocular motor system in patients with albinism. Other than the association of vertical eccentric gaze null positions and asymmetric, (a periodic alternating nystagmus in a large percentage of patients, the ocular motor system in human albinism does not contain unique pathology, rather has "typical" types of infantile ocular oscillations and binocular disorders. Both the ocular motor and afferent visual system are affected to varying degrees in patients with albinism, thus, combined treatment of both systems will maximize visual function.

  2. Albinism: particular attention to the ocular motor system.

    Science.gov (United States)

    Hertle, Richard W

    2013-01-01

    The purpose of this report is to summarize an understanding of the ocular motor system in patients with albinism. Other than the association of vertical eccentric gaze null positions and asymmetric, (a) periodic alternating nystagmus in a large percentage of patients, the ocular motor system in human albinism does not contain unique pathology, rather has "typical" types of infantile ocular oscillations and binocular disorders. Both the ocular motor and afferent visual system are affected to varying degrees in patients with albinism, thus, combined treatment of both systems will maximize visual function.

  3. Basal cell carcinoma in oculo-cutaneous albinism

    OpenAIRE

    Ajay Kumar; Ashish Chauhan; Subhash Kashyap

    2016-01-01

    The basal cell carcinoma is the most common skin tumour especially affecting the white individuals worldwide. The exact incidence of basal cell carcinoma is not known from India but non melanoma skin cancers comprises about 1-2% of cutaneous tumour in India. The most common skin tumour is squamous cell carcinoma in albinism and the incidence of basal cell carcinoma is less. Hereby, we report a peculiar case of basal cell carcinoma in albinism to highlights the importance of early recognition ...

  4. Abnormal lateral geniculate nucleus and optic chiasm in human albinism.

    Science.gov (United States)

    Mcketton, Larissa; Kelly, Krista R; Schneider, Keith A

    2014-08-01

    Our objective was to measure how the misrouting of retinal ganglion cell (RGC) fibers affects the organization of the optic chiasm and lateral geniculate nuclei (LGN) in human albinism. We compared the chiasmal structures and the LGN in both pigmented controls and patients with albinism by using high-resolution structural magnetic resonance imaging (MRI). We studied 12 patients with oculocutaneous albinism and 12 age-matched pigmented controls. Using a 3T MRI scanner, we acquired a T1 -weighted three-dimensional magnetization-prepared rapid gradient-echo (MPRAGE) image of the whole brain, oriented so that the optic nerves, chiasm, and tracts were in the same plane. We acquired multiple proton density-weighted images centered on the thalamus and midbrain, and averaged them to increase the signal, enabling precise manual tracing of the anatomical boundaries of the LGN. Albinism patients exhibited significantly smaller diameters of the optic nerves, chiasm and tracts, and optic chiasm and LGN volume compared with controls (P albinism compared with the control group can be attributed to the abnormal crossing of optic fibers and the reduction of RGCs in the central retina. The volume of the LGN devoted to the center of the visual field may be reduced in albinism due to fewer RGCs representing the area where the fovea would normally lie. Our data may be clinically useful in addressing how genetic deficits compromise proper structural and functional development in the brain.

  5. First case of synophthalmia and albinism in the Pacific angel shark Squatina californica.

    Science.gov (United States)

    Escobar-Sánchez, O; Moreno-Sánchez, X G; Aguilar-Cruz, C A; Abitia-Cárdenas, L A

    2014-08-01

    The first record in Mexican waters of albinism and synophthalmia (partial cyclopia) in the Pacific angel shark, Squatina californica is presented. Albinism is not lethal, but synophthalmia may cause the death of the individual immediately after birth.

  6. Oculocutaneous Albinism Type 4 Is One of the Most Common Types of Albinism in Japan

    OpenAIRE

    Inagaki, Katsuhiko; Suzuki, Tamio; Shimizu, Hiroshi; Ishii, Norihisa; Umezawa, Yoshinori; Tada, Joji; Kikuchi, Noriaki; Takata, Minoru; Takamori, Kenji; Kishibe, Mari; Tanaka, Michi; Miyamura, Yoshinori; Ito, Shiro; Tomita, Yasushi

    2004-01-01

    Oculocutaneous albinism (OCA) is a complex genetic disease with great clinical heterogeneity. Four different types of OCA have been reported to date (OCA1, OCA2, OCA3, and OCA4). MATP was recently reported in a single Turkish OCA patient as the fourth pathological gene, but no other patients with OCA4 have been reported. Here, we report the mutational profile of OCA4, determined by genetic analysis of the MATP gene in a large Japanese population with OCA. Of 75 unrelated patients that were sc...

  7. Increasing the complexity: new genes and new types of albinism.

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    Montoliu, Lluís; Grønskov, Karen; Wei, Ai-Hua; Martínez-García, Mónica; Fernández, Almudena; Arveiler, Benoît; Morice-Picard, Fanny; Riazuddin, Saima; Suzuki, Tamio; Ahmed, Zubair M; Rosenberg, Thomas; Li, Wei

    2014-01-01

    Albinism is a rare genetic condition globally characterized by a number of specific deficits in the visual system, resulting in poor vision, in association with a variable hypopigmentation phenotype. This lack or reduction in pigment might affect the eyes, skin, and hair (oculocutaneous albinism, OCA), or only the eyes (ocular albinism, OA). In addition, there are several syndromic forms of albinism (e.g. Hermansky-Pudlak and Chediak-Higashi syndromes, HPS and CHS, respectively) in which the described hypopigmented and visual phenotypes coexist with more severe pathological alterations. Recently, a locus has been mapped to the 4q24 human chromosomal region and thus represents an additional genetic cause of OCA, termed OCA5, while the gene is eventually identified. In addition, two new genes have been identified as causing OCA when mutated: SLC24A5 and C10orf11, and hence designated as OCA6 and OCA7, respectively. This consensus review, involving all laboratories that have reported these new genes, aims to update and agree upon the current gene nomenclature and types of albinism, while providing additional insights from the function of these new genes in pigment cells.

  8. The early-stage diagnosis of albinic embryos by applying optical coherence tomography

    Science.gov (United States)

    Yang, Bor-Wen; Wang, Shih-Yuan; Wang, Yu-Yen; Cai, Jyun-Jhang; Chang, Chung-Hao

    2013-09-01

    Albinism is a kind of congenital disease of abnormal metabolism. Poecilia reticulata (guppy fish) is chosen as the model to study the development of albinic embryos as it is albinic, ovoviviparous and with short life period. This study proposed an imaging method for penetrative embryo investigation using optical coherence tomography. By imaging through guppy mother’s reproduction purse, we found the embryo’s eyes were the early-developed albinism features. As human’s ocular albinism typically appear at about four weeks old, it is the time to determine if an embryo will grow into an albino.

  9. First report of partial albinism in genus Thrichomys (Rodentia: Echimyidae

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    Antonio Carlos da S.A. Neves

    2014-01-01

    Full Text Available Reports about albinism in rodents are common. In the family Echimyidae, however, albinism is very rare. This is the second case of coat color variation reported within Echimyidae and the first for the genus Thrichomys. The pelages of Thrichomys pachyurus individuals with normal and variant coat color were observed under a fluorescent artificial light and were examined with a stereoscopic microscope. The descriptions of pelage color were based on the book "Color Standards and Color Nomenclature". The predominantly white pattern of coat color in individuals of T. pachyurus suggests a partial albinism caused by delay in migration time of melanoblasts from neural crest to epidermis. The habitat of T. pachyurus has a heavy vegetative cover, which offers natural protection against predators and high-quality nutrition.

  10. Brown oculocutaneous albinism is allelic to tyrosinase-positive oculocutaneous albinism in southern African Negroids

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    Manga, P.; Ramsay, M.; Kromberg, J.; Jenkins, T. [Univ. of the Witwatersrand, Johannesburg (South Africa)

    1994-09-01

    Brown oculocutaneous albinism (BOCA) is an autosomal recessive disorder involving a decrease in pigment of the skin, hair and eyes as well as decreased visual acuity. Evidence from two families who have co-existent BOCA and tyrosinase-positive oculocutaneous albinism (ty-pos OCA), suggests that the two conditions are allelic. Ty-pos OCA has been mapped to chromosome 15q11-q12 and the gene has been confirmed to be the human homologue (P) of the mouse pink-eyed dilute gene (p). Seven markers known to be linked to the P gene, D15S11, D15S10, MS14, GABA3, GABA5, IR10 and pCMW-1, were used to construct haplotypes in 5 families with BOCA. The haplotype data was subjected to linkage analysis and a maximum lod score of 2.85 ({theta} 0.0) was obtained. It has been reported previously that BOCA, in an Afro-American, was due to the lack of tyrosinase-protein 1 (Trp-1) in melanocytes. Trp-1 has been excluded as the disease-causing locus in the southern African families by linkage analysis with D9S43. A lod score of -2.02 was obtained at {theta} = 0.02.

  11. Mutational Analysis of Oculocutaneous Albinism: A Compact Review

    OpenAIRE

    2014-01-01

    Oculocutaneous albinism (OCA) is an autosomal recessive disorder caused by either complete lack of or a reduction of melanin biosynthesis in the melanocytes. The OCA1A is the most severe type with a complete lack of melanin production throughout life, while the milder forms OCA1B, OCA2, OCA3, and OCA4 show some pigment accumulation over time. Mutations in TYR, OCA2, TYRP1, and SLC45A2 are mainly responsible for causing oculocutaneous albinism. Recently, two new genes SLC24A5 and C10orf11 are ...

  12. Basal cell carcinoma in oculo-cutaneous albinism

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    Ajay Kumar

    2016-06-01

    Full Text Available The basal cell carcinoma is the most common skin tumour especially affecting the white individuals worldwide. The exact incidence of basal cell carcinoma is not known from India but non melanoma skin cancers comprises about 1-2% of cutaneous tumour in India. The most common skin tumour is squamous cell carcinoma in albinism and the incidence of basal cell carcinoma is less. Hereby, we report a peculiar case of basal cell carcinoma in albinism to highlights the importance of early recognition and diagnosis of suspected lesions by performing histopathological examination in unusual circumstances. [Int J Res Med Sci 2016; 4(6.000: 2452-2454

  13. Pediatric Patient with Oculocutaneous Albinism: A Case Report

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    Casandra Solis, OD

    2015-08-01

    Full Text Available Background: Oculocutaneous albinism (OCA is a rare genetic disorder that occurs due to a mutation in one of the genes that affects the melanin biosynthesis pathway. OCA is autosomal recessive and affects people of all ethnic backgrounds. Oculocutaneous albinism often presents with nystagmus and pale coloring of the skin and hair. The patient with OCA has normal development, intelligence, fertility, and lifespan. Case Report: A two-month-old female presented with a new-onset intermittent nystagmus. A complete vision exam resulted in a diagnosis of oculocutaneous albinism with nystagmus secondary to foveal hypoplasia. The findings were discussed with the parents, and a follow-up was scheduled. At the five-month follow-up, the patient was progressing well and had a reduction in the amplitude of her nystagmus. Conclusion: Oculocutaneous albinism is often discovered first with a visit to the eye care professional due to a recent onset of nystagmus. Foveal hypoplasia causes an onset of nystagmus between two and three months. Additional ocular manifestations include reduced visual acuity, strabismus, high refractive error, amblyopia, increased decussation of visual fibers, color vision defects, photophobia, transillumination, and hypopigmentation of the retinal pigmented epithelium. Assistance for the child with OCA consists of correcting the refractive error; amblyopia treatment when necessary; and concurrent physical, occupational, and low vision therapy. Communication and collaboration with other medical specialties is warranted throughout life.

  14. Changes in brain morphology in albinism reflect reduced visual acuity.

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    Bridge, Holly; von dem Hagen, Elisabeth A H; Davies, George; Chambers, Claire; Gouws, Andre; Hoffmann, Michael; Morland, Antony B

    2014-07-01

    Albinism, in humans and many animal species, has a major impact on the visual system, leading to reduced acuity, lack of binocular function and nystagmus. In addition to the lack of a foveal pit, there is a disruption to the routing of the nerve fibers crossing at the optic chiasm, resulting in excessive crossing of fibers to the contralateral hemisphere. However, very little is known about the effect of this misrouting on the structure of the post-chiasmatic visual pathway, and the occipital lobes in particular. Whole-brain analyses of cortical thickness in a large cohort of subjects with albinism showed an increase in cortical thickness, relative to control subjects, particularly in posterior V1, corresponding to the foveal representation. Furthermore, mean cortical thickness across entire V1 was significantly greater in these subjects compared to controls and negatively correlated with visual acuity in albinism. Additionally, the group with albinism showed decreased gyrification in the left ventral occipital lobe. While the increase in cortical thickness in V1, also found in congenitally blind subjects, has been interpreted to reflect a lack of pruning, the decreased gyrification in the ventral extrastriate cortex may reflect the reduced input to the foveal regions of the ventral visual stream.

  15. Albinism in Botswana Junior Secondary Schools: A Double Case Study

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    Dart, Gareth; Nkanotsang, Tiroyaone; Chizwe, Ose; Kowa, Lily

    2010-01-01

    Pupils with albinism potentially face a number of challenges in accessing quality education in schools in Botswana. Physical issues such as poor eyesight related to the condition and the problems of sensitive skin in such a dry and warm climate are both contributing factors to making learning problematic for some pupils. This study by Gareth Dart…

  16. Refractive errors in Cameroonians diagnosed with complete oculocutaneous albinism

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    Eballé AO

    2013-07-01

    Full Text Available André Omgbwa Eballé1,3, Côme Ebana Mvogo2, Christelle Noche4, Marie Evodie Akono Zoua2, Andin Viola Dohvoma21Faculty of Medicine and Pharmaceutical Sciences, University of Douala, Douala, Cameroon, 2Faculty of Medicine and Biomedical Sciences, University of Yaoundé I, Yaoundé, Cameroon; 3Yaoundé Gynaeco-obstetric and Paediatric Hospital. Yaoundé, Cameroon; 4Faculty of Medicine, Université des Montagnes. Bangangté, CameroonBackground: Albinism causes significant eye morbidity and amblyopia in children. The aim of this study was to determine the refractive state in patients with complete oculocutaneous albinism who were treated at the Gynaeco-Obstetric and Paediatric Hospital, Yaoundé, Cameroon and evaluate its effect on vision.Methods: We carried out this retrospective study at the ophthalmology unit of our hospital. All oculocutaneous albino patients who were treated between March 1, 2003 and December 31, 2011 were included.Results: Thirty-five patients (70 eyes diagnosed with complete oculocutaneous albinism were enrolled. Myopic astigmatism was the most common refractive error (40%. Compared with myopic patients, those with myopic astigmatism and hypermetropic astigmatism were four and ten times less likely, respectively, to demonstrate significant improvement in distance visual acuity following optical correction.Conclusion: Managing refractive errors is an important way to reduce eye morbidity-associated low vision in oculocutaneous albino patients.Keywords: albinism, visual acuity, refraction, Cameroon

  17. Premolarized double dens in dente in albinism - A case report

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    Suprabha B

    2005-09-01

    Full Text Available Dens in dente are known to be associated with many dental abnormalities such as taurodontism microdontia, gemination, and dens evaginatus. This paper describes a rare case of double dens in dente in a lateral incisor with crown morphology similar to a premolar present in a patient with features of albinism. Problems associated with this condition and their management is discussed.

  18. A nonsense mutation in the tyrosinase gene causes albinism in water buffalo

    OpenAIRE

    Damé Maria Cecília; Xavier Gildenor; Oliveira-Filho José; Borges Alexandre; Oliveira Henrique; Riet-Correa Franklin; Schild Ana

    2012-01-01

    Abstract Background Oculocutaneous albinism (OCA) is an autosomal recessive hereditary pigmentation disorder affecting humans and several other animal species. Oculocutaneous albinism was studied in a herd of Murrah buffalo to determine the clinical presentation and genetic basis of albinism in this species. Results Clinical examinations and pedigree analysis were performed in an affected herd, and wild-type and OCA tyrosinase mRNA sequences were obtained. The main clinical findings were phot...

  19. Being black in a white skin: Beliefs and stereotypes around albinism at a South African university

    Directory of Open Access Journals (Sweden)

    Relebohile Phatoli

    2015-02-01

    Full Text Available Background: Partly because of the legacy of apartheid, and despite being a constitutional democracy, South Africa continues to be a deeply divided society, particularly along racial lines. In this context many people with albinism do not fit neatly into black and white categories and are likely to experience social discrimination and marginalisation.Objectives: The study endeavoured to explore the beliefs and practices regarding albinism within a South African university, and the availability of support services. Method: The research was located within an interpretive qualitative paradigm and was framed within the theories of stigma, discrimination and ‘othering’. Interviews were conducted with five students with albinism and 10 students without albinism. Results: Findings confirmed the existence of myths and stereotypes regarding albinism. Students with albinism tended to exclude themselves from the rest of the student community to avoid discrimination and stereotypes around their condition. Conclusion: People with albinism can teach us about social constructions of race, colour and relations between minority groups and the majority culture. Results have implications for schools, disability units at universities, and albinism societies in terms of opening up channels of communication between people with albinism and the general public and fostering knowledge and awareness thereof.

  20. The Effects of the Physical Features Associated with Albinism on the Self-Esteem of African American Youths.

    Science.gov (United States)

    Gold, Moniqueka E.

    2002-01-01

    This study explored the effects of the physical features associated with albinism on three groups of African American youths (ages 14-19) with albinism: those with no disabilities, those with visual impairments, and those with oculocutaneous albinism. No significant differences in self-esteem were found among the three groups. (Contains…

  1. Informed reasoning: repositioning of nitisinone to treat oculocutaneous albinism

    OpenAIRE

    Manga, Prashiela; Orlow, Seth J.

    2011-01-01

    Oculocutaneous albinism (OCA) is a group of genetic disorders characterized by hypopigmentation of the skin, hair, and eyes. Affected individuals experience reduced visual acuity and substantially increased skin cancer risk. There are four major types of OCA (OCA1–OCA4) that result from disruption in production of melanin from tyrosine. Current treatment options for individuals with OCA are limited to attempts to correct visual problems and counseling to promote use of sun protective measures...

  2. Quantitative and Qualitative Study of Dermatoglyphic Patterns in Albinism

    Directory of Open Access Journals (Sweden)

    Zahra Ghodsi

    2012-09-01

    Full Text Available The changes of dermal ridges in albinism patients were studied. The results obtained from subjects with albinism were compared with healthy subjects. A number of 30 patients were finally selected as our sample sizes. To gain a better understanding the results, a case-control study with the similar number of cases and control was designed. The related statistical test, t-test and chi-square, were considered to evaluate whether the discrepancy is statistically significant. The results indicated that a-b ridge counts of the right side were decreased significantly (p = 0.04. Moreover, the discrepancy between cases and controls for the case total a-b ridge count (TABRC was statistically significant (p = 0.06 at 10% significant level. Furthermore, based on the visual analysis, there was no strong evidence for the differences between cases and controls from the fingerprint shapes point of view. The general result is that dermatoglyphic can be considered as a valuable aid and promising method for genetic analysis and albinism studies.

  3. Nystagmus Does Not Limit Reading Ability in Albinism.

    Directory of Open Access Journals (Sweden)

    Muriel Dysli

    Full Text Available Subjects with albinism usually suffer from nystagmus and reduced visual acuity, which may impair reading performance. The contribution of nystagmus to decreased reading ability is not known. Low vision and nystagmus may have an additive effect. We aimed to address this question by motion compensation of the nystagmus in affected subjects and by simulating nystagmus in healthy controls.Reading speed and eye movements were assessed in 9 subjects with nystagmus associated with albinism and in 12 healthy controls. We compared the reading ability with steady word presentation and with words presented on a gaze contingent display where words move in parallel to the nystagmus and thus correct for the nystagmus. As the control, healthy subjects were asked to read words and texts in steady reading conditions as well as text passages that moved in a pattern similar to nystagmus.Correcting nystagmus with a gaze contingent display neither improved nor reduced the reading speed for single words. Subjects with nystagmus and healthy participants achieved comparable reading speed when reading steady texts. However, movement of text in healthy controls caused a significantly reduced reading speed and more regressive saccades.Our results argue against nystagmus as the rate limiting factor for reading speed when words were presented in high enough magnification and support the notion that other sensory visual impairments associated with albinism (for example reduced visual acuity might be the primary causes for reading impairment.

  4. Management of visual disturbances in albinism: a case report

    Directory of Open Access Journals (Sweden)

    Omar Rokiah

    2012-09-01

    Full Text Available Abstract Introduction A number of vision defects have been reported in association with albinism, such as photophobia, nystagmus and astigmatism. In many cases only prescription sunglasses are prescribed. In this report, the effectiveness of low-vision rehabilitation in albinism, which included prescription of multiple visual aids, is discussed. Case presentation We present the case of a 21-year-old Asian woman with albinism and associated vision defects. Her problems were blurring of distant vision, glare and her dissatisfaction with her current auto-focus spectacle-mounted telescope device, which she reported as being heavy as well as cosmetically unacceptable. We describe how low-vision rehabilitation using multiple visual aids, namely spectacles, special iris-tinted contact lenses with clear pupils, and bi-level telemicroscopic apparatus devices improved her quality of life. Subsequent to rehabilitation our patient is happier and continues to use the visual aids. Conclusions Contact lenses with a special iris tint and clear pupil area are useful aids to reduce the glare experienced by albinos. Bi-level telemicroscopic apparatus telemicroscopes fitted onto our patient’s prescription spectacles were cosmetically acceptable and able to improve her distance vision. As a result these low-vision rehabilitation approaches improved the quality of life of our albino patient.

  5. Mutational analysis of oculocutaneous albinism: a compact review.

    Science.gov (United States)

    Kamaraj, Balu; Purohit, Rituraj

    2014-01-01

    Oculocutaneous albinism (OCA) is an autosomal recessive disorder caused by either complete lack of or a reduction of melanin biosynthesis in the melanocytes. The OCA1A is the most severe type with a complete lack of melanin production throughout life, while the milder forms OCA1B, OCA2, OCA3, and OCA4 show some pigment accumulation over time. Mutations in TYR, OCA2, TYRP1, and SLC45A2 are mainly responsible for causing oculocutaneous albinism. Recently, two new genes SLC24A5 and C10orf11 are identified that are responsible to cause OCA6 and OCA7, respectively. Also a locus has been mapped to the human chromosome 4q24 region which is responsible for genetic cause of OCA5. In this paper, we summarized the clinical and molecular features of OCA genes. Further, we reviewed the screening of pathological mutations of OCA genes and its molecular mechanism of the protein upon mutation by in silico approach. We also reviewed TYR (T373K, N371Y, M370T, and P313R), OCA2 (R305W), TYRP1 (R326H and R356Q) mutations and their structural consequences at molecular level. It is observed that the pathological genetic mutations and their structural and functional significance of OCA genes will aid in development of personalized medicine for albinism patients.

  6. Myths, Stereotypes and Self-Perception: The Impact of Albinism on Self-Esteem

    Science.gov (United States)

    Palmer, Carolyn

    2007-01-01

    Albinism has the potential to affect young people both emotionally and psychologically. Their condition is unique and is surrounded by myths and stereotypes. The unusual appearance of children with oculocutaneous albinism draws attention to them and their vision impairment can impact on their development of social skills and peer relationships. In…

  7. Synchrony of oculocutaneous albinism, the Prader-Willi syndrome, and a normal karyotype.

    OpenAIRE

    Wallis, C. E.; Beighton, P H

    1989-01-01

    A Chinese girl with oculocutaneous albinism has the Prader-Willi syndrome and a normal karyotype. This association emphasises the importance of further molecular study of the 15(q12) region of the genome in the search for the locus of an albinism gene.

  8. Tyrosinase gene mutations associated with type IB ("yellow") oculocutaneous albinism.

    OpenAIRE

    Giebel, L B; Tripathi, R. K.; Strunk, K M; Hanifin, J M; Jackson, C E; King, R A; Spritz, R A

    1991-01-01

    We have identified three different tyrosinase gene mutant alleles in four unrelated patients with type IB ("yellow") oculocutaneous albinism (OCA) and thus have demonstrated that type IB OCA is allelic to type IA (tyrosinase negative) OCA. In an inbred Amish kindred, type IB OCA results from homozygosity for a Pro----Leu substitution at codon 406. In the second family, type IB OCA results from compound heterozygosity for a type IA OCA allele (codon 81 Pro----Leu) and a novel type IB allele (c...

  9. High frequency of albinism and tumours in free-living birds around Chernobyl.

    Science.gov (United States)

    Møller, A P; Bonisoli-Alquati, A; Mousseau, T A

    2013-09-18

    The effects of radioactive contamination on the phenotype of free-living organisms are poorly understood, mainly because of the difficulty of capturing the large numbers of individual specimens that are required to quantify rare events such as albinism and tumour formation. We hypothesized that the frequency of abnormalities like albinism and the frequency of radiation-induced diseases like cancer would increase with the level of background radiation, that the two markers of radiation would be positively correlated, and that the reduction in abundance of animals would be greater in species with a higher frequency of albinism and tumour formation, if these markers reliably reflected poor viability. Here we analyzed the frequency of albinistic feathers and tumours in a sample of 1669 birds captured during 2010-2012 at eight sites around Chernobyl that varied in level of background radiation from 0.02 to more than 200μSv/h. We recorded 111 cases of partial albinism and 25 cases of tumour formation. Nominal logistic models were used to partition the variance into components due to species and background radiation. Radiation was a strong predictor of the two markers in birds, with a small, but significant effect of species for albinism. The slope of the relationship between abundance and radiation in different bird species was significantly inversely correlated with the frequency of albinism and tumours, as was to be expected if a common underlying cause (i.e. radiation) affects both variables. These findings are consistent with the hypothesis that background radiation is a cause of albinism and tumours, that albinism and tumours are biomarkers of radiation exposure, and that high frequencies of albinism and tumours were present despite the low viability of birds with these conditions.

  10. Posterior staphyloma in oculocutaneous albinism: another possible cause of reduced visual acuity.

    Science.gov (United States)

    Lee, Susan; Schimmenti, Lisa A; King, Richard A; Brilliant, Murray; Anderson, Jennifer L; Schoonveld, Cheri; Summers, C Gail

    2015-12-01

    Posterior staphyloma is typically associated with myopic degeneration and has not been recognized as a cause of reduced visual acuity in albinism. We report 3 cases of posterior staphyloma, each with oculocutaneous albinism (OCA) defined by phenotype and genotype. Two cases are biological sisters with OCA type 2; one was myopic and the other was hyperopic. The third case involves a man with OCA associated with Hermansky-Pudlak syndrome (HPS-5). Staphyloma may be another cause of reduced visual acuity in albinism, particularly with increasing age. It may occur in association with myopia or hyperopia. PMID:26691042

  11. Posterior staphyloma in oculocutaneous albinism: another possible cause of reduced visual acuity.

    Science.gov (United States)

    Lee, Susan; Schimmenti, Lisa A; King, Richard A; Brilliant, Murray; Anderson, Jennifer L; Schoonveld, Cheri; Summers, C Gail

    2015-12-01

    Posterior staphyloma is typically associated with myopic degeneration and has not been recognized as a cause of reduced visual acuity in albinism. We report 3 cases of posterior staphyloma, each with oculocutaneous albinism (OCA) defined by phenotype and genotype. Two cases are biological sisters with OCA type 2; one was myopic and the other was hyperopic. The third case involves a man with OCA associated with Hermansky-Pudlak syndrome (HPS-5). Staphyloma may be another cause of reduced visual acuity in albinism, particularly with increasing age. It may occur in association with myopia or hyperopia.

  12. Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism

    DEFF Research Database (Denmark)

    Grønskov, Karen; Dooley, Christopher M; Østergaard, Elsebet;

    2013-01-01

    Autosomal-recessive albinism is a hypopigmentation disorder with a broad phenotypic range. A substantial fraction of individuals with albinism remain genetically unresolved, and it has been hypothesized that more genes are to be identified. By using homozygosity mapping of an inbred Faroese family......, we identified a 3.5 Mb homozygous region (10q22.2-q22.3) on chromosome 10. The region contains five protein-coding genes, and sequencing of one of these, C10orf11, revealed a nonsense mutation that segregated with the disease and showed a recessive inheritance pattern. Investigation of additional...... albinism-affected individuals from the Faroe Islands revealed that five out of eight unrelated affected persons had the nonsense mutation in C10orf11. Screening of a cohort of autosomal-recessive-albinism-affected individuals residing in Denmark showed a homozygous 1 bp duplication in C10orf11...

  13. Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism

    OpenAIRE

    Wang, Yun; Wang, Zhi; Chen, Mengping; Fan, Ning; Yang, Jie; Liu, Lu; Wang, Ying; Liu, Xuyang

    2015-01-01

    Background Oculocutaneous albinism (OCA) is an autosomal recessive disorder. The most common type OCA1 and OCA2 are caused by homozygous or compound heterozygous mutations in the tyrosinase gene (TYR) and OCA2 gene, respectively. Objective The purpose of this study was to evaluate the molecular basis of oculocutaneous albinism in four Chinese families. Patients and Methods Four non-consanguineous OCA families were included in the study. The TYR and OCA2 genes of all individuals were amplified...

  14. Two Cases of Burns in Children From French Guinea With Oculocutaneous Albinism

    OpenAIRE

    Valente, A; Caleffi, E.

    2010-01-01

    Oculocutaneous albinism is an autosomal recessive disorder. It is associated with a disorder in the synthesis of melanin pigment, clearly manifested by the absence of colour in the skin, iris, and hair. In addition to its importance for a person’s physical appearance, melanin plays a protective role with regard to solar radiation: its absence exposes the skin to a greater risk of related photogenic injury. The two young patients reported, suffering from oculocutaneous albinism, developed firs...

  15. Refinement of the localization of the X-linked ocular albinism gene

    Energy Technology Data Exchange (ETDEWEB)

    Bergen, A.A.B.; Zijp, P.; Schuurman, E.J.M.; Bleeker-Wagemakers, E.M.; Apkarian, P. (Netherlands Ophthalmic Research Inst., Amsterdam (Netherlands)); Ommen, G.J.B. van (Univ. of Leiden (Netherlands))

    1993-04-01

    Although physical and genetic mapping studies assigned the X-linked ocular albinism gene to Xp22.3, the exact gene order in this region is still unclear. The authors present additional genetic mapping data concerning X-linked ocular albinism that suggests the consensus order Xpter-STS-DXS237-KAL-(OA1, DXS143)- DXS85-DXS16-Xcen. 14 refs., 1 fig.

  16. Advances in albinism%白化病研究进展

    Institute of Scientific and Technical Information of China (English)

    彭琛; 邓伟平

    2014-01-01

    白化病是一种较为常见的以眼、皮肤、毛发黑素缺乏为主要临床表现的遗传病.临床上分为眼皮肤白化病和眼白化病两种类型.白化病的诊断主要根据其特征性临床表现,而确诊则靠致病基因突变检测等遗传学分析方法.不同类型的白化病由不同的致病基因所致,目前对白化病致病基因已有较为深入的研究,已知的致病基因有酪氨酸酶基因、P基因、酪氨酸酶相关蛋白酶1基因、MATP基因及GPR143基因.%Albinism is a relatively common hereditary disease clinically characterized by the absence of melanin in the eye,skin and hairs.There are two clinical types of albinism:oculocutaneous albinism and ocular albinism.The diagnosis of albinism is mainly based on characteristic clinical features,while the confirmation of diagnosis requires genetic analysis such as detection of pathogenic gene mutations.Different types of albinism are associated with different gene mutations.Recently,there has been a deep insight into the pathogenic gene mutations of albinism.For example,multiple genes have been identified to be responsible for the pathogenesis of albinism,such as the tyrosinase gene,P gene,tyrosinase-related proteinase-1 (TYRP-1)gene,MATP gene and GPR143 gene.

  17. Childhood autism in a 13 year old boy with oculocutaneous albinism: a case report

    Directory of Open Access Journals (Sweden)

    Bakare Muideen O

    2008-02-01

    Full Text Available Abstract Introduction Hypomelanotic skin disorders like tuberous sclerosis and hypomelanosis of Ito that present with multiple systemic manifestations have been reported in association with childhood autism. Oculocutaneous albinism is another hypomelanotic skin disorder that rarely presents with multiple systemic manifestations. It is infrequently reported in association with childhood autism when compared to tuberous sclerosis and hypomelanosis of Ito. Case presentation This article reports a case of co-morbid childhood autism and oculocutaneous albinism in a 13-year old boy from Nigeria in Sub-Saharan Africa. Conclusion The observation in this case report and in two previous reports which documented association between oculocutaneous albinism and childhood autism both in the affected individuals and families of individuals with childhood autism, raises the question of a possible genetic and clinical association between oculocutaneous albinism and childhood autism. More family and genetic studies into the relationship between oculocutaneous albinism and childhood autism is desirable. This may provide useful clues into the etiology, prevention and management of childhood autism as well as oculocutaneous albinism.

  18. Informed reasoning: repositioning of nitisinone to treat oculocutaneous albinism.

    Science.gov (United States)

    Manga, Prashiela; Orlow, Seth J

    2011-10-01

    Oculocutaneous albinism (OCA) is a group of genetic disorders characterized by hypopigmentation of the skin, hair, and eyes. Affected individuals experience reduced visual acuity and substantially increased skin cancer risk. There are four major types of OCA (OCA1-OCA4) that result from disruption in production of melanin from tyrosine. Current treatment options for individuals with OCA are limited to attempts to correct visual problems and counseling to promote use of sun protective measures. However, Onojafe et al., reporting in this issue of the JCI, provide hope for a new treatment approach for OCA, as they demonstrate that treating mice that model OCA-1b with nitisinone, which is FDA approved for treating hereditary tyrosinemia type 1, elevates plasma tyrosine levels, and increases eye and hair pigmentation. PMID:21968107

  19. Informed reasoning: repositioning of nitisinone to treat oculocutaneous albinism.

    Science.gov (United States)

    Manga, Prashiela; Orlow, Seth J

    2011-10-01

    Oculocutaneous albinism (OCA) is a group of genetic disorders characterized by hypopigmentation of the skin, hair, and eyes. Affected individuals experience reduced visual acuity and substantially increased skin cancer risk. There are four major types of OCA (OCA1-OCA4) that result from disruption in production of melanin from tyrosine. Current treatment options for individuals with OCA are limited to attempts to correct visual problems and counseling to promote use of sun protective measures. However, Onojafe et al., reporting in this issue of the JCI, provide hope for a new treatment approach for OCA, as they demonstrate that treating mice that model OCA-1b with nitisinone, which is FDA approved for treating hereditary tyrosinemia type 1, elevates plasma tyrosine levels, and increases eye and hair pigmentation.

  20. Presence of fusion in albinism after strabismus surgery augmented with botulinum toxin (type a) injection.

    Science.gov (United States)

    Tavakolizadeh, Sepideh; Farahi, Azadeh

    2013-08-01

    It is commonly accepted that albino patients with strabismus rarely achieve binocularity and depth perception after strabismus surgery. The presence of retino-geniculo-cortical misrouting, a hallmark of the visual system in albinism, does not necessarily cause total loss of binocular vision, however, not even in albino patients with strabismus. Recently some degrees of stereopsis were reported in albinism patients with minimal clinical nystagmus, if any, in the absence of strabismus. It is possible that patients with albinism and strabismus have binocular visual potential which appears after strabismus correction and provides appropriate postoperative alignment in the long term. Here we present two cases of clinically diagnosed oculocutaneous albinism, an 18-year-old girl and a 16-year-old boy, both with exotropia ≥40 prism diopter, who gained acceptable alignment and fusion after surgical correction of their strabismus as demonstrated on Bagolini testing. In cases of albinism accompanied by visual pathway abnormalities and strabismus, binocular visual potential is not impossible, and some levels can be expected. Thus, these patients, like other cases of strabismus, may benefit from treatment of strabismus at an earlier age to achieve appropriate alignment, cosmetic satisfaction, and a possibly increased chance of fusion.

  1. Molecular basis of albinism in India: evaluation of seven potential candidate genes and some new findings.

    Science.gov (United States)

    Mondal, M; Sengupta, M; Samanta, S; Sil, A; Ray, K

    2012-12-15

    Albinism represents a group of genetic disorders with a broad spectrum of hypopigmentary phenotypes dependent on the genetic background of the patients. Oculocutaneous albinism (OCA) patients have little or no pigment in their eyes, skin and hair, whereas ocular albinism (OA) primarily presents the ocular symptoms, and the skin and hair color may vary from near normal to very fair. Mutations in genes directly or indirectly regulating melanin production are responsible for different forms of albinism with overlapping clinical features. In this study, 27 albinistic individuals from 24 families were screened for causal variants by a PCR-sequencing based approach. TYR, OCA2, TYRP1, SLC45A2, SLC24A5, TYRP2 and SILV were selected as candidate genes. We identified 5 TYR and 3 OCA2 mutations, majority in homozygous state, in 8 unrelated patients including a case of autosomal recessive ocular albinism (AROA). A homozygous 4-nucleotide novel insertion in SLC24A5 was detected in a person showing with extreme cutaneous hypopigmentation. A potential causal variant was identified in the TYRP2 gene in a single patient. Haplotype analyses in the patients carrying homozygous mutations in the classical OCA genes suggested founder effect. This is the first report of an Indian AROA patient harboring a mutation in OCA2. Our results also reveal for the first time that mutations in SLC24A5 could contribute to extreme hypopigmentation in humans.

  2. Mutations of the tyrosinase gene produce autosomal recessive ocular albinism

    Energy Technology Data Exchange (ETDEWEB)

    King, R.A.; Summers, C.G.; Oetting, W.S. [Univ. of Minnesota, Minneapolis, MN (United States)] [and others

    1994-09-01

    Albinism has historically been divided into ocular (OA) and oculocutaneous (OCA) types based on the presence or absence of clinically apparent skin and hair involvement in an individual with the ocular features of albinism. The major genes for OCA include the tyrosinase gene in OCA1 and the P gene in OCA2. X-linked and autosomal recessive OA have been described and the responsible genes have not been identified. We now present six Caucasian individuals who have the phenotype of autosomal recessive OA but who have OCA1 as shown by the presence of mutations of the tyrosinase. They had white or very light hair and white skin at birth, and cutaneous pigment developed in the first decade of life. At ages ranging from 1.5-23 years, hair color was dark blond to light brown. The skin had generalized pigment and well developed tan was present on the exposed arm and face skin of four. Iris pigment was present and iris translucency varied. Molecular analysis of the tyrosinase gene, using PCR amplification and direct di-deoxy sequencing showed the following mutations: E398Z/E398Q, P406S/g346a, R402E/T373K, ?/D383N, and H211N/T373K. The homozygous individual was not from a known consanguineous mating. T373K is the most common tyrosinase gene mutation in our laboratory. Three of these mutations are associated with a total loss of tyrosinase activity (g346a splice-site, T373K, and D383N), while four are associated with residual enzyme activity (H211N, R402E, E398Q, and P406S). These studies show that mutations of the tyrosinase gene can produce the phenotype of autosomal recessive OA in an individual who has normal amounts of cutaneous pigment and the ability to tan after birth. This extends the phenotypic range of OCA1 to normal cutaneous pigment after early childhood, and suggest that mutations of the tyrosinase gene account for a significant number of individuals with autosomal recessive OA.

  3. Partial Oculocutaneous Albinism: Two Siblings with Features of both Hermansky Pudlak and Waardenburg's Syndrome.

    Science.gov (United States)

    Ishaq, Mazhar; Niazi, Muhammad Khizar; Khan, Muhammad Saim; Nadeem, Yasser

    2015-04-01

    Albinism is an inherited abnormality of melanin synthesis with incidence of one per 20,000 births. Its clinical manifestations are related to the reduction or absence of pigmentation in the visual system and/or the skin and teguments. The clinical spectrum of Oculocutaneous Albinism (OCA) has four types ranging from OCA 1 - 4, of which OCA 1, A-1 is the most severe form. Partial cutaneous albinism which is a subtype of OCA is associated with systemic immunodeficiency disorders like Chediak Higashi (CHS), Griscelli (GS) and Hermansky-Pudlak (HPS) syndromes. A7 years boy was labeled initially as a case of Hermansky Pudlak syndrome at the age of 01 year. He as well as his 4 years old younger brother when examined in detail along with audiological investigations were diagnosed as a rare presentation of both Hermansky Pudlak and Waardenburg's syndrome.

  4. Loss of binocular vision as direct cause for misrouting of temporal retinal fibers in albinism.

    Science.gov (United States)

    Banihani, Saleh M

    2015-10-01

    In humans, the nasal retina projects to the contralateral hemisphere, whereas the temporal retina projects ipsilaterally. The nasotemporal line that divides the retina into crossed and uncrossed parts coincides with the vertical meridian through the fovea. This normal projection of the retina is severely altered in albinism, in which the nasotemporal line shifted into the temporal retina with temporal retinal fibers cross the midline at the optic chiasm. This study proposes the loss of binocular vision as direct cause for misrouting of temporal retinal fibers and shifting of the nasotemporal line temporally in albinism. It is supported by many observations that clearly indicate that loss of binocular vision causes uncrossed retinal fibers to cross the midline. This hypothesis may alert scientists and clinicians to find ways to prevent or minimize the loss of binocular vision that may occur in some diseases such as albinism and early squint. Hopefully, this will minimize the misrouting of temporal fibers and improve vision in such diseases.

  5. Measuring Connectivity in the Primary Visual Pathway in Human Albinism Using Diffusion Tensor Imaging and Tractography.

    Science.gov (United States)

    Grigorian, Anahit; McKetton, Larissa; Schneider, Keith A

    2016-01-01

    In albinism, the number of ipsilaterally projecting retinal ganglion cells (RGCs) is significantly reduced. The retina and optic chiasm have been proposed as candidate sites for misrouting. Since a correlation between the number of lateral geniculate nucleus (LGN) relay neurons and LGN size has been shown, and based on previously reported reductions in LGN volumes in human albinism, we suggest that fiber projections from LGN to the primary visual cortex (V1) are also reduced. Studying structural differences in the visual system of albinism can improve the understanding of the mechanism of misrouting and subsequent clinical applications. Diffusion data and tractography are useful for mapping the OR (optic radiation). This manuscript describes two algorithms for OR reconstruction in order to compare brain connectivity in albinism and controls.An MRI scanner with a 32-channel head coil was used to acquire structural scans. A T1-weighted 3D-MPRAGE sequence with 1 mm(3) isotropic voxel size was used to generate high-resolution images for V1 segmentation. Multiple proton density (PD) weighted images were acquired coronally for right and left LGN localization. Diffusion tensor imaging (DTI) scans were acquired with 64 diffusion directions. Both deterministic and probabilistic tracking methods were run and compared, with LGN as the seed mask and V1 as the target mask. Though DTI provides relatively poor spatial resolution, and accurate delineation of OR may be challenging due to its low fiber density, tractography has been shown to be advantageous both in research and clinically. Tract based spatial statistics (TBSS) revealed areas of significantly reduced white matter integrity within the OR in patients with albinism compared to controls. Pairwise comparisons revealed a significant reduction in LGN to V1 connectivity in albinism compared to controls. Comparing both tracking algorithms revealed common findings, strengthening the reliability of the technique. PMID:27585189

  6. Measuring Connectivity in the Primary Visual Pathway in Human Albinism Using Diffusion Tensor Imaging and Tractography.

    Science.gov (United States)

    Grigorian, Anahit; McKetton, Larissa; Schneider, Keith A

    2016-01-01

    In albinism, the number of ipsilaterally projecting retinal ganglion cells (RGCs) is significantly reduced. The retina and optic chiasm have been proposed as candidate sites for misrouting. Since a correlation between the number of lateral geniculate nucleus (LGN) relay neurons and LGN size has been shown, and based on previously reported reductions in LGN volumes in human albinism, we suggest that fiber projections from LGN to the primary visual cortex (V1) are also reduced. Studying structural differences in the visual system of albinism can improve the understanding of the mechanism of misrouting and subsequent clinical applications. Diffusion data and tractography are useful for mapping the OR (optic radiation). This manuscript describes two algorithms for OR reconstruction in order to compare brain connectivity in albinism and controls.An MRI scanner with a 32-channel head coil was used to acquire structural scans. A T1-weighted 3D-MPRAGE sequence with 1 mm(3) isotropic voxel size was used to generate high-resolution images for V1 segmentation. Multiple proton density (PD) weighted images were acquired coronally for right and left LGN localization. Diffusion tensor imaging (DTI) scans were acquired with 64 diffusion directions. Both deterministic and probabilistic tracking methods were run and compared, with LGN as the seed mask and V1 as the target mask. Though DTI provides relatively poor spatial resolution, and accurate delineation of OR may be challenging due to its low fiber density, tractography has been shown to be advantageous both in research and clinically. Tract based spatial statistics (TBSS) revealed areas of significantly reduced white matter integrity within the OR in patients with albinism compared to controls. Pairwise comparisons revealed a significant reduction in LGN to V1 connectivity in albinism compared to controls. Comparing both tracking algorithms revealed common findings, strengthening the reliability of the technique.

  7. Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism

    DEFF Research Database (Denmark)

    Grønskov, Karen; Ek, Jakob; Sand, Annie;

    2009-01-01

    PURPOSE: The study was initiated to investigate the mutation spectrum of four OCA genes and to calculate the birth prevalence in patients with autosomal recessive albinism. METHODS: Mutation analysis using dHPLC or direct DNA sequencing of TYR, OCA2, TYRP1, and MATP was performed in 62 patients...... recessive ocular albinism (AROA) based on clinical findings was 55 to 45. CONCLUSIONS: TYR is the major OCA gene in Denmark, but several patients do not have mutations in the investigated genes. A relatively large fraction of patients were observed with AROA, and of those 52% had no mutations compared...

  8. An unusual combination of Unilateral Orbital Plexiform Neurofibroma in a patient with oculocutaneous albinism

    Directory of Open Access Journals (Sweden)

    J Saravanan

    2014-01-01

    Full Text Available A 70-year-old female patient presented with proptosis of right eye for the past 15 days and defective vision in both eyes since birth. She was found to have eccentric painful proptosis of right eye along with features of oculocutaneous albinism. Eccentric proptosis was due to an orbital mass which proved to be a plexiform neurofibroma by histopathological examination. The case is presented for its rarity, as an isolated orbital plexiform neurofibroma without the systemic features of neurofibromatosis is rare and its coincidental presentation with oculocutaneous albinism is yet rare and has not been reported so far.

  9. An unusual combination of unilateral orbital plexiform neurofibroma in a patient with oculocutaneous albinism.

    Science.gov (United States)

    Saravanan, J; Rajendraprasad, A; Priyadharshni, S

    2014-06-01

    A 70-year-old female patient presented with proptosis of right eye for the past 15 days and defective vision in both eyes since birth. She was found to have eccentric painful proptosis of right eye along with features of oculocutaneous albinism. Eccentric proptosis was due to an orbital mass which proved to be a plexiform neurofibroma by histopathological examination. The case is presented for its rarity, as an isolated orbital plexiform neurofibroma without the systemic features of neurofibromatosis is rare and its coincidental presentation with oculocutaneous albinism is yet rare and has not been reported so far.

  10. X-linked albinism-deafness syndrome and Waardenburg syndrome type II: A hypothesis

    Energy Technology Data Exchange (ETDEWEB)

    Zlotogora, J. [Hadassah Univ. Hospital, Jerusalem (Israel)

    1995-11-20

    Margolis reported on a large pedigree with a {open_quotes}new{close_quotes} X-linked syndrome of profound deafness and albinism (MIM 300700, albinism-deafness syndrome). The affected males presented with profound deafness and severe pigmentary abnormalities of the skin. At birth the skin appeared as almost albinotic except for areas of light pigmentation over the gluteal and scrotal areas, and thereafter pigmentation gradually increased over the body. Skin changes ultimately included areas of hypopigmentation and spots of hyperpigmentation. Some of the affected males also had blue irides, heterochromia, or segmental color iris changes. In carrier females, variable hearing impairment was documented without any pigmentary changes. 9 refs., 1 fig.

  11. Genetic analyses of Chinese patients with digenic oculocutaneous albinism

    Institute of Scientific and Technical Information of China (English)

    WEI Ai-hua; YANG Xiu-min; LIAN Shi; LI Wei

    2013-01-01

    Background Oculócutaneous albinism (OCA) is a heterogeneous and autosomal recessive disorder in all populations worldwide.The mutational spectra of OCA are population-specific.Some OCA patients carry mutations from different OCA genes.In this study,we investigated the frequency of digenic mutations in Chinese OCA patients.Methods Genomic DNAs were extracted from the blood samples of 184 clinically diagnosed OCA patients and 120 unaffected subjects.The amplified DNA segments of the exons and exon-intron boundaries were screened for mutations of TYR,OCA2,TYRP1,SLC45A2,and HPS1 by direct sequencing.To exclude the previously unidentified alleles from polymorphisms,samples from 120 unaffected controls were sequenced for the same regions of variations.Results In all 184 patients,134 had two pathologic mutations on one locus.Eleven cases had no apparent pathologic mutations in any of the genes studied.Among the remaining 39 patients who had only one pathologic mutation,five patients (2.7% in total) were found to carry the mutational alleles on a second locus in TYR,OCA2 or SLC45A2.Of the five digenic OCA patients,four patients were clinically diagnosed as OCA2 and one patient as OCA1.A previous unidentified allele p.G188D in SLC45A2 was identified,which was not present in the 120 unaffected controls.Conclusions The identification of the digenic OCA patients suggests the synergistic roles among TYR,OCA2 and SLC45A2 during melanin biosynthesis,which may cause OCA under digenic mutations.This information will be useful for gene diagnosis and genetic counseling of OCA in China.

  12. Brown′s syndrome with ocular albinism: Case report of a rare presentation and literature review

    Directory of Open Access Journals (Sweden)

    Soumya Nambiar

    2015-01-01

    Full Text Available We report a rare case of Brown′s syndrome associated with ocular albinism in a 10-year-old boy. This report highlights the importance of further analysis of cases of Brown′s syndrome and throws some light on the etiology and association of this rare condition.

  13. Chiasmal coefficient of flash and pattern visual evoked potentials for detection of chiasmal misrouting in albinism

    NARCIS (Netherlands)

    Pott, JWR; Jansonius, NM; Kooijman, AC

    2003-01-01

    The diagnosis of albinism can be confirmed by electrophysiological examination, when chiasmal misrouting can be demonstrated. The present study describes a quantitative analysis method for this purpose. A chiasmal coefficient (CC) was calculated by correlating the differential potential over left an

  14. Monocular and binocular development in children with albinism, infantile nystagmus syndrome and normal vision

    NARCIS (Netherlands)

    Huurneman, B.; Boonstra, F.N.

    2013-01-01

    Background/aims: To compare interocular acuity differences, crowding ratios, and binocular summation ratios in 4- to 8-year-old children with albinism (nn=n16), children with infantile nystagmus syndrome (nn=n10), and children with normal vision (nn=n72). Methods: Interocular acuity differences and

  15. Albinism in the american mink (Neovison vison) is associated with a tyrosinase nonsense mutation

    DEFF Research Database (Denmark)

    Anistoroaei, Razvan Marian; Fredholm, Merete; Christensen, Knud;

    2008-01-01

    Albino phenotypes are documented in various species including the American mink. In other species the albino phenotypes are associated with tyrosinase (TYR) gene mutations; therefore TYR was considered the candidate gene for albinism in mink. Four microsatellite markers were chosen in the prodicted...

  16. Monocular and binocular development in children with albinism, infantile nystagmus syndrome, and normal vision

    NARCIS (Netherlands)

    Huurneman, B.; Boonstra, F.N.

    2013-01-01

    Abstract Background/aims: To compare interocular acuity differences, crowding ratios, and binocular summation ratios in 4- to 8-year-old children with albinism (n = 16), children with infantile nystagmus syndrome (n = 10), and children with normal vision (n = 72). Methods: Interocular acuity differe

  17. Foveal hemorrhage in an eye with foveal hypoplasia associated with albinism

    Directory of Open Access Journals (Sweden)

    Masuda N

    2014-09-01

    Full Text Available Naonori Masuda, Taiji Hasegawa, Mariko Yamashita, Nahoko Ogata Department of Ophthalmology, Nara Medical University, Nara, Japan Abstract: Oculocutaneous albinism is a group of congenital disorders caused by alterations of melanin biosynthesis. We report our findings in a patient with oculocutaneous albinism who presented with foveal hypoplasia and a foveal hemorrhage. A 48-year-old man noted a dark spot in the middle of the visual field of his right eye. He had depigmented skin, white hair, white eyebrows, and white cilia. He also had horizontal nystagmus and depigmented irides. His best-corrected visual acuity was 2/100 with -14.0 diopters in the right eye and 3/100 with -5.0 diopters in the left eye. Ophthalmoscopy showed diffuse depigmentation in both eyes and a foveal hemorrhage in the right eye. Optical coherence tomography showed the absence of a foveal pit in both eyes and a subretinal hyperreflective lesion corresponding to the foveal hemorrhage in the right eye. Fluorescein angiography showed that the retinal and choroidal vessels were relatively hypofluorescent because of the lack of a blocking effect of the pigments in the retinal pigment epithelium. Fluorescein angiography and indocyanine green angiography did not show any evidence of choroidal neovascularization in either eye. The foveal hemorrhage in the right eye spontaneously regressed and finally resolved at 3 months after onset. At the final examination, the patient reported that his vision had recovered. A foveal hemorrhage is a rare condition in an eye with foveal hypoplasia associated with albinism. The hemorrhage may be related to high myopia and also to the hypoplasia of the fovea associated with albinism. Keywords: albinism, foveal hemorrhage, foveal hypoplasia, simple hemorrhage

  18. Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism.

    Science.gov (United States)

    Grønskov, Karen; Dooley, Christopher M; Østergaard, Elsebet; Kelsh, Robert N; Hansen, Lars; Levesque, Mitchell P; Vilhelmsen, Kaj; Møllgård, Kjeld; Stemple, Derek L; Rosenberg, Thomas

    2013-03-01

    Autosomal-recessive albinism is a hypopigmentation disorder with a broad phenotypic range. A substantial fraction of individuals with albinism remain genetically unresolved, and it has been hypothesized that more genes are to be identified. By using homozygosity mapping of an inbred Faroese family, we identified a 3.5 Mb homozygous region (10q22.2-q22.3) on chromosome 10. The region contains five protein-coding genes, and sequencing of one of these, C10orf11, revealed a nonsense mutation that segregated with the disease and showed a recessive inheritance pattern. Investigation of additional albinism-affected individuals from the Faroe Islands revealed that five out of eight unrelated affected persons had the nonsense mutation in C10orf11. Screening of a cohort of autosomal-recessive-albinism-affected individuals residing in Denmark showed a homozygous 1 bp duplication in C10orf11 in an individual originating from Lithuania. Immunohistochemistry showed localization of C10orf11 in melanoblasts and melanocytes in human fetal tissue, but no localization was seen in retinal pigment epithelial cells. Knockdown of the zebrafish (Danio rerio) homolog with the use of morpholinos resulted in substantially decreased pigmentation and a reduction of the apparent number of pigmented melanocytes. The morphant phenotype was rescued by wild-type C10orf11, but not by mutant C10orf11. In conclusion, we have identified a melanocyte-differentiation gene, C10orf11, which when mutated causes autosomal-recessive albinism in humans.

  19. Ocular Albinism Type 1 Regulates Melanogenesis in Mouse Melanocytes

    Directory of Open Access Journals (Sweden)

    Tianzhi Chen

    2016-09-01

    Full Text Available To investigate whether ocular albinism type 1 (OA1 is differentially expressed in the skin of mice with different coat colors and to determine its correlation with coat color establishment in mouse, the expression patterns and tissue distribution characterization of OA1 in the skin of mice with different coat colors were qualitatively and quantitatively analyzed by real-time quantitative PCR (qRT-PCR, immunofluorescence staining and Western blot. The qRT-PCR analysis revealed that OA1 mRNA was expressed in all mice skin samples tested, with the highest expression level in brown skin, a moderate expression level in black skin and the lowest expression level in gray skin. Positive OA1 protein bands were also detected in all skin samples by Western blot analysis. The relative expression levels of OA1 protein in both black and brown skin were significantly higher than that in gray skin, but there was no significant difference between black and brown mice. Immunofluorescence assays revealed that OA1 was mainly expressed in the hair follicle matrix, the inner and outer root sheath in the skin tissues with different coat colors. To get further insight into the important role of OA1 in the melanocytes’ pigmentation, we transfected the OA1 into mouse melanocytes and then detected the relative expression levels of pigmentation-related gene. Simultaneously, we tested the melanin content of melanocytes. As a result, the overexpression of OA1 significantly increased the expression levels of microphthalmia-associated transcription factor (MITF, tyrosinase (TYR, tyrosinase-related protein 1 (TRP1 and premelanosome protein (PMEL. However, the tyrosinase-related protein 2 (TRP2 level was attenuated. By contrast, the level of glycoprotein non-metastatic melanoma protein b (GPNMB was unaffected by OA1 overexpression. Furthermore, we observed a significant increase in melanin content in mouse melanocyte transfected OA1. Therefore, we propose that OA1 may

  20. A Potential Benefit of Albinism in Astyanax Cavefish: Downregulation of the oca2 Gene Increases Tyrosine and Catecholamine Levels as an Alternative to Melanin Synthesis

    OpenAIRE

    Helena Bilandžija; Li Ma; Amy Parkhurst; Jeffery, William R

    2013-01-01

    Albinism, the loss of melanin pigmentation, has evolved in a diverse variety of cave animals but the responsible evolutionary mechanisms are unknown. In Astyanax mexicanus, which has a pigmented surface dwelling form (surface fish) and several albino cave-dwelling forms (cavefish), albinism is caused by loss of function mutations in the oca2 gene, which operates during the first step of the melanin synthesis pathway. In addition to albinism, cavefish have evolved differences in behavior, incl...

  1. X-linked ocular albinism and sensorineural deafness: Linkage to Xp22. 3

    Energy Technology Data Exchange (ETDEWEB)

    Winship, I.M.; Babaya, M.; Ramesar, R.S. (Univ. of Cape Town Medical School (South Africa))

    1993-11-01

    X-linked ocular albinism with late-onset sensorineural deafness (OASD) is an autonomous disorder that poses significant clinical problems, causing affected individuals to be blind and deaf by early middle age. Classical X-linked ocular albinism (without deafness; OA1) has recently been linked to markers in the Xp22.2-Xp22.3 region of the human genome. In the present report, a large South African family with OASD was investigated at the molecular level and tight linkage was found to the DXS452 locus at Xp22.3 using 25 informative meioses, with a maximum lod score of 7.1 at a recombination fraction of 0.00. These findings suggest that OA1 and OASD are allelic variants or that they may be due to contiguous gene defects. 12 refs., 1 fig.

  2. Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.

    Science.gov (United States)

    Poulter, James A; Al-Araimi, Musallam; Conte, Ivan; van Genderen, Maria M; Sheridan, Eamonn; Carr, Ian M; Parry, David A; Shires, Mike; Carrella, Sabrina; Bradbury, John; Khan, Kamron; Lakeman, Phillis; Sergouniotis, Panagiotis I; Webster, Andrew R; Moore, Anthony T; Pal, Bishwanath; Mohamed, Moin D; Venkataramana, Anandula; Ramprasad, Vedam; Shetty, Rohit; Saktivel, Murugan; Kumaramanickavel, Govindasamy; Tan, Alex; Mackey, David A; Hewitt, Alex W; Banfi, Sandro; Ali, Manir; Inglehearn, Chris F; Toomes, Carmel

    2013-12-01

    Foveal hypoplasia and optic nerve misrouting are developmental defects of the visual pathway and only co-occur in connection with albinism; to date, they have only been associated with defects in the melanin-biosynthesis pathway. Here, we report that these defects can occur independently of albinism in people with recessive mutations in the putative glutamine transporter gene SLC38A8. Nine different mutations were identified in seven Asian and European families. Using morpholino-mediated ablation of Slc38a8 in medaka fish, we confirmed that pigmentation is unaffected by loss of SLC38A8. Furthermore, by undertaking an association study with SNPs at the SLC38A8 locus, we showed that common variants within this gene modestly affect foveal thickness in the general population. This study reveals a melanin-independent component underpinning the development of the visual pathway that requires a functional role for SLC38A8.

  3. Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel

    Energy Technology Data Exchange (ETDEWEB)

    Gershoni-Baruch, R. (Technion-Israel Institute of Technology, Haifa (Israel)); Rosenmann, A. (Hadassah Medical Center, Jerusalem (Israel)); Droetto, S.; Holmes, S.; Tripathi, R.K.; Spritz, R.A. (Univ. of Wisconsin, Madison, WI (United States))

    1994-04-01

    The authors have analyzed the tyrosinase (TYR) gene in 38 unrelated patients with oculocutaneous albinism (OCA), derived from several different ethnic groups of the diverse population of Israel. They detected TYR gene mutations in 23 of the 34 patients with apparent type I (i.e., tyrosinase-deficient) OCA and in none of the patients with other clinical forms of albinism. Among Moroccan Jews with type IA (i.e., tyrosinase-negative) OCA, they detected a highly predominant mutant allele containing a missense substitution, Gly47Asp (G47D). This mutation occurs on the same haplotype as in patients from the Canary Islands and Puerto Rico, suggesting that the G47D mutation in these ethnically distinct populations may stem from a common origin. 28 refs., 1 fig., 2 tabs.

  4. Oculocutaneous albinism: identifying and overcoming barriers to vision care in a Nigerian population.

    Science.gov (United States)

    Udeh, N N; Eze, B I; Onwubiko, S N; Arinze, O C; Onwasigwe, E N; Umeh, R E

    2014-06-01

    To assess eye care service utilization, and identify access barriers in a south-eastern Nigerian albino population. The study was a population-based, cross-sectional survey conducted in Enugu state between August, 2011 and January, 2012. Using the data base of the state's Albino Foundation and tailored awareness creation, persons living with albinism were identified and recruited at two study centres. Data on participants' socio-demographics, perception of vision, visual needs, previous eye examination and or low vision assessment, use of glasses or low vision devices were collected. Reasons for non-utilisation of available vision care services were also obtained. Descriptive and comparative statistics were performed. A p albinism. The identified barriers to vision care access are amenable to awareness creation and logistic change in the provision of appropriate vision care services.

  5. The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11. 2-q12

    Energy Technology Data Exchange (ETDEWEB)

    Ramsay, M.; Colman, M.A.; Stevens, G.; Zwane, E.; Kromberg, J.; Jenkins, T. (South African Institute for Medical Research, Johannesburg (South Africa)); Garral, M.

    1992-10-01

    Tyrosinase-positive oculocutaneous albinism (ty-pos OCA), an autosomal recessive disorder of the melanin biosynthetic pathway, is the most common type of albinism occurring worldwide. In southern African Bantu-speaking negroids it has an overall prevalence of about 1/3,900. Since the basic biochemical defect is unknown, a linkage study with candidate loci, candidate chromosomal regions, and random loci was undertaken. The ty-pos OCA locus was found to be linked to two arbitrary loci, D15S10 and D15S13, in the Prader-Willi/Angelman chromosomal region on chromosome 15q11.2-q12. The pink-eyed dilute locus, p, on mouse chromosome 7, maps close to a region of homology on human chromosome 15q, and we postulate that the ty-pos OCA and p loci are homologous. 43 refs., 2 figs., 1 tab.

  6. 29-year-old man presenting with progressive dyspnea, oculocutaneous albinism, and epistaxis.

    Science.gov (United States)

    Asefi, Golriz; Lahiji, Arta; Kamangar, Nader

    2015-06-01

    A 29-year-old man with a history of oculocutaneous albinism presented to the ED complaining of progressive dyspnea on exertion. One month prior to admission, the patient had begun to experience worsening dyspnea provoked by routine household activities. Additionally, he had developed a nonproductive cough, exacerbated by cold weather. He denied associated chest pain, hemoptysis, fever, chills, or night sweats. He denied any new exposures or sick contacts in the recent past. A review of systems was significant for a history of epistaxis and frequent bruising. Born in Honduras, he had immigrated to the United States approximately 10 years prior to his presentation to our facility. Furthermore, there was no family history of albinism, bleeding disorders, or pulmonary disease.

  7. Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism

    OpenAIRE

    Ko, Jung Min; YANG, JUNG-AH; Jeong, Seon-Yong; Kim, Hyon-Ju

    2012-01-01

    Oculocutaneous albinism (OCA) is a group of inherited disorders characterized by defective melanin biosynthesis. OCA1, the most common and severe form, is caused by mutations in the tyrosinase (TYR) gene. OCA4, caused by mutations in the SLC45A2 gene, has frequently been reported in the Japanese population. To determine the mutational spectrum in Korean OCA patients, 12 patients were recruited. The samples were first screened for TYR mutations, and negative samples were screened for SLC45A2 m...

  8. MC1R Mutations Modify the Classic Phenotype of Oculocutaneous Albinism Type 2 (OCA2)

    OpenAIRE

    Richard A. King; Willaert, Rebecca K.; Schmidt, Ramona M.; Pietsch, Jacy; Savage, Sarah; Brott, Marcia J.; Fryer, James P.; Summers, C Gail; William S Oetting

    2003-01-01

    The heterogeneous group of disorders known as oculocutaneous albinism (OCA) shares cutaneous and ocular hypopigmentation associated with common developmental abnormalities of the eye. Mutations of at least 11 loci produce this phenotype. The majority of affected individuals develop some cutaneous melanin; this is predominantly seen as yellow/blond hair, whereas fewer have brown hair. The OCA phenotype is dependent on the constitutional pigmentation background of the family, with more OCA pigm...

  9. Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism

    OpenAIRE

    Onojafe, Ighovie F.; Adams, David R; Simeonov, Dimitre R.; Zhang, Jun; Chan, Chi-Chao; Bernardini, Isa M.; Sergeev, Yuri V.; Dolinska, Monika B.; Alur, Ramakrishna P.; Brilliant, Murray H.; William A Gahl; Brooks, Brian P.

    2011-01-01

    Mutation of the tyrosinase gene (TYR) causes oculocutaneous albinism, type 1 (OCA1), a condition characterized by reduced skin and eye melanin pigmentation and by vision loss. The retinal pigment epithelium influences postnatal visual development. Therefore, increasing ocular pigmentation in patients with OCA1 might enhance visual function. There are 2 forms of OCA1, OCA-1A and OCA-1B. Individuals with the former lack functional tyrosinase and therefore lack melanin, while individuals with th...

  10. Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism.

    Science.gov (United States)

    Dotta, Laura; Parolini, Silvia; Prandini, Alberto; Tabellini, Giovanna; Antolini, Maddalena; Kingsmore, Stephen F; Badolato, Raffaele

    2013-01-01

    Hypopigmentation disorders that are associated with immunodeficiency feature both partial albinism of hair, skin and eyes together with leukocyte defects. These disorders include Chediak Higashi (CHS), Griscelli (GS), Hermansky-Pudlak (HPS) and MAPBP-interacting protein deficiency syndromes. These are heterogeneous autosomal recessive conditions in which the causal genes encode proteins with specific roles in the biogenesis, function and trafficking of secretory lysosomes. In certain specialized cells, these organelles serve as a storage compartment. Impaired secretion of specific effector proteins from that intracellular compartment affects biological activities. In particular, these intracellular granules are essential constituents of melanocytes, platelets, granulocytes, cytotoxic T lymphocytes (CTLs) and natural killer (NK) cells. Thus, abnormalities affect pigmentation, primary hemostasis, blood cell counts and lymphocyte cytotoxic activity against microbial pathogens. Among eight genetically distinct types of HPS, only type 2 is characterized by immunodeficiency. Recently, a new subtype, HPS9, was defined in patients presenting with immunodeficiency and oculocutaneous albinism, associated with mutations in the pallidin-encoding gene, PLDN.Hypopigmentation together with recurrent childhood bacterial or viral infections suggests syndromic albinism. T and NK cell cytotoxicity are generally impaired in patients with these disorders. Specific clinical and biochemical phenotypes can allow differential diagnoses among these disorders before molecular testing. Ocular symptoms, including nystagmus, that are usually evident at birth, are common in patients with HPS2 or CHS. Albinism with short stature is unique to MAPBP-interacting protein (MAPBPIP) deficiency, while hemophagocytic lymphohistiocytosis (HLH) mainly suggests a diagnosis of CHS or GS type 2 (GS2). Neurological disease is a long-term complication of CHS, but is uncommon in other syndromic albinism. Chronic

  11. Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2).

    OpenAIRE

    Spritz, R A; Fukai, K; Holmes, S A; Luande, J

    1995-01-01

    Type II oculocutaneous albinism (OCA2) is an autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in the skin, hair, and eyes. OCA2, which results from mutations of the P gene, is the most frequent type of albinism in African and African-American patients. OCA2 is especially frequent in Tanzania, where it occurs with an incidence of approximately 1/1,400. We have identified abnormalities of the P gene in each of 13 unrelated patients with OCA2 from Tanzania. On...

  12. DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics

    OpenAIRE

    Simeonov, Dimitre R.; Wang, Xinjing; Wang, Chen; Sergeev, Yuri; Dolinska, Monika; Bower, Matthew; Fischer, Roxanne; Winer, David; Dubrovsky, Genia; BALOG, JOAN Z.; Huizing, Marjan; Hart, Rachel; Zein, Wadih M.; William A Gahl; Brooks, Brian P.

    2013-01-01

    Oculocutaneous albinism (OCA) is a rare genetic disorder of melanin synthesis that results in hypopigmented hair, skin, and eyes. There are four types of OCA, caused by mutations in TYR (OCA-1), OCA2 (OCA-2), TYRP1 (OCA-3), or SLC45A2 (OCA-4). Here we report 22 novel mutations; 14 from a cohort of 61 patients seen as part of the NIH OCA Natural History Study and 8 from a prior study at the University of Minnesota. We also include a comprehensive list of almost 600 previously reported OCA muta...

  13. Lack of adequate sun protection for children with oculocutaneous albinism in South Africa

    Directory of Open Access Journals (Sweden)

    Taylor Julie S

    2008-06-01

    Full Text Available Abstract Background Childhood is a high risk time for ultraviolet induced skin damage as this age group has more time and opportunity to be outdoors in the sun. Children in Africa with the inherited condition oculocutaneous albinism (OCA are especially vulnerable due to their lack of protective melanin. They are highly susceptible to developing skin lesions that have both cosmetic and health complications, with a high risk of developing skin cancers. The study aimed to explore the adequacy of sun protection strategies of children with albinism in order to inform future provision. Methods Community based participatory research methods were employed to investigate sun protection strategies in 90 pupils with OCA (40 female and 50 male boarding at a special school educating pupils with visual impairment in a rural area of northern South Africa. Hats worn and sunscreen preparations used were examined during semi-structured face to face interviews conducted in small peer groups. The resident nurse interpreted if necessary and provided additional information on monitoring and treatment of skin lesions. Results Participants with albinism in this study were exposed to high levels of ultraviolet radiation throughout the year and showed skin damage despite wearing protective head gear. All except one pupil possessed at least one hat, with a mean brim width of 5.4 cm. Gender differences in sun avoidance behaviour were documented, with females seeking shade during recreational periods and males playing soccer outside. Although 38% of pupils were using a sunscreen with a sun protection factor (SPF rating, only 12% had government sponsored tubes of SPF15 cream. Government sponsored sunscreen preparations were only provided if actively sought, involving time consuming trips to regional hospitals, with inadequate availability and insufficient supply. Conclusion Children with albinism living away from home in rural areas appear to have inadequate sun protection

  14. Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism.

    Directory of Open Access Journals (Sweden)

    Yun Wang

    Full Text Available Oculocutaneous albinism (OCA is an autosomal recessive disorder. The most common type OCA1 and OCA2 are caused by homozygous or compound heterozygous mutations in the tyrosinase gene (TYR and OCA2 gene, respectively.The purpose of this study was to evaluate the molecular basis of oculocutaneous albinism in four Chinese families.Four non-consanguineous OCA families were included in the study. The TYR and OCA2 genes of all individuals were amplified by polymerase chain reaction (PCR, sequenced and compared with a reference database.Four patients with a diagnosis of oculocutaneous albinism, presented with milky skin, white or light brown hair and nystagmus. Genetic analyses demonstrated that patient A was compound heterozygous for c.1037-7T.A, c.1037-10_11delTT and c.1114delG mutations in the TYR gene; patient B was heterozygous for c.593C>T and c.1426A>G mutations in the OCA2 gene, patients C and D were compound heterozygous mutations in the TYR gene (c.549_550delGT and c.896G>A, c.832C>T and c.985T>C, respectively. The heterozygous c.549_550delGT and c.1114delG alleles in the TYR gene were two novel mutations. Interestingly, heterozygous members in these pedigrees who carried c.1114delG mutations in the TYR gene or c.1426A>G mutations in the OCA2 gene presented with blond or brown hair and pale skin, but no ocular disorders when they were born; the skin of these patients accumulated pigment over time and with sun exposure.This study expands the mutation spectrum of oculocutaneous albinism. It is the first time, to the best of our knowledge, to report that c.549_550delGT and c.1114delG mutations in the TYR gene were associated with OCA. The two mutations (c.1114delG in the TYR gene and c.1426A>G in the OCA2 gene may be responsible for partial clinical manifestations of OCA.

  15. A novel nonsense mutation of the GPR143 gene identified in a Chinese pedigree with ocular albinism.

    Directory of Open Access Journals (Sweden)

    Naihong Yan

    Full Text Available BACKGROUND: The purpose of this study was to elucidate the molecular basis of ocular albinism type I in a Chinese pedigree. METHODOLOGY/PRINCIPAL FINDINGS: Complete ophthalmologic examinations were performed on 4 patients, 7 carriers and 17 unaffected individuals in this five-generation family. All coding exons of four-point-one (4.1, ezrin, radixin, moesin (FERM domain-containing 7 (FRMD7 and G protein-coupled receptor 143 (GPR143 genes were amplified by polymerase chain reaction (PCR, sequenced and compared with a reference database. Ocular albinism and nystagmus were found in all patients of this family. Macular hypoplasia was present in the patients including the proband. A novel nonsense hemizygous mutation c.807T>A in the GPR143 gene was identified in four patients and the heterozygous mutation was found in seven asymptomatic individuals. This mutation is a substitution of tyrosine for adenine which leads to a premature stop codon at position 269 (p.Y269X of GPR143. CONCLUSIONS/SIGNIFICANCE: This is the first report that p.Y269X mutation of GPR143 gene is responsible for the pathogenesis of familial ocular albinism. These results expand the mutation spectrum of GPR143, and demonstrate the clinical characteristics of ocular albinism type I in Chinese population.

  16. Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism

    OpenAIRE

    Markus N. Preising; Forster, Hedwig; Gonser, Miriam; Lorenz, Birgit

    2011-01-01

    Background A broad spectrum of pigmentation of the skin and hair is found among patients diagnosed with ocular albinism (OA) and oculocutaneous albinism (OCA). Even though complexion is variable, three ocular features, i.e., hypopigmentation of the fundus, hypoplasia of the macula, and nystagmus, are classical pathological findings in these patients. We screened 172 index patients with a clinical diagnosis of OA or OCA based on the classical findings, to evaluate the frequency of sequence var...

  17. Dömda att leva i skuggan : En kvalitativ intervjustudie om hälsan hos personer med albinism i Rwanda, utifrån begreppen diskriminering, coping och socialt stöd

    OpenAIRE

    Niyonkuru, Elsie Diane

    2016-01-01

    Bakgrund: Oculocutaneous albinism (OCA) är en ärftlig sjukdom som fysiskt, psykiskt och socialt påverkar de drabbade individerna. Okunskap, fördomar och myter om albinism utgör de största orsakerna till den diskriminering som personer med albinism utsatts för särskilt i vissa länder i Afrika söder om Sahara. Syfte: Syftet är att beskriva hälsan hos personer med albinism i Rwanda, utifrån begreppen diskriminering, coping och socialt stöd. Metod: En kvalitativ metod med induktiv ansats ligger t...

  18. Oculocutaneous albinism in sub-Saharan Africa: adverse sun-associated health effects and photoprotection.

    Science.gov (United States)

    Wright, Caradee Y; Norval, Mary; Hertle, Richard W

    2015-01-01

    Oculocutaneous albinism (OCA) is a genetically inherited autosomal recessive condition. Individuals with OCA lack melanin and therefore are susceptible to the harmful effects of solar ultraviolet radiation, including extreme sun sensitivity, photophobia and skin cancer. OCA is a grave public health issue in sub-Saharan Africa with a prevalence as high as 1 in 1000 in some tribes. This article considers the characteristics and prevalence of OCA in sub-Saharan African countries. Sun-induced adverse health effects in the skin and eyes of OCA individuals are reviewed. Sun exposure behavior and the use of photoprotection for the skin and eyes are discussed to highlight the major challenges experienced by these at-risk individuals and how these might be best resolved.

  19. GNAI3: Another Candidate Gene to Screen in Persons with Ocular Albinism.

    Science.gov (United States)

    Young, Alejandra; Dandekar, Uma; Pan, Calvin; Sader, Avery; Zheng, Jie J; Lewis, Richard A; Farber, Debora B

    2016-01-01

    Ocular albinism type 1 (OA), caused by mutations in the OA1 gene, encodes a G-protein coupled receptor, OA1, localized in melanosomal membranes of the retinal pigment epithelium (RPE). This disorder is characterized by both RPE macro-melanosomes and abnormal decussation of ganglion cell axons at the brain's optic chiasm. We demonstrated previously that Oa1 specifically activates Gαi3, which also signals in the Oa1 transduction pathway that regulates melanosomal biogenesis. In this study, we screened the human Gαi3 gene, GNAI3, in DNA samples from 26 patients who had all clinical characteristics of OA but in whom a specific mutation in the OA1 gene had not been found, and in 6 normal control individuals. Using the Agilent HaloPlex Target Enrichment System and next-generation sequencing (NGS) on the Illumina MiSeq platform, we identified 518 variants after rigorous filtering. Many of these variants were corroborated by Sanger sequencing. Overall, 98.8% coverage of the GNAI3 gene was obtained by the HaloPlex amplicons. Of all variants, 6 non-synonymous and 3 synonymous were in exons, 41 in a non-coding exon embedded in the 3' untranslated region (UTR), 6 in the 5' UTR, and 462 in introns. These variants included novel SNVs, insertions, deletions, and a frameshift mutation. All were found in at least one patient but none in control samples. Using computational methods, we modeled the GNAI3 protein and its non-synonymous exonic mutations and determined that several of these may be the cause of disease in the patients studied. Thus, we have identified GNAI3 as a second gene possibly responsible for X-linked ocular albinism. PMID:27607449

  20. GNAI3: Another Candidate Gene to Screen in Persons with Ocular Albinism

    Science.gov (United States)

    Young, Alejandra; Sader, Avery; Farber, Debora B.

    2016-01-01

    Ocular albinism type 1 (OA), caused by mutations in the OA1 gene, encodes a G-protein coupled receptor, OA1, localized in melanosomal membranes of the retinal pigment epithelium (RPE). This disorder is characterized by both RPE macro-melanosomes and abnormal decussation of ganglion cell axons at the brain’s optic chiasm. We demonstrated previously that Oa1 specifically activates Gαi3, which also signals in the Oa1 transduction pathway that regulates melanosomal biogenesis. In this study, we screened the human Gαi3 gene, GNAI3, in DNA samples from 26 patients who had all clinical characteristics of OA but in whom a specific mutation in the OA1 gene had not been found, and in 6 normal control individuals. Using the Agilent HaloPlex Target Enrichment System and next-generation sequencing (NGS) on the Illumina MiSeq platform, we identified 518 variants after rigorous filtering. Many of these variants were corroborated by Sanger sequencing. Overall, 98.8% coverage of the GNAI3 gene was obtained by the HaloPlex amplicons. Of all variants, 6 non-synonymous and 3 synonymous were in exons, 41 in a non-coding exon embedded in the 3’ untranslated region (UTR), 6 in the 5’ UTR, and 462 in introns. These variants included novel SNVs, insertions, deletions, and a frameshift mutation. All were found in at least one patient but none in control samples. Using computational methods, we modeled the GNAI3 protein and its non-synonymous exonic mutations and determined that several of these may be the cause of disease in the patients studied. Thus, we have identified GNAI3 as a second gene possibly responsible for X-linked ocular albinism. PMID:27607449

  1. A candidate gene for X-linked Ocular Albinism (OA1)

    Energy Technology Data Exchange (ETDEWEB)

    Bassi, M.T.; Schiaffino, V.; Rugarli, E. [Baylor College of Medicine, Houston, TX (United States)

    1994-09-01

    Ocular Albinism of the Nettleship-Fall type 1 (OA1) is the most common form of ocular albinism. It is transmitted as an X-linked recessive trait with affected males showing severe reduction of visual acuity, nystagmus, strabismus, photophobia. Ophthalmologic examination reveals foveal hypoplasia, hypopigmentation of the retina and iris translucency. Microscopic examination of melanocytes suggests that the underlying defect in OA1 is an abnormality in melanosome formation. Recently we assembled a 350 kb cosmid contig spanning the entire critical region on Xp22.3, which measures approximately 110 kb. A minimum set of cosmids was used to identify transcribed sequences using both cDNA selection and exon amplification. Two putative exons recovered by exon amplification strategy were found to be highly conserved throughout evolution and, therefore, they were used as probes for the screening of fetal and adult retina cDNA libraries. This led to the isolation of clones spanning a full-length cDNA which measures 7.6 kb. Sequence analysis revealed that the predicted protein product shows homology with syntrophines and a Xenopus laevis apical protein. The gene covers approximately 170 kb of DNA and spans the entire critical region for OA1, being deleted in two patients with contiguous gene deletion including OA1 and in one patient with isolated OA1. Therefore, this new gene represents a very strong candidate for involvement in OA1 (an alternative, but unlikely possibility to be considered is that the true OA1 gene lies within an intron of the former). Northern analysis revealed very high level of expression in retina and melanoma. Unlike most Xp22.3 genes, this gene is conserved in the mouse. We are currently performing SSCP analysis and direct sequencing of exons on DNAs from approximately 60 unrelated patients with OA1 for mutation detection.

  2. Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3".

    OpenAIRE

    Boissy, R. E.; Zhao, H.; Oetting, W S; Austin, L. M.; Wildenberg, S C; Boissy, Y. L.; Zhao, Y.; Sturm, R. A.; Hearing, V J; King, R A; Nordlund, J. J.

    1996-01-01

    Most types of human oculocutaneous albinism (OCA) result from mutations in the gene for tyrosinase (OCA1) or the P protein (OCA2), although other types of OCA have been described but have not been mapped to specific loci. Melanocytes were cultured from an African-American with OCA, who exhibited the phenotype of Brown OCA, and his normal fraternal twin. Melanocytes cultured from the patient with OCA and the normal twin appeared brown versus black, respectively. Melanocytes from both the patie...

  3. Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism.

    Science.gov (United States)

    Miyamichi, Daisuke; Asahina, Miki; Nakajima, Junya; Sato, Miho; Hosono, Katsuhiro; Nomura, Takahito; Negishi, Takashi; Miyake, Noriko; Hotta, Yoshihiro; Ogata, Tsutomu; Matsumoto, Naomichi

    2016-09-01

    Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism, platelet dysfunction and ceroid deposition. We report suspected ocular albinism in two Japanese sisters, caused by mutations in the HPS6 (Hermansky-Pudlak syndrome 6) gene. Trio-based whole-exome sequencing (WES) identified novel compound heterozygous mutations in HPS6 (c.1898delC: mother origin and c.2038C>T: father origin) in the two sisters. To date, 10 associated mutations have been detected in HPS6. Although we detected no general manifestations, including platelet dysfunction, in the sisters, even in long-term follow-up, we established a diagnosis of HPS type 6 based on the HPS6 mutations and absence of dense bodies in the platelets, indicating that WES can identify cases of HPS type 6. To the best of our knowledge, this is the first report of HPS6 mutations in Japanese patients.

  4. Frequent intragenic deletion of the P gene in Tanzanian patients with Type II oculocutaneous albinism (OCA2)

    Energy Technology Data Exchange (ETDEWEB)

    Spritz, R.; Fukai, K.; Holmes, S.A. [Univ. of Wisconsin, Madison, WI (United States)] [and others

    1995-06-01

    Type II oculocutaneous albinism (OCA2) is an autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in the skin, hair, and eyes. OCA2, which results from mutations of the P gene, is the most frequent type of albinism in African and African-American patients. OCA2 is especially frequent in Tanzania, where it occurs with an incidence of {approximately}1/1,400. We have identified abnormalities of the P gene in each of 13 unrelated patients with OCA2 from Tanzania. One of these, a deletion of exon 7, is strongly predominant, accounting for {approximately}77% of mutant alleles in this group of patients. 20 refs., 2 figs.

  5. Mutations in the Human Orthologue of the Mouse underwhite Gene (uw) Underlie a New Form of Oculocutaneous Albinism, OCA4

    OpenAIRE

    Newton, J. M.; Cohen-Barak, Orit; Hagiwara, Nobuko; Gardner, John M.; Davisson, Muriel T.; Richard A. King; Brilliant, Murray H.

    2001-01-01

    Oculocutaneous albinism (OCA) affects ∼1/20,000 people worldwide. All forms of OCA exhibit generalized hypopigmentation. Reduced pigmentation during eye development results in misrouting of the optic nerves, nystagmus, alternating strabismus, and reduced visual acuity. Loss of pigmentation in the skin leads to an increased risk for skin cancer. Two common forms and one infrequent form of OCA have been described. OCA1 (MIM 203100) is associated with mutations of the TYR gene encoding tyrosinas...

  6. Comprehensive Analysis of Oculocutaneous Albinism among Non-Hispanic Caucasians Shows that OCA1 Is the Most Prevalent OCA Type

    OpenAIRE

    Hutton, Saunie M.; Spritz, Richard A.

    2008-01-01

    Oculocutaneous albinism (OCA) is a genetically heterogeneous group of disorders characterized by absent or reduced pigmentation of the skin, hair, and eyes. In humans, four genes have been associated with “classical” OCA and another 12 genes with syndromic forms of OCA. To assess the prevalence of different forms of OCA and different gene mutations among non-Hispanic Caucasian patients, we performed DNA sequence analysis of the four genes associated with “classical” OCA (TYR, OCA2, TYRP1, SLC...

  7. Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA).

    OpenAIRE

    Tripathi, R. K.; Bundey, S; Musarella, M A; Droetto, S; Strunk, K M; Holmes, S A; Spritz, R A

    1993-01-01

    Oculocutaneous albinism (OCA) is a group of autosomal recessive disorders characterized by deficient synthesis of melanin pigment. Type I (tyrosinase-deficient) OCA results from mutations of the tyrosinase gene (TYR gene) encoding tyrosinase, the enzyme that catalyzes the first two steps of melanin biosynthesis. Mutations of the TYR gene have been identified in a large number of patients, most of Caucasian ethnic origin, with various forms of type I OCA. Here, we present an analysis of the TY...

  8. A Missense Mutation in SLC45A2 Is Associated with Albinism in Several Small Long Haired Dog Breeds.

    Science.gov (United States)

    Wijesena, Hiruni R; Schmutz, Sheila M

    2015-01-01

    Homozygosity for a large deletion in the solute carrier family 45, member 2 (SLC45A2) gene causes oculocutaneous albinism (OCA) in the Doberman Pinscher breed. An albino Lhasa Apso did not have this g.27141_31223del (CanFam2) deletion in her SLC45A2 sequence. Therefore, SLC45A2 was investigated in this female Lhasa Apso to search for other possible variants that caused her albinism. The albino Lhasa Apso was homozygous for a nonsynonymous substitution in the seventh exon, a c.1478G>A base change that resulted in a glycine to aspartic acid substitution (p.G493D). This mutation was not found in a wolf, a coyote, or any of the 15 other Lhasa Apso dogs or 32 other dogs of breeds related to the Lhasa Apso. However, an albino Pekingese, 2 albino Pomeranians, and an albino mixed breed dog that was small and long haired were also homozygous for the 493D allele. The colored puppies of the albino Lhasa Apso and the colored dam of the 2 albino Pomeranians were heterozygous for this allele. However, an albino Pug was homozygous for the 493G allele and therefore although we suggest the 493D allele causes albinism when homozygous in several small, long haired dog breeds, it does not explain all albinism in dogs. A variant effect prediction for the albino Lhasa Apso confirms that p.G493D is a deleterious substitution, and a topology prediction for SLC45A2 suggests that the 11th transmembrane domain where the 493rd amino acid was located, has an altered structure.

  9. Oculocutaneous albinism and consanguineous marriage among Spanish Gitanos or Calé--a study of 83 cases.

    Science.gov (United States)

    Gamella, Juan F; Carrasco-Muñoz, Elisa Martín; Núñez Negrillo, Ana María

    2013-09-01

    This paper studies 83 cases of oculocutaneous albinism (OCA) in family networks of Gitanos in southeastern Spain, and analyzes their sustained inbreeding patterns and complex genealogical relationships. It is based in the family and genealogy reconstitution of the Gitano population of 22 contiguous localities using ethnographic and historical demography methods. The study found a prevalence of OCA among Gitanos in the area of about 1: 1,200. Most of the cases belong to three extended kin networks in which consanguineous marriages have been common for generations. In these networks there are other cases of visual and auditive congenital anomalies, and other birth defects such as brachydactily, polydactily, neurological defects, Potter Sequence, etc. In 61 OCA cases it was possible to trace inbreeding links with a depth of three to nine generations. For these cases the estimated alpha (average of the inbreeding coefficient, F) is 0.0222. Relationships between the parents of people affected are of three types: close, as between first or second cousins; distant, as between third or fourth cousins, and non-existent, as in mixed marriages. In most cases, however, persons with albinism are linked by multiple consanguineous links. Albinism seems to be a visible example of a high prevalence of birth defects in this minority, associated with founder effects, sustained inbreeding and high fertility rates. These conditions derive from Gitano's marriage preferences and pronatalist strategies. In turn, these strategies have to be related to the exclusion, persecution and segregation that Spanish Gypsies have suffered for centuries.

  10. A novel splicing site mutation of the GPR143 gene in a Chinese X-linked ocular albinism pedigree.

    Science.gov (United States)

    Cai, C Y; Zhu, H; Shi, W; Su, L; Shi, O; Cai, C Q; Ling, C; Li, W D

    2013-01-01

    Ocular albinism is an X-linked inherited disease characterized by hypopigmentation of the iris and nystagmus. To identify a new disease-causing mutation of ocular albinism, we collected a Han Chinese pedigree with 7 male congenital nystagmus patients over 3 generations. Slit-lamp photography and optical coherence tomography were performed for the proband. Genomic DNA was extracted from a whole blood sample from the proband using the high-salt method. Polymerase chain reaction (PCR) sequencing was carried out for GPR143 and FRMD7 genes. The three-dimensional structures of the wild-type and mutant GPR143 proteins were determined using SWISS-MODEL. The transmission of the disease in the pedigree clearly followed an X-linked pattern. The proband had significant iris and fundus hypopigmentation. Optical coherence tomography showed severe foveal hypoplasias in both eyes of the proband. A novel splicing site (G/C) mutation was found on the boundary of the 6th intron and the 7th exon of the GPR143 gene, resulting in a 9-amino-acid deletion (codons 257-265) in the 6th transmembrane domain of the GPR143 protein. In conclusion, a novel splicing site mutation of the GPR143 gene was found in a Han Chinese congenital ocular albinism pedigree.

  11. 各型眼皮肤白化病遗传基因的相关研究%The research on genes of ocular albinism and clinical manifestations

    Institute of Scientific and Technical Information of China (English)

    张忠寿

    2011-01-01

    白化病是一种单基因隐性遗传性疾病.眼皮肤白化病可分为4型,临床表现主要是全身各部位色素缺乏,根据其色素缺乏部位及其他系统异常,可分为眼白化病、眼皮肤白化病及白化病相关综合征.白化病的发生与12种基因的突变有关.本文对其临床表现及其对视力、皮肤、心理各方面危害及各型眼皮肤白化病遗传基因的相关研究进展进行详细的综述.%Albinism is a single-gene recessive genetic disease.Ocular albinism can be divided into 4 types, clinical manifestations, mainly whole body pigment deficiency, according to their pigment lack of parts and other system abnormalities can be divided into the whites of the disease, ocular albinism, and albinism-related syndrome.Albinism occurs with 12 gene mutation.In this paper, the clinical manifestation of the vision, skin, and the various aspects of psychological type ocular albinisn progress in genetic research were reviewed.

  12. Perceived effects of coloured overlays on reading material in persons with albinism

    Directory of Open Access Journals (Sweden)

    N. T. Makgaba

    2008-01-01

    Full Text Available Persons with albinism often complain of glare when reading. They may therefore benefit from coloured filter overlays just as they benefit from tinted lenses. The purpose of this study was to assess the effectof coloured overlays on print perception in persons with oculocutaneous albinism (OCA.   Fifty subjects were included in this study, their ages ranged from 12 to 31 years with a mean of 16.12 years (SD = ± 4.56 years.  Following refraction and subsequent compensation for refractive errors, subjective perception of print was examined with the subject looking at the Wilkins® reading rate test chart with and without colored filter overlay/s.  The subjects were asked to respond to questions previously used in a questionnaire by Wilkins (2001. The percentage frequencies of positive (beneficial responses were used to decide whether or not a particular overlay would enhance reading performance.  McNemar’s test was used to establish significant differences between responses to questions without and with overlays. All single overlays gave greater percentages of positive responses (92.0-97.2% than without overlay (85.2%.  The single overlay that provided the highest positive responses was blue (97.2% and the least was purple (92.0%. All double overlays, except grey/grey (82.0% gave greater positive responses than without overlay (85.2%. Aqua/blue gave the greatest positive responses (possible benefits (97.2%, followed by rose/rose (96.8%.  Comparing the responses without overlay with single and double overlays, the difference in responses to the five questions was only significant (p < 0.05 with regard to brightness of the surface. The results suggest that overlays provided a more glare-free reading surface than without an overlay. It was, therefore concluded that the best advantage of the coloured overlays was in glare reduction.  Although this study showed that there were more subjects who preferred single blue and aqua/blue double

  13. Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism.

    Science.gov (United States)

    Onojafe, Ighovie F; Adams, David R; Simeonov, Dimitre R; Zhang, Jun; Chan, Chi-Chao; Bernardini, Isa M; Sergeev, Yuri V; Dolinska, Monika B; Alur, Ramakrishna P; Brilliant, Murray H; Gahl, William A; Brooks, Brian P

    2011-10-01

    Mutation of the tyrosinase gene (TYR) causes oculocutaneous albinism, type 1 (OCA1), a condition characterized by reduced skin and eye melanin pigmentation and by vision loss. The retinal pigment epithelium influences postnatal visual development. Therefore, increasing ocular pigmentation in patients with OCA1 might enhance visual function. There are 2 forms of OCA1, OCA-1A and OCA-1B. Individuals with the former lack functional tyrosinase and therefore lack melanin, while individuals with the latter produce some melanin. We hypothesized that increasing plasma tyrosine concentrations using nitisinone, an FDA-approved inhibitor of tyrosine degradation, could stabilize tyrosinase and improve pigmentation in individuals with OCA1. Here, we tested this hypothesis in mice homozygous for either the Tyrc-2J null allele or the Tyrc-h allele, which model OCA-1A and OCA-1B, respectively. Only nitisinone-treated Tyrc-h/c-h mice manifested increased pigmentation in their fur and irides and had more pigmented melanosomes. High levels of tyrosine improved the stability and enzymatic function of the Tyrc-h protein and also increased overall melanin levels in melanocytes from a human with OCA-1B. These results suggest that the use of nitisinone in OCA-1B patients could improve their pigmentation and potentially ameliorate vision loss. PMID:21968110

  14. A Case of a Newborn with Agenesis of the Corpus Callosum Complicated with Ocular Albinism

    Directory of Open Access Journals (Sweden)

    Michiko Miki

    2016-05-01

    Full Text Available Purpose: To report a case of ocular albinism found in a newborn infant in whom agenesis of the corpus callosum (ACC was indicated in utero. Case Report: This study involved a female newborn who was delivered after a gestational period of 41 weeks. The patient was referred to the Obstetrics Department at Takatsuki Hospital, Takatsuki City, Japan, after the indication of ACC by magnetic resonance imaging (MRI at a nearby clinic during the fetal period. At birth, the baby’s weight was 2,590 g, and ACC and ventricular enlargement were found by cranial sonography and cranial MRI. While initial ophthalmic findings noted partial loss of pigmentation of the iris and hypopigmentation of broad areas of the fundus in both eyes, nystagmus was not observed. The patient’s hair pigment was slightly diluted, and the color of her skin was slightly off-white. At 2 years after birth, obvious mental retardation was observed. With regard to other systemic findings, no apparent heart, kidney, or immune system abnormalities were found. Conclusion: Although the patient in question is presently growing without any major systemic problems, it will be necessary in the future to pay attention to any changes in systemic and ophthalmic findings.

  15. Two novel tyrosinase (TYR gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1.

    Directory of Open Access Journals (Sweden)

    Vadieh Ghodsinejad Kalahroudi

    Full Text Available Oculocutaneous albinism (OCA is a heterogeneous group of autosomal recessive disorders resulting from mutations of the tyrosinase (TYR gene and presents with either complete or partial absence of pigment in the skin, hair and eyes due to a defect in an enzyme involved in the production of melanin. In this study, mutations in the TYR gene of 30 unrelated Iranian OCA1 patients and 100 healthy individuals were examined using PCR-sequencing. Additionally, in order to predict the possible effects of new mutations on the structure and function of tyrosinase, these mutations were analyzed by SIFT, PolyPhen and I-Mutant 2 software. Here, two new pathogenic p.C89S and p.H180R mutations were detected in two OCA1 patients. Moreover, the R402Q and S192Y variants, which are common non-pathogenic polymorphisms, were detected in 17.5% and 35% of the patients, respectively. The outcome of this study has extended the genotypic spectrum of OCA1 patients, which paves the way for more efficient carrier detection and genetic counseling.

  16. Deep intronic GPR143 mutation in a Japanese family with ocular albinism.

    Science.gov (United States)

    Naruto, Takuya; Okamoto, Nobuhiko; Masuda, Kiyoshi; Endo, Takao; Hatsukawa, Yoshikazu; Kohmoto, Tomohiro; Imoto, Issei

    2015-06-10

    Deep intronic mutations are often ignored as possible causes of human disease. Using whole-exome sequencing, we analysed genomic DNAs of a Japanese family with two male siblings affected by ocular albinism and congenital nystagmus. Although mutations or copy number alterations of coding regions were not identified in candidate genes, the novel intronic mutation c.659-131 T > G within GPR143 intron 5 was identified as hemizygous in affected siblings and as heterozygous in the unaffected mother. This mutation was predicted to create a cryptic splice donor site within intron 5 and activate a cryptic acceptor site at 41nt upstream, causing the insertion into the coding sequence of an out-of-frame 41-bp pseudoexon with a premature stop codon in the aberrant transcript, which was confirmed by minigene experiments. This result expands the mutational spectrum of GPR143 and suggests the utility of next-generation sequencing integrated with in silico and experimental analyses for improving the molecular diagnosis of this disease.

  17. Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism.

    Science.gov (United States)

    Ko, Jung Min; Yang, Jung-Ah; Jeong, Seon-Yong; Kim, Hyon-Ju

    2012-04-01

    Oculocutaneous albinism (OCA) is a group of inherited disorders characterized by defective melanin biosynthesis. OCA1, the most common and severe form, is caused by mutations in the tyrosinase (TYR) gene. OCA4, caused by mutations in the SLC45A2 gene, has frequently been reported in the Japanese population. To determine the mutational spectrum in Korean OCA patients, 12 patients were recruited. The samples were first screened for TYR mutations, and negative samples were screened for SLC45A2 mutations. OCA1 was confirmed in 8 of 12 (66.7%) patients, and OCA4 was diagnosed in 1 (8.3%) patient. In the OCA1 patients, a total of 6 distinct TYR mutations were found in 15 of 16 (93.8%) alleles, all of which had been previously reported. Out of the 6 alleles, c.929insC was the most frequently detected (31.3%), and was mainly associated with OCA1A phenotypes. Other TYR mutations identified included c.1037-7T>A/c.1037-10delTT, p.D383N, p.R77Q and p.R299H. These largely overlapped with mutations found in Japanese and Chinese patients. The SLC45A2 gene analysis identified 1 novel mutation, p.D93N, in 1 patient. This study has provided information on the mutation spectrum in Korean OCA patients, and allows us to estimate the relative frequencies of OCA1 and OCA4 in Korea.

  18. Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1).

    Science.gov (United States)

    Ghodsinejad Kalahroudi, Vadieh; Kamalidehghan, Behnam; Arasteh Kani, Ahoura; Aryani, Omid; Tondar, Mahdi; Ahmadipour, Fatemeh; Chung, Lip Yong; Houshmand, Massoud

    2014-01-01

    Oculocutaneous albinism (OCA) is a heterogeneous group of autosomal recessive disorders resulting from mutations of the tyrosinase (TYR) gene and presents with either complete or partial absence of pigment in the skin, hair and eyes due to a defect in an enzyme involved in the production of melanin. In this study, mutations in the TYR gene of 30 unrelated Iranian OCA1 patients and 100 healthy individuals were examined using PCR-sequencing. Additionally, in order to predict the possible effects of new mutations on the structure and function of tyrosinase, these mutations were analyzed by SIFT, PolyPhen and I-Mutant 2 software. Here, two new pathogenic p.C89S and p.H180R mutations were detected in two OCA1 patients. Moreover, the R402Q and S192Y variants, which are common non-pathogenic polymorphisms, were detected in 17.5% and 35% of the patients, respectively. The outcome of this study has extended the genotypic spectrum of OCA1 patients, which paves the way for more efficient carrier detection and genetic counseling.

  19. Genetic mapping of X-linked ocular albinism: Linkage analysis in a large Newfoundland kindred

    Energy Technology Data Exchange (ETDEWEB)

    Charles, S.J.; Moore, A.T.; Barton, D.E.; Yates, J.R.W. (Addenbrooke' s Hospital, Cambridge (United Kingdom)); Green, J.S. (Memorial Univ. of Newfoundland, St. John' s (Canada))

    1993-04-01

    Genetic linkage studies in a large Newfoundland family affected by X-linked ocular albinism (OA1) showed linkage to markers from Xp22.3. One recombinant mapped the disease proximal to DXS143 (dic56) and two recombinants mapped the disease distal to DXS85 (782). Combining the data with that from 16 British families previously published confirmed close linkage between OA1 and DXS143 (dic56; Z[sub max] = 21.96 at [theta] = 0.01, confidence interval (CI) 0.0005--0.05) and linkage to DXS85 (782; Z[sub max] = 17.60 at [theta] = 0.07, CI = 0.03--0.13) and DXS237 (GMGX9; Z[sub max] = 15.20 at [theta] = 0.08, CI = 0.03--0.15). Multipoint analysis (LINKMAP) gave the most likely order as Xpter-XG-DXS237-DXS143-OA1-DXS85, with odds of 48:1 over the order Xpter-XG-DXS237-OA1-DXS143-DXS85, and odds exceeding 10[sup 10]:1 over other locations for the disease locus. 11 refs., 1 fig., 1 tab.

  20. Phenotypic variability in X-linked ocular albinism: Relationship to linkage genotypes

    Energy Technology Data Exchange (ETDEWEB)

    Schnur, R.E. [Children`s Hospital of Philadelphia, PA (United States)]|[Univ. of Pennsylvania School of Medicine, Philadelphia, PA (United States); Wick, P.A. [Children`s Hospital of Philadelphia, PA (United States); Bailey, C. [Univ. of Pennsylvania School of Medicine, Philadelphia, PA (United States); Rebbeck, T. [Fox Chase Cancer Center, Philadelphia, PA (United States); Weleber, R.G. [Oregon Health Sciences Univ., Portland, OR (United States); Wagstaff, J. [Boston Children`s Hospital, MA (United States); Grix, A.W. [Univ. of California, Davis, CA (United States); Pagon, R.A. [Children`s Hospital and Medical Center, Seattle, WA (United States); Hockey, A. [Princess Margaret Hospital, Perth (Australia); Edwards, M.J. [Newcastle Western Suburbs Hospital, Waratah (Australia)

    1994-09-01

    One hundred nineteen individuals from 11 families with X-linked ocular albinism (OA1) were studied with respect to both their clinical phenotypes and their linkage genotypes. In a four-generation Australian family, two affected males and an obligatory carrier lacked cutaneous melanin macroglobules (MMGs); ocular features were identical to those of Nettleship-Falls OA1. Four other families had more unusual phenotypic features in addition to OA1. All OA1 families were genotyped at DXS16, DXS85, DXS143, STS, and DXS452 and for a CA-repeat polymorphism at the Kallmann syndrome locus (KAL). Separate two-point linkage analyses were performed for the following: group A, six families with biopsy-proved MMGs in at least one affected male; group B, four families whose biopsy status was not known; and group C, OA-9 only (16 samples), the family without MMGs. At the set of loci closest to OA1, there is no clear evidence in our data set for locus heterogeneity between groups A and C or among the four other families with complex phenotypes. Combined multipoint analysis (LINKMAP) in the 11 families and analysis of individual recombination events confirms that the major locus for OA1 resides within the DXS85-DXS143 interval. The authors suggest that more detailed clinical evaluations of OA1 individuals and families should be performed for future correlation with specific mutations in candidate OA1 genes. 29 refs., 5 figs., 4 tabs.

  1. 白化病的遗传异质性%Genetic Heterogeneity in Albinism

    Institute of Scientific and Technical Information of China (English)

    刘玲; 李若馨; 屈艳霞; 李洪义

    2007-01-01

    白化病(albinism)是由黑色素(melanin)合成相关基因突变导致黑色素沉着减少或缺失引起的一类遗传性疾病的总称.根据临床表现涉及的组织、器官、系统的复杂程度,白化病分为非综合征白化病和综合征性白化病两大类,每一类包括若干病种,而有些病种又可根据基因座的不同区分为若干型,各型都存在一定程度的等位基因遗传异质性.本文主要概述国内外白化病的基因座遗传异质性和眼皮肤白化病的等位基因遗传异质性研究进展,为遗传咨询提供理论依据.

  2. A Case of a Newborn with Agenesis of the Corpus Callosum Complicated with Ocular Albinism

    Science.gov (United States)

    Miki, Michiko; Miyamoto, Makiko; Mitsutsuji, Tatsuma; Watanabe, Hiroko; Shimizu, Kazuhiro; Matsuo, Junko; Tonari, Masahiro; Kida, Teruyo; Sugasawa, Jun; Ikeda, Tsunehiko

    2016-01-01

    Purpose To report a case of ocular albinism found in a newborn infant in whom agenesis of the corpus callosum (ACC) was indicated in utero. Case Report This study involved a female newborn who was delivered after a gestational period of 41 weeks. The patient was referred to the Obstetrics Department at Takatsuki Hospital, Takatsuki City, Japan, after the indication of ACC by magnetic resonance imaging (MRI) at a nearby clinic during the fetal period. At birth, the baby's weight was 2,590 g, and ACC and ventricular enlargement were found by cranial sonography and cranial MRI. While initial ophthalmic findings noted partial loss of pigmentation of the iris and hypopigmentation of broad areas of the fundus in both eyes, nystagmus was not observed. The patient's hair pigment was slightly diluted, and the color of her skin was slightly off-white. At 2 years after birth, obvious mental retardation was observed. With regard to other systemic findings, no apparent heart, kidney, or immune system abnormalities were found. Conclusion Although the patient in question is presently growing without any major systemic problems, it will be necessary in the future to pay attention to any changes in systemic and ophthalmic findings. PMID:27462254

  3. 眼白化病1型的分子病理生理基础%Molecular pathophysiological basis of the ocular albinism type 1

    Institute of Scientific and Technical Information of China (English)

    吴维青; 李洪义; 郑辉

    2004-01-01

    Ocular albinism type 1 (OA1), the most form of the ocular albinism, is an X-linked disorder mainly characterized by a severe reduction of visual acuity, hypopigmentation of the retina, photophobia, strabismus and nystagmus. The OA1 gene is located on chromosome Xp22.32 and the coding sequence is divided into nine exons. The OA1 gene codes for a 404 amino acid protein thought to be a melanosomal transmembrane glycoprotein. The OA1 protein is similar to the G protein-coupled receptors, but it's exact function is not clear. There are many mutations and deletions of the OA1 gene have been found.

  4. Macular optical coherence tomography findings and GPR143 mutations in patients with ocular albinism.

    Science.gov (United States)

    Sepúlveda-Vázquez, H E; Villanueva-Mendoza, C; Zenteno, J C; Villegas-Ruiz, V; Pelcastre-Luna, E; García-Aguirre, G

    2014-10-01

    The aim of this study was to describe macular findings using spectral-domain optical coherence tomography (SD-OCT) in patients with ocular albinism (OA) and their carrier mothers, and to identify the frequency of GPR143 gene mutations in these patients. The study included five patients with a clinical diagnosis of OA. SD-OCT of the macular area was performed in both patients and their mothers. The anatomical characteristics of the macula and retinal pigment epithelium (RPE), patterns of autofluorescence and infrared imaging were analyzed. Polymerase chain reaction amplification of the complete coding sequence of GPR 143 was performed and subsequently analyzed by direct sequencing in patients and their possible carrier mothers. SD-OCT images revealed the presence of inner retinal layers in the fovea, an abnormal disposition of the Henle layer and a lack of thickening in the perifoveal area. We found increased thickness in the RPE to the outer segment and in the outer segment to the outer nuclear layer that is associated with increased visual acuity. Autofluorescence images revealed an absence of normal hipoautofluorescence in the fovea. No changes were observed in the images of their carrier mothers. Mutation screening and sequence analysis of the GPR 143 gene revealed a novel pathological mutation in two patients. Abnormalities in the macula were observed in all patients. SD-OCT is a useful tool for the assessment of patients with OA. No changes were observed in the SD-OCT of carrier mothers. Only two patients had the GPR143 gene mutation.

  5. Albinism-causing mutations in recombinant human tyrosinase alter intrinsic enzymatic activity.

    Directory of Open Access Journals (Sweden)

    Monika B Dolinska

    Full Text Available BACKGROUND: Tyrosinase (TYR catalyzes the rate-limiting, first step in melanin production and its gene (TYR is mutated in many cases of oculocutaneous albinism (OCA1, an autosomal recessive cause of childhood blindness. Patients with reduced TYR activity are classified as OCA1B; some OCA1B mutations are temperature-sensitive. Therapeutic research for OCA1 has been hampered, in part, by the absence of purified, active, recombinant wild-type and mutant human enzymes. METHODOLOGY/PRINCIPAL FINDINGS: The intra-melanosomal domain of human tyrosinase (residues 19-469 and two OCA1B related temperature-sensitive mutants, R422Q and R422W were expressed in insect cells and produced in T. ni larvae. The short trans-membrane fragment was deleted to avoid potential protein insolubility, while preserving all other functional features of the enzymes. Purified tyrosinase was obtained with a yield of >1 mg per 10 g of larval biomass. The protein was a monomeric glycoenzyme with maximum enzyme activity at 37°C and neutral pH. The two purified mutants when compared to the wild-type protein were less active and temperature sensitive. These differences are associated with conformational perturbations in secondary structure. CONCLUSIONS/SIGNIFICANCE: The intramelanosomal domains of recombinant wild-type and mutant human tyrosinases are soluble monomeric glycoproteins with activities which mirror their in vivo function. This advance allows for the structure - function analyses of different mutant TYR proteins and correlation with their corresponding human phenotypes; it also provides an important tool to discover drugs that may improve tyrosinase activity and treat OCA1.

  6. A partial gene deletion of SLC45A2 causes oculocutaneous albinism in Doberman pinscher dogs.

    Directory of Open Access Journals (Sweden)

    Paige A Winkler

    Full Text Available The first white Doberman pinscher (WDP dog was registered by the American Kennel Club in 1976. The novelty of the white coat color resulted in extensive line breeding of this dog and her offspring. The WDP phenotype closely resembles human oculocutaneous albinism (OCA and clinicians noticed a seemingly high prevalence of pigmented masses on these dogs. This study had three specific aims: (1 produce a detailed description of the ocular phenotype of WDPs, (2 objectively determine if an increased prevalence of ocular and cutaneous melanocytic tumors was present in WDPs, and (3 determine if a genetic mutation in any of the genes known to cause human OCA is causal for the WDP phenotype. WDPs have a consistent ocular phenotype of photophobia, hypopigmented adnexal structures, blue irides with a tan periphery and hypopigmented retinal pigment epithelium and choroid. WDPs have a higher prevalence of cutaneous melanocytic neoplasms compared with control standard color Doberman pinschers (SDPs; cutaneous tumors were noted in 12/20 WDP (5 years of age: 8/8 and 1/20 SDPs (p<0.00001. Using exclusion analysis, four OCA causative genes were investigated for their association with WDP phenotype; TYR, OCA2, TYRP1 and SLC45A2. SLC45A2 was found to be linked to the phenotype and gene sequencing revealed a 4,081 base pair deletion resulting in loss of the terminus of exon seven of SLC45A2 (chr4∶77,062,968-77,067,051. This mutation is highly likely to be the cause of the WDP phenotype and is supported by a lack of detectable SLC45A2 transcript levels by reverse transcriptase PCR. The WDP provides a valuable model for studying OCA4 visual disturbances and melanocytic neoplasms in a large animal model.

  7. Eight previously unidentified mutations found in the OA1 ocular albinism gene

    Directory of Open Access Journals (Sweden)

    Dufier Jean-Louis

    2006-04-01

    Full Text Available Abstract Background Ocular albinism type 1 (OA1 is an X-linked ocular disorder characterized by a severe reduction in visual acuity, nystagmus, hypopigmentation of the retinal pigmented epithelium, foveal hypoplasia, macromelanosomes in pigmented skin and eye cells, and misrouting of the optical tracts. This disease is primarily caused by mutations in the OA1 gene. Methods The ophthalmologic phenotype of the patients and their family members was characterized. We screened for mutations in the OA1 gene by direct sequencing of the nine PCR-amplified exons, and for genomic deletions by PCR-amplification of large DNA fragments. Results We sequenced the nine exons of the OA1 gene in 72 individuals and found ten different mutations in seven unrelated families and three sporadic cases. The ten mutations include an amino acid substitution and a premature stop codon previously reported by our team, and eight previously unidentified mutations: three amino acid substitutions, a duplication, a deletion, an insertion and two splice-site mutations. The use of a novel Taq polymerase enabled us to amplify large genomic fragments covering the OA1 gene. and to detect very likely six distinct large deletions. Furthermore, we were able to confirm that there was no deletion in twenty one patients where no mutation had been found. Conclusion The identified mutations affect highly conserved amino acids, cause frameshifts or alternative splicing, thus affecting folding of the OA1 G protein coupled receptor, interactions of OA1 with its G protein and/or binding with its ligand.

  8. A partial gene deletion of SLC45A2 causes oculocutaneous albinism in Doberman pinscher dogs.

    Science.gov (United States)

    Winkler, Paige A; Gornik, Kara R; Ramsey, David T; Dubielzig, Richard R; Venta, Patrick J; Petersen-Jones, Simon M; Bartoe, Joshua T

    2014-01-01

    The first white Doberman pinscher (WDP) dog was registered by the American Kennel Club in 1976. The novelty of the white coat color resulted in extensive line breeding of this dog and her offspring. The WDP phenotype closely resembles human oculocutaneous albinism (OCA) and clinicians noticed a seemingly high prevalence of pigmented masses on these dogs. This study had three specific aims: (1) produce a detailed description of the ocular phenotype of WDPs, (2) objectively determine if an increased prevalence of ocular and cutaneous melanocytic tumors was present in WDPs, and (3) determine if a genetic mutation in any of the genes known to cause human OCA is causal for the WDP phenotype. WDPs have a consistent ocular phenotype of photophobia, hypopigmented adnexal structures, blue irides with a tan periphery and hypopigmented retinal pigment epithelium and choroid. WDPs have a higher prevalence of cutaneous melanocytic neoplasms compared with control standard color Doberman pinschers (SDPs); cutaneous tumors were noted in 12/20 WDP (5 years of age: 8/8) and 1/20 SDPs (p<0.00001). Using exclusion analysis, four OCA causative genes were investigated for their association with WDP phenotype; TYR, OCA2, TYRP1 and SLC45A2. SLC45A2 was found to be linked to the phenotype and gene sequencing revealed a 4,081 base pair deletion resulting in loss of the terminus of exon seven of SLC45A2 (chr4∶77,062,968-77,067,051). This mutation is highly likely to be the cause of the WDP phenotype and is supported by a lack of detectable SLC45A2 transcript levels by reverse transcriptase PCR. The WDP provides a valuable model for studying OCA4 visual disturbances and melanocytic neoplasms in a large animal model.

  9. Skin flora: Differences between people affected by Albinism and those with normally pigmented skin in Northern Tanzania – cross sectional study

    Directory of Open Access Journals (Sweden)

    Kiprono Samson K

    2012-07-01

    Full Text Available Abstract Background Skin flora varies from one site of the body to another. Individual’s health, age and gender determine the type and the density of skin flora. Methods A 1 cm2 of the skin on the sternum was rubbed with sterile cotton swab socked in 0.9% normal saline and plated on blood agar. This was cultured at 35°C. The bacteria were identified by culturing on MacConkey agar, coagulase test, catalase test and gram staining. Swabs were obtained from 66 individuals affected by albinism and 31 individuals with normal skin pigmentation. Those with normal skin were either relatives or staying with the individuals affected by albinism who were recruited for the study. Results The mean age of the 97 recruited individuals was 30.6 (SD ± 14.9 years. The mean of the colony forming units was 1580.5 per cm2. Those affected by albinism had a significantly higher mean colony forming units (1680 CFU per cm2 as compared with 453.5 CFU per cm2 in those with normally pigmented skin (p = 0.023. The skin type and the severity of sun- damaged skin was significantly associated with a higher number of colony forming units (p = 0.038. Conclusion Individuals affected by albinism have a higher number of colony forming units which is associated with sun- damaged skin.

  10. Homozygosity mapping in albinism patients using a novel panel of 13 STR markers inside the nonsyndromic OCA genes: introducing 5 novel mutations.

    Science.gov (United States)

    Khordadpoor-Deilamani, Faravareh; Akbari, Mohammad Taghi; Karimipoor, Morteza; Javadi, Gholam Reza

    2016-05-01

    Albinism is a heterogeneous genetic disorder of melanin synthesis that results in hypopigmented hair, skin and eyes. It is associated with decreased visual acuity, nystagmus, strabismus and photophobia. Six genes are known to be involved in nonsyndromic oculocutaneous albinism (OCA). In this study, we aimed to find the disease causing mutations in albinism patients using homozygosity mapping. Twenty three unrelated patients with nonsyndromic OCA or autosomal recessive ocular albinism were recruited in this study. All of the patients' parents had consanguineous marriage and all were screened for TYR mutations previously. At first, we performed homozygosity mapping using fluorescently labeled primers to amplify a novel panel of 13 STR markers inside the OCA genes and then the screened loci in each family were studied using PCR and cycle sequencing methods. We found five mutations including three mutations in OCA2, one mutation in SLC45A2 and one mutation in C10ORF11 genes, all of which were novel. In cases where the disease causing mutations are identical by descent due to a common ancestor, these STR markers can enable us to screen for the responsible genes. PMID:26818737

  11. Homozygosity mapping in albinism patients using a novel panel of 13 STR markers inside the nonsyndromic OCA genes: introducing 5 novel mutations.

    Science.gov (United States)

    Khordadpoor-Deilamani, Faravareh; Akbari, Mohammad Taghi; Karimipoor, Morteza; Javadi, Gholam Reza

    2016-05-01

    Albinism is a heterogeneous genetic disorder of melanin synthesis that results in hypopigmented hair, skin and eyes. It is associated with decreased visual acuity, nystagmus, strabismus and photophobia. Six genes are known to be involved in nonsyndromic oculocutaneous albinism (OCA). In this study, we aimed to find the disease causing mutations in albinism patients using homozygosity mapping. Twenty three unrelated patients with nonsyndromic OCA or autosomal recessive ocular albinism were recruited in this study. All of the patients' parents had consanguineous marriage and all were screened for TYR mutations previously. At first, we performed homozygosity mapping using fluorescently labeled primers to amplify a novel panel of 13 STR markers inside the OCA genes and then the screened loci in each family were studied using PCR and cycle sequencing methods. We found five mutations including three mutations in OCA2, one mutation in SLC45A2 and one mutation in C10ORF11 genes, all of which were novel. In cases where the disease causing mutations are identical by descent due to a common ancestor, these STR markers can enable us to screen for the responsible genes.

  12. Femtosecond laser-assisted keratoplasty combined with cataract extraction in a patient with keratoconus and oculocutaneous albinism

    Science.gov (United States)

    Pásztor, Dorottya; Kolozsvári, Bence Lajos; Losonczy, Gergely; Fodor, Mariann

    2016-01-01

    In this study, we present a case of a 58-year-old male patient with oculocutaneous albinism, keratoconus, total cataract, and glaucoma originating from father-daughter incest. He underwent femtosecond laser-assisted keratoplasty with “open-sky” cataract extraction and posterior chamber intraocular lens implantation. One week after surgery his uncorrected visual acuity improved from hand motion to 20/200. Six months later corneal K values were 49.1 D in the flat and 50.0 D in the steep meridian. The graft had a central corneal thickness of 488 µm and was well fitted. The patient's quality of life improved substantially due to the surgery. To the best of our knowledge, this is the first report on the association of albinism with advanced keratoconus, total cataract, and glaucoma. Moreover, no previous report on femtosecond laser-assisted keratoplasty using VisuMax femtosecond laser system with “open-sky” cataract extraction is available in the literature. The VisuMax femtosecond laser-assisted keratoplasty ensures fast patient rehabilitation in such challenging cases. PMID:27146942

  13. Femtosecond laser-assisted keratoplasty combined with cataract extraction in a patient with keratoconus and oculocutaneous albinism

    Directory of Open Access Journals (Sweden)

    Dorottya Pásztor

    2016-01-01

    Full Text Available In this study, we present a case of a 58-year-old male patient with oculocutaneous albinism, keratoconus, total cataract, and glaucoma originating from father-daughter incest. He underwent femtosecond laser-assisted keratoplasty with “open-sky” cataract extraction and posterior chamber intraocular lens implantation. One week after surgery his uncorrected visual acuity improved from hand motion to 20/200. Six months later corneal K values were 49.1 D in the flat and 50.0 D in the steep meridian. The graft had a central corneal thickness of 488 µm and was well fitted. The patient's quality of life improved substantially due to the surgery. To the best of our knowledge, this is the first report on the association of albinism with advanced keratoconus, total cataract, and glaucoma. Moreover, no previous report on femtosecond laser-assisted keratoplasty using VisuMax femtosecond laser system with “open-sky” cataract extraction is available in the literature. The VisuMax femtosecond laser-assisted keratoplasty ensures fast patient rehabilitation in such challenging cases.

  14. Identification of a mutation in the tyrosinase related protein 1 (TRP1) gene associated with brown oculocutaneous albinism (OCA3)

    Energy Technology Data Exchange (ETDEWEB)

    Wildenberg, S.C.; Oetting, W.S.; Fryer, J.P. [Univ. of Minnesota, Minneapolis, MN (United States)] [and others

    1994-09-01

    The genes responsible for the two most common types of human oculocutaneous albinism (OCA) have been identified. Mutations of the tyrosinase gene (chromosome 11q14-21) produce OCA1, and mutations of the P gene (chromosome 15q11.2-13) produce OCA2. Another type of OCA known as brown OCA or OCA3 is found commonly in the African and African-American population. OCA3 is characterized by light brown skin and hair with the ocular features of albinism and represents the third most frequent type of OCA. We previously identified dizygotic African-American twin boys who were discordant for OCA3. Melanocytes from the affected twin produced brown melanin and contained no detectable TRP1 protein. We have now characterized the TRP1 gene from the affected twin. The human TRP1 gene, homologous to the murine brown locus, contains 8 exons and maps to chromosome 9p23. Using PCR amplification of each exon coupled with SSCP analysis and direct DNA sequencing, we found the affected twin to homozygous for a single bp deletion in exon 6. The deletion removes a G in codon 368 leading to a premature stop at codon 384. We also identified a Tsp509 polymorphism in the 3{prime} UTR. We conclude that mutations of the TRP1 gene are responsible for brown OCA or OCA3, making this the third major OCA gene identified in humans.

  15. Um albino parcial de veado campeiro (Ozotoceros bezoarticus, Linnaeus no Parque Nacional das Emas, Goiás Partial albinism in the pampas deer and a critical analysis about albino Mammals

    Directory of Open Access Journals (Sweden)

    Flávio H.G. Rodrigues

    1999-01-01

    Full Text Available A case of partial albinism in the pampas deer, recorded at the Emas National Park, Goiás, Brazil is described. The coat color and behaviour of the albino are compared with normal pampas deer.

  16. Prenatal genotyping of four common oculocutaneous albinism genes in 51 Chinese families.

    Science.gov (United States)

    Wei, Ai-Hua; Zang, Dong-Jie; Zhang, Zhao; Yang, Xiu-Min; Li, Wei

    2015-06-20

    Oculocutaneous albinism (OCA) is an autosomal recessive disorder characterized by hypopigmentation in eyes, hair and skin, accompanied with vision loss. Currently, six genes have been identified as causative genes for non-syndromic OCA (OCA-1∼4, 6, 7), and ten genes for syndromic OCA (HPS-1-9, CHS-1). Genetic counseling of 51 Chinese OCA families (39 OCA-1 with mutations in the TYR gene, 6 OCA-2 with mutations in the OCA2 gene, 4 OCA-4 with mutations in the SLC45A2 gene, 1 HPS-1 (Hermansky-Pudlak syndrome-1) with mutation in the HPS1 gene, and 1 mixed OCA-1 and OCA-4) led us to perform the prenatal genetic testing of OCA using amniotic fluid cells through the implementation of our optimized strategy. In our cohort, eleven previously unidentified alleles (PUAs) (5 in TYR, 2 in OCA2, and 4 in SLC45A2) were found. Three missense PUAs (p.C112R, p.H363R and p.G379V of TYR) and one in-frame deletional PUA (p.S222del of SLC24A5) led to fetuses with OCA when co-inherited with other disease causative alleles. Three PUAs (p.P152H and p.W272X of TYR, p.A486T of SLC24A5) identified in the OCA probands did not co-transmit with known pathological alleles and thus gave rise to unaffected fetuses. Four PUAs (p.Q83X and p.A658T of TYR, p.G161R and p.G366R of SLC24A5) did not transmit to the unaffected fetuses. In addition, the in vitro transfection assays showed that the p.S192Y variant of TYR produced less pigment compared to the wild-type allele. A fetus with a digenic carrier of OCA-1 and OCA-4 was unaffected. In combination with functional assays, the family inheritance pattern is useful for the evaluation of pathogenicity of PUAs and genetic counseling of OCA.

  17. A novel form of {open_quotes}Tyrosinase-positive{close_quotes} oculocutaneous albinism

    Energy Technology Data Exchange (ETDEWEB)

    Fukai, K.; Lee, S.T.; Bundey, S.; Spritz, R.A. [Univ. of Wisconsin, Madison, WI (United States)]|[Birmingham Maternity Hospital, Birmingham (United Kingdom)

    1994-09-01

    Tyrosinase-positive oculocutaneous albinism (ty-pos OCA) is an autosomal recessive disorder in which the biosynthesis of melanin pigment is greatly reduced in the skin, hair, and eyes. We have shown that typical ty-pos OCA (OCA2) results from mutations of the P gene in chromosome segment 15q11-q13. We have also shown that some patients diagnosed with ty-pos OCA actually have mild forms of type I OCA (OCAI), resulting from mutations at the tyrosinase (TYR) gene at 11q14-q21. However, in about one-third of patients with ty-pos OCA we have failed to identify abnormalities of either the P or TYR genes, suggesting the possible existence of a third ty-pos OCA locus. To test this hypothesis, we investigated a large, complex, inbred Pakistani kindred. Affected individuals exhibit slight skin pigmentation with no tanning, hair that is silver at birth and darkens somewhat over time, brown irides, and reduced visual acuity with nystagmus. SSCP/heteroduplex screening and complete DNA sequence analysis of TYR gene in the proband identified no abnormalities, and analysis of a CA repeat in the TYR gene promoter showed no linkage of ty-pos OCA to this marker in this kindred. SSCP/ heteroduplex screening of the P gene also detected no abnormalities, and the (inbred) proband was heterozygous for numerous intragenic polymorphisms. These data thus exclude TYP and P. We next carried out genetic linkage analyses and homozygisty mapping using various SSLP repeats at the locations of the human homologues of the mouse brown (TYRP, 9p23), slaty (13q32), and silver (12pter-q21) genes, all of which are associated with generalized hypopigmentation in mutant animals. However, we found no evidence of linkage of any of these markers. We are currently carrying out similar analyses using markers near the putative locations of the human homologues of several other mouse hypopigmentation genes in an effort to map this novel human ty-pos OCA locus.

  18. A Novel Deletion Mutation of the TYR Gene in a Patient With Oculocutaneous Albinism Type 1A

    Directory of Open Access Journals (Sweden)

    Talebi

    2016-01-01

    Full Text Available Introduction Oculocutaneous albinism (OCA is a genetically heterogeneous autosomal recessive genetic disorder that is characterized by reduced or completely absent pigmentation in the hair, skin, and eyes. Case Presentation In the present study, in order to verify OCA type 1A in a patient with clinical symptoms, and to study the variations of the TYR gene for the first time in southwest Iran, this gene was entirely sequenced. Conclusions A novel homozygous mutation, the deletion of exons 1 - 5 on the TYR gene, was found on the molecular genetic testing of this patient. Exon 1 - 5 deletion on TYR causes a lack of the tyrosinase enzyme and disturbs the melanin biosynthesis process.

  19. Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II.

    Science.gov (United States)

    Rimoldi, Valeria; Straniero, Letizia; Asselta, Rosanna; Mauri, Lucia; Manfredini, Emanuela; Penco, Silvana; Gesu, Giovanni P; Del Longo, Alessandra; Piozzi, Elena; Soldà, Giulia; Primignani, Paola

    2014-03-01

    Oculocutaneous albinism (OCA) is characterized by hypopigmentation of the skin, hair and eye, and by ophthalmologic abnormalities caused by a deficiency in melanin biosynthesis. OCA type II (OCA2) is one of the four commonly-recognized forms of albinism, and is determined by mutation in the OCA2 gene. In the present study, we investigated the molecular basis of OCA2 in two siblings and one unrelated patient. The mutational screening of the OCA2 gene identified two hitherto-unknown putative splicing mutations. The first one (c.1503+5G>A), identified in an Italian proband and her affected sibling, lies in the consensus sequence of the donor splice site of OCA2 intron 14 (IVS14+5G>A), in compound heterozygosity with a frameshift mutation, c.1450_1451insCTGCCCTGACA, which is predicted to determine the premature termination of the polypeptide chain (p.I484Tfs*19). In-silico prediction of the effect of the IVS14+5G>A mutation on splicing showed a score reduction for the mutant splice site and indicated the possible activation of a newly-created deep-intronic acceptor splice site. The second mutation is a synonymous transition (c.2139G>A, p.K713K) involving the last nucleotide of exon 20. This mutation was found in a young African albino patient in compound heterozygosity with a previously-reported OCA2 missense mutation (p.T404M). In-silico analysis predicted that the mutant c.2139G>A allele would result in the abolition of the splice donor site. The effects on splicing of these two novel mutations were investigated using an in-vitro hybrid-minigene approach that led to the demonstration of the causal role of the two mutations and to the identification of aberrant transcript variants.

  20. Congenital nasal pyriform aperture stenosis and ocular albinism co-occurring in a sibship with a maternally-inherited 97 kb Xp22.2 microdeletion.

    Science.gov (United States)

    Somsen, David; Davis-Keppen, Laura; Crotwell, Patricia; Flanagan, Jason; Munson, Patrick; Stein, Quinn

    2014-05-01

    Congenital Nasal Pyriform Aperture Stenosis (CNPAS) is a rare congenital malformation caused by overgrowth of the maxillary bone. We report on two patients, brothers born 3 and 1½ years apart, both presented at birth with radiographically diagnosed CNPAS. Both siblings also were born with ocular albinism, which is known to have X-linked inheritance. Subsequent genetic testing demonstrated a 97 kb deletion in the p arm of the X chromosome in both siblings and their mother. This deletion encompasses a gene known to cause ocular albinism (GPR143), as well as partial deletion of two other genes, TBL1X and SHROOM2. This is the first reported case of CNPAS in siblings, both males, sharing a maternally inherited Xp22.2 deletion.

  1. Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population

    Directory of Open Access Journals (Sweden)

    Jaworek Thomas J

    2012-06-01

    Full Text Available Abstract Background Oculocutaneous albinism (OCA is caused by a group of genetically heterogeneous inherited defects that result in the loss of pigmentation in the eyes, skin and hair. Mutations in the TYR, OCA2, TYRP1 and SLC45A2 genes have been shown to cause isolated OCA. No comprehensive analysis has been conducted to study the spectrum of OCA alleles prevailing in Pakistani albino populations. Methods We enrolled 40 large Pakistani families and screened them for OCA genes and a candidate gene, SLC24A5. Protein function effects were evaluated using in silico prediction algorithms and ex vivo studies in human melanocytes. The effects of splice-site mutations were determined using an exon-trapping assay. Results Screening of the TYR gene revealed four known (p.Arg299His, p.Pro406Leu, p.Gly419Arg, p.Arg278* and three novel mutations (p.Pro21Leu, p.Cys35Arg, p.Tyr411His in ten families. Ex vivo studies revealed the retention of an EGFP-tagged mutant (p.Pro21Leu, p.Cys35Arg or p.Tyr411His tyrosinase in the endoplasmic reticulum (ER at 37°C, but a significant fraction of p.Cys35Arg and p.Tyr411His left the ER in cells grown at a permissive temperature (31°C. Three novel (p.Asp486Tyr, p.Leu527Arg, c.1045-15 T > G and two known mutations (p.Pro743Leu, p.Ala787Thr of OCA2 were found in fourteen families. Exon-trapping assays with a construct containing a novel c.1045-15 T > G mutation revealed an error in splicing. No mutation in TYRP1, SLC45A2, and SLC24A5 was found in the remaining 16 families. Clinical evaluation of the families segregating either TYR or OCA2 mutations showed nystagmus, photophobia, and loss of pigmentation in the skin or hair follicles. Most of the affected individuals had grayish-blue colored eyes. Conclusions Our results show that ten and fourteen families harbored mutations in the TYR and OCA2 genes, respectively. Our findings, along with the results of previous studies, indicate that the p.Cys35Arg, p.Arg278

  2. The tyrosinase-positive oculocutaneous albinism gene shows locus homogeneity on chromosome 15q11-q13 and evidence of multiple mutations in southern African negroids.

    OpenAIRE

    Kedda, M.A.; Stevens, G; Manga, P; Viljoen, C.; Jenkins, T; Ramsay, M.

    1994-01-01

    Tyrosinase-positive oculocutaneous albinism (ty-pos OCA) is an autosomal recessive disorder of the melanin pigmentary system. South African ty-pos OCA individuals occur with two distinct phenotypes, with or without darkly pigmented patches (ephelides, or dendritic freckles) on exposed areas of the skin. These phenotypes are concordant within families, suggesting that there may be more than one mutation at the ty-pos OCA locus. Linkage studies carried out in 41 families have shown linkage betw...

  3. A potential benefit of albinism in Astyanax cavefish: downregulation of the oca2 gene increases tyrosine and catecholamine levels as an alternative to melanin synthesis.

    Science.gov (United States)

    Bilandžija, Helena; Ma, Li; Parkhurst, Amy; Jeffery, William R

    2013-01-01

    Albinism, the loss of melanin pigmentation, has evolved in a diverse variety of cave animals but the responsible evolutionary mechanisms are unknown. In Astyanax mexicanus, which has a pigmented surface dwelling form (surface fish) and several albino cave-dwelling forms (cavefish), albinism is caused by loss of function mutations in the oca2 gene, which operates during the first step of the melanin synthesis pathway. In addition to albinism, cavefish have evolved differences in behavior, including feeding and sleep, which are under the control of the catecholamine system. The catecholamine and melanin synthesis pathways diverge after beginning with the same substrate, L-tyrosine. Here we describe a novel relationship between the catecholamine and melanin synthesis pathways in Astyanax. Our results show significant increases in L-tyrosine, dopamine, and norepinephrine in pre-feeding larvae and adult brains of Pachón cavefish relative to surface fish. In addition, norepinephrine is elevated in cavefish adult kidneys, which contain the teleost homologs of catecholamine synthesizing adrenal cells. We further show that the oca2 gene is expressed during surface fish development but is downregulated in cavefish embryos. A key finding is that knockdown of oca2 expression in surface fish embryos delays the development of pigmented melanophores and simultaneously increases L-tyrosine and dopamine. We conclude that a potential evolutionary benefit of albinism in Astyanax cavefish may be to provide surplus L-tyrosine as a precursor for the elevated catecholamine synthesis pathway, which could be important for adaptation to the challenging cave environment.

  4. A potential benefit of albinism in Astyanax cavefish: downregulation of the oca2 gene increases tyrosine and catecholamine levels as an alternative to melanin synthesis.

    Directory of Open Access Journals (Sweden)

    Helena Bilandžija

    Full Text Available Albinism, the loss of melanin pigmentation, has evolved in a diverse variety of cave animals but the responsible evolutionary mechanisms are unknown. In Astyanax mexicanus, which has a pigmented surface dwelling form (surface fish and several albino cave-dwelling forms (cavefish, albinism is caused by loss of function mutations in the oca2 gene, which operates during the first step of the melanin synthesis pathway. In addition to albinism, cavefish have evolved differences in behavior, including feeding and sleep, which are under the control of the catecholamine system. The catecholamine and melanin synthesis pathways diverge after beginning with the same substrate, L-tyrosine. Here we describe a novel relationship between the catecholamine and melanin synthesis pathways in Astyanax. Our results show significant increases in L-tyrosine, dopamine, and norepinephrine in pre-feeding larvae and adult brains of Pachón cavefish relative to surface fish. In addition, norepinephrine is elevated in cavefish adult kidneys, which contain the teleost homologs of catecholamine synthesizing adrenal cells. We further show that the oca2 gene is expressed during surface fish development but is downregulated in cavefish embryos. A key finding is that knockdown of oca2 expression in surface fish embryos delays the development of pigmented melanophores and simultaneously increases L-tyrosine and dopamine. We conclude that a potential evolutionary benefit of albinism in Astyanax cavefish may be to provide surplus L-tyrosine as a precursor for the elevated catecholamine synthesis pathway, which could be important for adaptation to the challenging cave environment.

  5. The albinism of the feral Asinara white donkeys (Equus asinus) is determined by a missense mutation in a highly conserved position of the tyrosinase (TYR) gene deduced protein.

    Science.gov (United States)

    Utzeri, V J; Bertolini, F; Ribani, A; Schiavo, G; Dall'Olio, S; Fontanesi, L

    2016-02-01

    A feral donkey population (Equus asinus), living in the Asinara National Park (an island north-west of Sardinia, Italy), includes a unique white albino donkey subpopulation or colour morph that is a major attraction of this park. Disrupting mutations in the tyrosinase (TYR) gene are known to cause recessive albinisms in humans (oculocutaneous albinism Type 1; OCA1) and other species. In this study, we analysed the donkey TYR gene as a strong candidate to identify the causative mutation of the albinism of these donkeys. The TYR gene was sequenced from 13 donkeys (seven Asinara white albino and six coloured animals). Seven single nucleotide polymorphisms were identified. A missense mutation (c.604C>G; p.His202Asp) in a highly conserved amino acid position (even across kingdoms), which disrupts the first copper-binding site (CuA) of functional protein, was identified in the homozygous condition (G/G or D/D) in all Asinara white albino donkeys and in the albino son of a trio (the grey parents had genotype C/G or H/D), supporting the recessive mode of inheritance of this mutation. Genotyping 82 donkeys confirmed that Asinara albino donkeys had genotype G/G whereas all other coloured donkeys had genotype C/C or C/G. Across-population association between the c.604C>G genotypes and the albino coat colour was highly significant (P = 6.17E-18). The identification of the causative mutation of the albinism in the Asinara white donkeys might open new perspectives to study the dynamics of this putative deleterious allele in a feral population and to manage this interesting animal genetic resource.

  6. 白化病的分子遗传学研究进展%Research Progress in Molecular Genetics in Albinism

    Institute of Scientific and Technical Information of China (English)

    胡浩; 贾政军

    2016-01-01

    Albinism is a rare genetic condition characterized by poor vision and a variable hypopigmenta-tion phenotype.The absence or decrease in pigmentation can occur in the skin,hair and the eyes(oculocuta-neous albinism,OCA) or only pigmentation impair in the eyes(ocular albinism,OA).Ever since 2013,great progress has been made in the field of molecular genetics of albinism,three new loci (OCA5,OCA6 and OCA7) have been mapped and two OCA associated genes(C10orf11 and SLC24A5) identified.%白化病是一类罕见的遗传性疾病,具有特征性的视觉系统缺陷,表现为视力差,并伴发不同程度的色素缺失,其色素缺失可累及眼睛、皮肤和毛发[即眼皮肤白化病(OCA)]或仅累及眼睛[即眼白化病( OA)]。2013年来,白化病的分子遗传学领域取得重大进展,陆续定位了3个新的OCA位点(OCA5、OCA6和OCA7),并确定了2个OCA相关基因(C10orf11和SLC24A5)。

  7. A novel missense mutation of the TYR gene in a pedigree with oculocutaneous albinism type 1 from China

    Institute of Scientific and Technical Information of China (English)

    LIN Yu-ying; WEI Ai-hua; ZHOU Zhi-yong; ZHU Wei; HE Xin; LIAN Shi

    2011-01-01

    Background The mutation of the tyrosinase (TYR) gene results in oculocutaneous albinism type 1 (OCA1),an autosomal recessive genetic disorder.OCA1 is the most common type of OCA in the Chinese population.Hence,the TYR gene was tested in this study.We also delineated the genetic analysis of OCA1 in a Chinese family.Methods Genomic DNA was isolated from the blood leukocytes of a proband and his family.Mutational analysis at the TYR locus by DNA sequencing was used to screen five exons,including the intron/exon junctions.A pedigree chart was drawn and the fundus of the eyes of the proband was also examined.Results A novel missense mutation p.1151S on exon 1,and homozygous TYR mutant alleles were identified in the proband.None of the mutants was identified among the 100 normal control subjects.Genetic analysis of the proband's wife showed normal alleles in the TYR gene.Thus,the fetus was predicated a carrier of OCA1 with a normal appearance.Conclusion This study provided new information about a novel mutation,p.l151S,in the TYR gene in a Chinese family with OCA1.Further investigation of the proband would be helpful to determine the effects of this mutation on TYR activity.

  8. Oculocutaneous Albinism and Squamous Cell Carcinoma of the Skin of the Head and Neck in Sub-Saharan Africa

    Directory of Open Access Journals (Sweden)

    P. T. Lekalakala

    2015-01-01

    Full Text Available Oculocutaneous albinism which is characterised by impaired melanin biosynthesis is the most common inherited pigmentary disorder of the skin and it is common among Blacks in sub-Saharan Africa. All albinos are at great risk of developing squamous cell carcinoma of sun-exposed skin, and Black albinos in sub-Saharan Africa are at about a 1000-fold higher risk of developing squamous cell carcinoma of the skin than the general population. In Black albinos, skin carcinoma tends to run an aggressive course and is likely to recur after treatment, very probably because the aetiology and predisposing factors have not changed. Prevention or reduction of occurrence of squamous cell carcinoma of the skin in Black albinos might be achieved through educating the population to increase awareness of the harmful effects of exposure to sunlight and at the same time making available effective screening programs for early detection of premalignant and malignant skin lesions in schools and communities and for early treatment.

  9. Tyrosinase-positive oculocutaneous albinism in Southern African blacks: P gene-associated haplotypes suggest a major mutation in the 5{prime} region of the gene

    Energy Technology Data Exchange (ETDEWEB)

    Ramsay, M.; Stevens, G.; Beukering, J. van [Univ. of the Witwatersrand, Johannesburg (South Africa)] [and others

    1994-09-01

    Tyrosinase-positive oculocutaneous albinism (ty-pos OCA) occurs with a prevalence of 1 in 3900 among Southern African (SA) blacks. The major contributors to morbidity and mortality are skin cancer and decreased visual acuity. Two distinct phenotypes occur, namely individuals with ephelides (darkly pigmented patches) and those without. There is complete concordance with regard to ephelus status among siblings. The disorder is linked to markers on chromosome 15q11.2-q12, and no obligatory cross-overs were observed with polymophic markers at the human homolog, P, of the mouse pink eyed dilute gene, p. Contrary to what has been shown for Caucasoid ty-pos OCA, this condition shows locus homogeneity among SA blacks. The P gene is an excellent candidate for ty-pos OCA and mutations in this gene will confirm its role in causing the common form of albinism in SA. Numerous P gene mutations have been described in other populations. In an attempt to detect mutations, the P gene cDNA was used to search for structural rearrangements or polymorphisms. Six polymorphisms (plR10/Scal, 912/Xbal, 912/HincII, 912/TaqI, 1412/TaqI [two systems] and 1412/HindIII) were detected with subclones of the P cDNA and haplotypes were determined in each family. None were clearly associated with an albinism-related rearrangement. However, strong linkage disequilibrium was observed with alleles at loci toward the 5{prime} region of the gene ({triangle}=0.65, 0.57 and 0.80 for the three polymorphisms detected with the 912 subclone), suggesting a major ty-pos OCA mutation in this region. Haplotype analysis provides evidence for a major mutation associated with the same haplotype in individuals with ephelides (8/12 OCA chromosomes) and those without ephelides (24:30). The presence of other ty-pos OCA associated haplotypes indicates several other less common mutations.

  10. A nonsense nucleotide substitution in the oculocutaneous albinism II gene underlies the original pink-eyed dilution allele (Oca2p ) in mice

    OpenAIRE

    SHOJI, Haruka; Kiniwa, Yukiko; Okuyama, Ryuhei; Yang, Mu; Higuchi, Keiichi; Mori, Masayuki

    2015-01-01

    The original pink-eyed dilution (p) on chromosome 7 is a very old spontaneous mutation in mice. The oculocutaneous albinism II (Oca2) gene has previously been identified as the p gene. Oca2 transcripts have been shown to be absent in the skin of SJL/J mice with the original p mutant allele (Oca2p ); however, the molecular genetic lesion underlying the original Oca2p allele has never been reported. The NCT mouse (commonly known as Nakano cataract mouse) has a pink-eyed dilution phenotype, whic...

  11. An intragenic deletion of the P gene is the common mutation causing tyrosinase-positive oculocutaneous albinism in southern African Negroids.

    OpenAIRE

    Stevens, G; van Beukering, J; Jenkins, T; Ramsay, M.

    1995-01-01

    Tyrosinase-positive oculocutaneous albinism (OCA2), an autosomal recessive disorder of the melanin biosynthetic pathway, is the most common recessive disorder occurring in southern African Bantu-speaking Negroids, with an overall prevalence of 1/3,900. The OCA2 gene, P, has been mapped to chromosome 15q11-q13, and recently alterations in the P gene have been identified in OCA2 individuals. An intragenic deletion has been described and proposed to be of African origin because of its occurrence...

  12. Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: A new subtype of albinism classified as {open_quotes}OCA3{close_quotes}

    Energy Technology Data Exchange (ETDEWEB)

    Boissy, R.E.; Zhao, H.; Austin, L.M.; Boissy, Y.L.; Zhao, Y. [Univ. of Cincinnati College of Medicine, OH (United States)] [and others

    1996-06-01

    Most types of human oculocutaneous albinism (OCA) result from mutations in the gene for tyrosinase (OCA1) or the P protein (OCA2), although other types of OCA have been described but have not been mapped to specific loci. Melanocytes were cultured from an African-American with OCA, who exhibited the phenotype of Brown OCA, and his normal fraternal twin. Melanocytes cultured from the patient with OCA and the normal twin appeared brown versus black, respectively. Melanocytes from both the patient with OCA and the normal twin demonstrated equal amounts of NP-40-soluble melanin; however, melanocytes from the patient with OCA contained only 7% of the amount of insoluble melanin found from the normal twin. Tyrosinase-related protein-1 (TRP-1) was not detected in the OCA melanocytes by use of various anti-TRP-1 probes. Furthermore, transcripts for TRP-1 were absent in cultured OCA melanocytes. The affected twin was homozygous for a single-bp deletion in exon 6, removing an A in codon 368 and leading to a premature stop at codon 384. Tyrosine hydroxylase activity of the OCA melanocytes was comparable to controls when assayed in cell lysates but was only 30% of controls when assayed in intact cells. We conclude that this mutation of the human TRP-1 gene affects its interaction with tyrosinase, resulting in dysregulation of tyrosinase activity, promotes the synthesis of brown versus black melanin, and is responsible for a third genetic type of OCA in humans, which we classify as {open_quotes}OCA3.{close_quotes} 69 refs., 7 figs., 3 tabs.

  13. Prevalence and profile of ophthalmic disorders in oculocutaneous albinism: a field report from South-Eastern Nigeria.

    Science.gov (United States)

    Udeh, N N; Eze, B I; Onwubiko, S N; Arinze, O C; Onwasigwe, E N; Umeh, R E

    2014-12-01

    To assess the burden and spectrum of refractive and non-refractive ophthalmic disorders in south-eastern Nigerians with oculocutaneous albinism. In a population-based survey in Enugu state, between August, 2011 and January, 2012, albinos were identified using the database of the Enugu state's Albino Foundation, and mass media-based mobilisation. The participants were enrolled at the Eye Clinics of the University of Nigeria Teaching Hospital and Enugu State University of Science and Technology Teaching Hospital using a defined protocol. Relevant socio-demographic and clinical data were obtained from each participant. Descriptive and comparative statistics were performed. Statistical significance was indicated by p < 0.05. The participants (n = 153; males, 70) were aged 23.5 + 10.4 SD years (range 6-60 years). Both refractive and non-refractive disorders were present in all participants. Non-refractive disorders comprised nystagmus, foveal hypoplasia, hypopigmented fundi and prominent choroidal vessels in 100.0% participants; and strabismus in 16.3% participants. Refractive disorders comprised astigmatism -73.2% eyes, myopia -23.9% and hypermetropia 2.9%. Spherical refractive errors ranged from -14.00 DS to +8.00 DS while astigmatic errors ranged from -6.00 DC to +6 DC. Mixed refractive and non-refractive disorder i.e. presenting visual impairment was present in 100.0% participants. Overall, refractive error was associated with non-possession of tertiary education (OR 0.61; 95% CI 0.38-0.96; p = 0.0374). There is high prevalence of refractive, non-refractive and mixed ophthalmic disorders among albinos in south-eastern Nigeria. This underscores the need for tailored provision of resources to address their eye care needs, and creation of needs awareness amongst them.

  14. A frequent tyrosinase gene mutation associated with type I-A (tyroinase-negative) oculocutaneous albinism in Puerto Rico

    Energy Technology Data Exchange (ETDEWEB)

    Oetting, W.S.; Witkop, C.J. Jr.; Brown, S.A.; Fryer, J.P.; Bloom, K.E.; King, R.A. (Univ. of Minnesota, Minneapolis (United States)); Colomer, R. (Servicio Medico de Empressa de la ONCE, Canary Islands (Spain))

    1993-01-01

    The authors have determined the mutations in the tyrosinase gene from 12 unrelated Puerto Rican individuals who have type I-A (tyrosinase-negative) oculocutaneous albinism (OCA). All but one individual are of Hispanic descent. Nine individuals were homozygous for a missense mutation (G47D) in exon I at codon 47. Two individuals were heterozygous for the G47D mutation, with one having a missense mutation at codon 373 (T373K) in the homologous allele and the other having an undetermined mutation in the homologous allele. One individual with negroid features was homozygous for a nonsense mutation (W236X). The population migration between Puerto Rico and the Canary Islands is well recognized. Analysis of three individuals with OCA from the Canary Islands showed that one was a compound heterozygote for the G47D mutation and for a novel missense mutation (L216M), one was homozygous for a missense mutation (P81L), and one was heterozygous for the missense mutation P81L. The G47D and P81L missense mutations have been previously described in extended families in the United States. Haplotypes were determined using four polymorphisms linked to the tyrosinase locus. Haplotype analysis showed that the G47D mutation occurred on a single haplotype, consistent with a common founder for all individuals having this mutation. Two different haplotypes were found associated with the P81L mutation, suggesting that this may be either a recurring mutation for the tyrosinase gene or a recombination between haplotypes. 28 refs., 1 fig., 3 tabs.

  15. Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites.

    Science.gov (United States)

    Straniero, Letizia; Rimoldi, Valeria; Soldà, Giulia; Mauri, Lucia; Manfredini, Emanuela; Andreucci, Elena; Bargiacchi, Sara; Penco, Silvana; Gesu, Giovanni P; Del Longo, Alessandra; Piozzi, Elena; Asselta, Rosanna; Primignani, Paola

    2015-09-01

    Oculocutaneous albinism (OCA) is characterized by hypopigmentation of the skin, hair and eye, and by ophthalmologic abnormalities caused by a deficiency in melanin biosynthesis. OCA type IV (OCA4) is one of the four commonly recognized forms of albinism, and is determined by mutation in the SLC45A2 gene. Here, we investigated the genetic basis of OCA4 in an Italian child. The mutational screening of the SLC45A2 gene identified two novel potentially pathogenic splicing mutations: a synonymous transition (c.888G>A) involving the last nucleotide of exon 3 and a single-nucleotide insertion (c.1156+2dupT) within the consensus sequence of the donor splice site of intron 5. As computer-assisted analysis for mutant splice-site prediction was not conclusive, we investigated the effects on pre-mRNA splicing of these two variants by using an in vitro minigene approach. Production of mutant transcripts in HeLa cells demonstrated that both mutations cause the almost complete abolishment of the physiologic donor splice site, with the concomitant unmasking of cryptic donor splice sites. To our knowledge, this work represents the first in-depth molecular characterization of splicing defects in a OCA4 patient. PMID:26016411

  16. Identification of a novel mutation (p.Ile198Thr) in gene TYR in a Pakistani family with nonsyndromic oculocutaneous albinism.

    Science.gov (United States)

    Shah, S A; Din, S U; Raheem, N; Daud, S; Mubeen, J; Nadeem, A; Tayyab, M; Baloch, D M; Babar, M E; Ahmad, J

    2014-07-01

    The TYR gene (MIM #6069333) is located at position 11q14.3 on the human chromosome, and encodes tyrosinase, which is expressed in melanocytes and controls the biosynthesis of melanin. Most TYR mutations eliminate the activity of tyrosinase, preventing melanocytes from producing any melanin throughout life. People with this form of albinism have white hair, light-coloured eyes and very pale skin. Some mutations in TYR reduce but do not completely eliminate tyrosinase activity, and allow some melanin to be produced. We report a Pakistani family with four members affected by oculocutaneous albinism (OCA). Blood samples were collected from all affected individuals, normal siblings and their parents. Genomic DNA was extracted, and sequence analysis of all the coding exons and adjacent intronic sequences of TYR was performed, which identified a novel missense substitution (p.Ile198Thr). Sequencing of TYR in 90 unrelated healthy individuals showed no sequence variant at this location. Our study expands the mutational spectrum of OCA1.

  17. Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites.

    Science.gov (United States)

    Straniero, Letizia; Rimoldi, Valeria; Soldà, Giulia; Mauri, Lucia; Manfredini, Emanuela; Andreucci, Elena; Bargiacchi, Sara; Penco, Silvana; Gesu, Giovanni P; Del Longo, Alessandra; Piozzi, Elena; Asselta, Rosanna; Primignani, Paola

    2015-09-01

    Oculocutaneous albinism (OCA) is characterized by hypopigmentation of the skin, hair and eye, and by ophthalmologic abnormalities caused by a deficiency in melanin biosynthesis. OCA type IV (OCA4) is one of the four commonly recognized forms of albinism, and is determined by mutation in the SLC45A2 gene. Here, we investigated the genetic basis of OCA4 in an Italian child. The mutational screening of the SLC45A2 gene identified two novel potentially pathogenic splicing mutations: a synonymous transition (c.888G>A) involving the last nucleotide of exon 3 and a single-nucleotide insertion (c.1156+2dupT) within the consensus sequence of the donor splice site of intron 5. As computer-assisted analysis for mutant splice-site prediction was not conclusive, we investigated the effects on pre-mRNA splicing of these two variants by using an in vitro minigene approach. Production of mutant transcripts in HeLa cells demonstrated that both mutations cause the almost complete abolishment of the physiologic donor splice site, with the concomitant unmasking of cryptic donor splice sites. To our knowledge, this work represents the first in-depth molecular characterization of splicing defects in a OCA4 patient.

  18. Cloning and Expression Analysis of Related Gene in Wheat(Triticum aestivum L.)Albinism Line%小麦返白系相关基因的克隆与表达

    Institute of Scientific and Technical Information of China (English)

    侯典云; 胥华伟; 杜光源; 郭蔼光; 徐虹

    2013-01-01

    In order to study the molecular mechanism of the " albino-after green" in wheat ( Triticum aestivum L. ) albinism line, we have designed the PCR primer with the LSC of Chloroplasts genome sequence in Chinese spring wheat. We have amplified the related gene segment in chinese spring wheat, albinism line and Aibian 1 and get the specific gene fragment WFC01 in albinism line. The total RNA has been extracted from leaves in Chinese spring wheat, Aibian 1 and albinism line. WFC01 was the probe for northern blot. The results show that the expression of gene WFC01 has been inhibition along with the leaves albinism in albinism line compared with albinism line and Chinese spring wheat. The gene WFC01 expression was back to normal with the leaves get green.%为研究小麦返白系阶段性“白化-复绿”的分子机制,以中国春小麦叶绿体基因组序列的LSC区为参考序列,分段设计引物,PCR扩增中国春、矮变1号、返白系的相应基因片段,在返白系中获得特异基因片段WFC01.提取中国春、矮变1号幼嫩叶片和返白系白化及复绿叶片总RNA,毛细管法转膜,WFC01为探针进行Northern杂交.结果表明,与对照矮变1号和中国春相比,返白系随着叶片的白化,WFC01基因片段的表达受到明显抑制,几乎无表达,随着叶片的复绿,WFC01基因片段的表达恢复正常,与对照表达量一致,表明该基因的表达与返白系的阶段性白化、复绿有关.

  19. Analysis of P gene mutations in patients with type II (tyrosinase-positive) oculocutaneous albinism (OCA2)

    Energy Technology Data Exchange (ETDEWEB)

    Lee, S.T.; Nicholls, R.D.; Schnur, R. [Univ. of Wisconsin, Madison, WI (United States)]|[Case Western Reserve Univ., Cleveland, OH (United States)]|[Children`s Hospital of Philadelphia, PA (United States)] [and others

    1994-09-01

    OCA2 is an autosomal recessive disorder in which the biosynthesis of melanin pigment is greatly reduced in the skin, hair, and eyes. Recently, we showed that OCA2 results from mutations of the P gene, in chromosome segment 15q11-q13. In addition to OCA2, mutations of P account for OCA associated with the Prader-Willi syndrome and some cases of {open_quotes}autosomal recessive ocular albinism{close_quotes} (AROA). We have now studied 38 unrelated patients with various forms of OCA2 or AROA from a variety of different ethnic groups. None of these patients had detectable abnormalities of the tyrosinase (TYR) gene. Among 8 African-American patients with OCA2 we observed apparent locus homogeneity. We detected abnormalities of the P gene in all 8 patients, including 12 different mutations and deletions, most of which are unique to this group and none of which is predominant. In contrast, OCA2 in other populations appears to be genetically heterogeneous. Among 21 Caucasian patients we detected abnormalities of the P gene in only 8, comprising 9 different point mutations and deletions, some of which also occurred among the African-American patients. Among 3 Middle-Eastern, 3 Indo-Pakistani, and 3 Asian patients we detected mutations of the P gene in only one from each group. In a large Indo-Pakistani kindred with OCA2 we have excluded both the TYR and P genes on the basis of genetic linkage. The prevalence of mutations of the P gene thus appears to be much higher among African-Americans with OCA2 than among patients from other ethnic groups. The incidence of OCA2 in some parts of equatorial Africa is extremely high, as frequent as 1 per 1100, and the disease has been linked to P in South African Bantu. The eventual characterization of P gene mutations in Africans will be informative with regard to the origins of P gene mutations in African-American patients.

  20. A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinism

    Energy Technology Data Exchange (ETDEWEB)

    Chintamaneni, C.D.; Kobayashi, Y.; Kwon, B.S. (Indiana Univ. School of Medicine, Indianapolis (United States)); Halaban, R. (Yale Univ. School of Medicine, New Haven, CT (United States)); Witkop, C.J. Jr. (Univ. of Minnesota, Minneapolis (United States))

    1991-06-15

    The authors have determined a molecular defect to be the likely basis for inactivity of the tyrosinase from a patient with tyrosinase-negative oculocutaneous albinism. A single base (thymine) was inserted in exon 5 of the tyrosinase gene following codon 471 in the putative transmembrane coding region. This insertion caused a shift in the reading frame of 19 amino acids at the 3{prime} end and introduced a premature termination signal that would be expected to truncate the protein by 21 amino acids at the carboxyl terminus. The albino tyrosinase was not recognized by antibodies directed to the carboxyl terminus of tyrosinase. Furthermore, as shown by gel electrophoresis of the immunoprecipitated protein, the tyrosinase was {approx} 3kDa smaller than normal. Similar immunoprecipitation data were obtained when cloned normal and mutant tyrosinases were expressed in COS-1 cells.

  1. A nonsense nucleotide substitution in the oculocutaneous albinism II gene underlies the original pink-eyed dilution allele (Oca2(p)) in mice.

    Science.gov (United States)

    Shoji, Haruka; Kiniwa, Yukiko; Okuyama, Ryuhei; Yang, Mu; Higuchi, Keiichi; Mori, Masayuki

    2015-01-01

    The original pink-eyed dilution (p) on chromosome 7 is a very old spontaneous mutation in mice. The oculocutaneous albinism II (Oca2) gene has previously been identified as the p gene. Oca2 transcripts have been shown to be absent in the skin of SJL/J mice with the original p mutant allele (Oca2(p)); however, the molecular genetic lesion underlying the original Oca2(p) allele has never been reported. The NCT mouse (commonly known as Nakano cataract mouse) has a pink-eyed dilution phenotype, which prompted us to undertake a molecular genetic analysis of the Oca2 gene of this strain. Our genetic linkage analysis suggests that the locus for the pink-eyed dilution phenotype of NCT is tightly linked to the Oca2 locus. PCR cloning and nucleotide sequence analysis indicates that the NCT mouse has a nonsense nucleotide substitution at exon 7 of the Oca2 gene. Examination of three mouse strains (NZW/NSlc, SJL/J, and 129X1/SvJJmsSlc) with the original Oca2(p) allele revealed the presence of a nonsense nucleotide substitution identical to that in the NCT strain. RT-PCR analysis revealed that the Oca2 transcripts were absent in the skin of NCT mice, suggesting intervention of the nonsense-mediated mRNA decay pathway. Collectively, the data in this study indicate that the nonsense nucleotide substitution in the Oca2 gene underlies the Oca2(p) allele. Our data also indicate that the NCT mouse can be used not only as a cataract model, but also as a model for human type II oculocutaneous albinism.

  2. Improving the efficiency of isolated microspore culture in six-row spring barley: II-exploring novel growth regulators to maximize embryogenesis and reduce albinism.

    Science.gov (United States)

    Esteves, Patricio; Clermont, Isabelle; Marchand, Suzanne; Belzile, François

    2014-06-01

    Two alternative cytokinins, thidiazuron and meta-topoline, were tested in isolated microspore culture on recalcitrant barley genotypes (six-row, spring), and green plant regeneration was improved substantially. Doubled-haploid (DH) plants are coveted in plant breeding and in genetic studies, since they are rapidly obtained and perfectly homozygous. In barley, DHs are produced mainly via androgenesis, and isolated microspore culture (IMC) constitutes the method offering the greatest potential efficiency. However, IMC can often be challenging in some genotypes because of low yield of microspores, low regeneration and high incidence of albinism. Six-row spring-type barleys, the predominant type grown in Eastern Canada, are considered recalcitrant in this regard. Our general objective was to optimize an IMC protocol for DH production in six-row spring barley. In particular, we explored the use of alternative hormones in the induction medium (thidiazuron and dicamba), and in the regeneration medium (meta-topoline). This optimization was performed on two typical six-row spring (ACCA and Léger), a two-row spring (Gobernadora) and a two-row winter (Igri) barley cultivar. When 6-benzyl-aminopurine (BAP) was replaced by a combination of thidiazuron and dicamba in the induction medium, a 5.1-fold increase (P IMC in this recalcitrant type of barley. These results were later successfully validated using sets of F1s from a six-row spring barley breeding program. PMID:24519013

  3. Structural insight with mutational impact on tyrosinase and PKC-β interaction from Homo sapiens: Molecular modeling and docking studies for melanogenesis, albinism and increased risk for melanoma.

    Science.gov (United States)

    Banerjee, Arundhati; Ray, Sujay

    2016-10-30

    Human tyrosinase, is an important protein for biosynthetic pathway of melanin. It was studied to be phosphorylated and activated by protein kinase-C, β-subunit (PKC-β) through earlier experimentations with in vivo evidences. Documentation documents that mutation in two essentially vital serine residues in C-terminal end of tyrosinase leads to albinism. Due to the deficiency of protective shield like enzyme; melanin, albinos are at an increased peril for melanoma and other skin cancers. So, computational and residue-level insight including a mutational exploration with evolutionary importance into this mechanism lies obligatory for future pathological and therapeutic developments. Therefore, functional tertiary models of the relevant proteins were analyzed after satisfying their stereo-chemical features. Evolutionarily paramount residues for the activation of tyrosinase were perceived via multiple sequence alignment phenomena. Mutant-type tyrosinase protein (S98A and S102A) was thereby modeled, maintaining the wild-type proteins' functionality. Furthermore, this present comparative study discloses the variation in the stable residual participation (for mutant-type and wild-type tyrosinase-PKCβ complex). Mainly, an increased number of polar negatively charged residues from the wild-type tyrosinase participated with PKC-β, predominantly. Fascinatingly supported by evaluation of statistical significances, mutation even led to a destabilizing impact in tyrosinase accompanied by conformational switches with a helix-to-coil transition in the mutated protein. Even the allosteric sites in the protein got poorly hampered upon mutation leading to weaker tendency for binding partners to interact.

  4. Suspected pathogenic mutation identified in two cases with oculocutaneous albinism%眼皮肤白化病基因一种可疑致病突变二例

    Institute of Scientific and Technical Information of China (English)

    贺江梅; 郑梅玲; 张桂林; 化爱玲

    2015-01-01

    目的 对两对曾生育白化病患儿的夫妇进行非综合征型眼皮肤白化病Ⅰ~Ⅳ型和眼白化病Ⅰ型相关基因的突变筛查,以了解携带者的突变类型.方法 对非综合征型白化病相关基因TYR、OCA2、TYRP-1、MITF、SLC45A2和GPR143各外显子进行深度测序,并通过Sanger测序验证结果.结果 两位女性携带者均在TYR基因编码区发现了1个框移突变c.925_926insC,分析其为可疑致病突变.一例男性携带者在TYR基因编码区发现1个无义突变c.832C>T,为已知致病突变,另一例男性携带者则在其TYR基因的编码区发现了一种已知的致病无义突变c.346C>T.结论 TYR基因编码区的c.925_926insC为OCA1型的可疑致病性框移突变.%Objective To detect potential mutations in genes related with non syndromic oculocutaneous albinism Ⅰ-Ⅳ and ocular albinism type Ⅰ in two couples who had given births to children with albinism.Methods All exons of the non-syndromic albinism related genes TYR,OCA2,TYRP-1,MITF,SLC45A2 and GPR143 were subjected to deep sequencing.The results were verified with Sanger sequencing.Results For the two female carriers,the coding region of the TYR gene was found to harbor a frameshift mutation c.925_926insC,which was also suspected to have been pathogenic.In one of the male partners,a nonsense mutations c.832C>T was found,which was also known to be pathogenic.Another male partner was found to harbor a TYR gene mutation c.346C>T,which was also known to be a pathogenic nonsense mutation.Conclusion The coding region of the TYR gene c.925_ 926insC (p.Thr309ThrfsX9) probably underlies the OCA1 disease phenotype.

  5. Hermansky F, Pudlak P. Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood. 1959;14(2):162-169.

    Science.gov (United States)

    2016-04-01

    This landmark article by Frantisek Hermansky and Paulus Pudlak, clinicians in Prague, Czechoslovakia, is the first to describe 2 unrelated individuals with what is now called Hermansky-Pudlak syndrome, a bleeding disorder that occurs in association with oculocutaneous albinism. The definition of this syndrome resulted not only in improved care of these patients but also in a functional and molecular understanding of the disease and the role of dense granule secretion in platelet function. Hermansky-Pudlak syndrome is now known to be related to defective dense granule biogenesis due to mutations in any of ≥9 different genes.

  6. Prenatal gene diagnosis of oculocutaneous albinism typeⅠ%眼皮肤白化病Ⅰ型产前基因诊断

    Institute of Scientific and Technical Information of China (English)

    李洪义; 吴维青; 郑辉; 段红蕾; 陈争; 陈路明

    2006-01-01

    目的对已生育过眼皮肤白化病Ⅰ型(oculocutaneous albinism typeⅠ, OCA1)患儿的两个家系进行酪氨酸酶(tyrosinase, TYR)基因TYR的突变研究和产前基因诊断.方法应用PCR技术扩增TYR基因各外显子、外显子-内含子交界区及启动子区,直接以DNA序列测定技术分析先证者或其父母的基因突变,明确致病性突变后,检测胎儿TYR基因相应位点的DNA序列,获知胎儿的基因型.结果家系1的先证者为R278X和929insC突变复合杂合子;胎儿未获得这2种突变等位基因,基因型和表型均正常.家系2先证者的父母分别为IVS4+3A→T和G253E突变的杂合子,胎儿只获得了父源性的IVS4+3A→T突变等位基因,未获得母源性G253E突变等位基因,胎儿为表型正常的致病基因携带者.结论此为中国大陆首次真正意义上的OCA1产前基因诊断;应用上述基因分析方法进行OCA1产前基因诊断是可行的.

  7. 眼皮肤白化病Ⅰ型产前基因诊断二例%Prenatal genetic diagnosis for two Chinese oculocutaneous albinism type Ⅰ families

    Institute of Scientific and Technical Information of China (English)

    胡浩; 王华; 刘沁; 贾政军

    2014-01-01

    目的 对生育过眼皮肤白化病(oculocutaneous albinism,OCA)患儿的2个家系进行基因诊断分型,并在此基础上提供产前基因诊断.方法 采用PCR扩增先证者OCA 1型疾病相关基因TYR的所有5个编码外显子,PCR产物直接测序,在确定致病突变的基础上对及家系成员进行综合分析.结果 2个OCA先证者均携带TYR基因复合杂合突变,确定2例先证者均为OCA1型患者.TYR基因共检测到3种突变:c.71G>A,c.896G>A和c.929insC.产前诊断:第1个家系提示胎儿基因型与先证者一致,家属选择终止妊娠;第2个家系中胎儿为TYR基因野生型携带者,继续妊娠至足月分娩,新生儿随访正常.结论 利用基因检测可为眼皮肤白化病患者提供确切的临床分型,并在此基础上提供有效的产前基因诊断.

  8. A Functional Study of Mutations in K+-dependent Na+-Ca2+ Exchangers Associated with Amelogenesis Imperfecta and Non-syndromic Oculocutaneous Albinism.

    Science.gov (United States)

    Jalloul, Ali H; Rogasevskaia, Tatiana P; Szerencsei, Robert T; Schnetkamp, Paul P M

    2016-06-17

    K(+)-dependent Na(+)/Ca(2+) exchangers belong to the solute carrier 24 (SLC24A1-5) gene family of membrane transporters. Five different gene products (NCKX1-5) have been identified in humans, which play key roles in biological processes including vision, olfaction, and skin pigmentation. NCKXs are bi-directional membrane transporters that transport 1 Ca(2+)+K(+) ions in exchange for 4 Na(+) ions. Recent studies have linked mutations in the SLC24A4 (NCKX4) and SLC24A5 (NCKX5) genes to amylogenesis imperfecta (AI) and non-syndromic oculocutaneous albinism (OCA6), respectively. Here, we introduced mutations found in patients with AI and OCA6 into human SLC24A4 (NCKX4) cDNA leading to single residue substitutions in the mutant NCKX4 proteins. We measured NCKX-mediated Ca(2+) transport activity of WT and mutant NCKX4 proteins expressed in HEK293 cells. Three mutant NCKX4 cDNAs represent mutations found in the SCL24A4 gene and three represent mutations found in the SCL24A5 gene involving residues conserved between NCKX4 and NCKX5. Five mutant proteins had no observable NCKX activity, whereas one mutation resulted in a 78% reduction in transport activity. Total protein expression and trafficking to the plasma membrane (the latter with one exception) were not affected in the HEK293 cell expression system. We also analyzed two mutations in a Drosophila NCKX gene that have been reported to result in an increased susceptibility for seizures, and found that both resulted in mutant proteins with significantly reduced but observable NCKX activity. The data presented here support the genetic analyses that mutations in SLC24A4 and SLC24A5 are responsible for the phenotypic defects observed in human patients. PMID:27129268

  9. Observation of a unique case of metastatic basal cell carcinoma found by radiographic evaluation in a patient with oculocutaneous albinism [v1; ref status: indexed, http://f1000r.es/2lw

    Directory of Open Access Journals (Sweden)

    Mickaila Johnston

    2014-01-01

    Full Text Available Background: Basal cell carcinoma is one of the more common cancers worldwide; 2.8 million are diagnosed annually in the USA.  However, the rate at which it metastasizes is considered very low, between 0.0028 and 0.5%.  For those rare cases in which metastases occur, approximately one third metastasize to the lung.  Case: Presented is a 62-year-old Caucasian male with oculocutaneous albinism and a history of basal cell carcinomas occurring in multiple anatomic sites, most recently at the bilateral forearm and back.  Surveillance PET/CT imaging led to the discovery of no less than 30 lung nodules which were consistent with basal cell carcinoma on biopsy.  Histological features were remarkably similar in both the primary tumor and in the metastases. Conclusion:  An unusual case of a non-head and neck primary basal cell carcinoma metastatic to the lung was discovered on surveillance PET/CT imaging, in a patient with oculocutaneous albinism.

  10. The tyrosinase-positive oculocutaneous albinism gene shows locus homogeneity on chromosome 15q11-q13 and evidence of multiple mutations in southern African negroids

    Energy Technology Data Exchange (ETDEWEB)

    Kedda, M.A.; Stevens, G.; Manga, P.; Viljoen, C.; Jenkins, T.; Ramsay, M. (South African Institute for Medical Research, Johannesburg (South Africa) Univ. of Witwatersrand, Johannesburg (South Africa))

    1994-06-01

    Tyrosinase-positive oculocutaneous albinism (ty-pos OCA) is an autosomal recessive disorder of the melanin pigmentary system. South African ty-pos OCA individuals occur with two distinct phenotypes, with or without darkly pigmented patches (ephelides, or dendritic freckles) on exposed areas of the skin. These phenotypes are concordant within families, suggesting that there may be more than one mutation at the ty-pos OCA locus. Linkage studies carried out in 41 families have shown linkage between markers in the Prader-Willi/Angelman syndrome (PWS/AS) region on chromosome 15q11-q13 and ty-pos OCA. Analysis showed no obligatory crossovers between the alleles at the D15S12 locus and ty-pos OCA, suggesting that the D15S12 locus is very close to or part of the disease locus, which is postulated to be the human homologue, P, of the mouse pink-eyed dilution gene, p. Unlike caucasoid [open quotes]ty-pos OCA[close quotes] individuals, negroid ty-pos OCA individuals do not show any evidence of locus heterogeneity. Studies of allelic association between the polymorphic alleles detected at the D15S12 locus and ephelus status suggest that there was a single major mutation giving rise to ty-pos OCA without ephelides. There may, however, be two major mutations causing ty-pos OCA with ephelides, one associated with D15S12 allele 1 and the other associated with D15S12 allele 2. The two loci, GABRA5 and D15S24, flanking D15S12, are both hypervariable, and many different haplotypes were observed with the alleles at the three loci on both ty-pos OCA-associated chromosomes and [open quotes]normal[close quotes] chromosomes. No haplotype showed statistically significant association with ty-pos OCA, and thus none could be used to predict the origins of the ty-pos OCA mutations. On the basis of the D15S12 results, there is evidence for multiple ty-pos OCA mutations in southern African negroids. 31 refs., 1 fig., 3 tabs.

  11. Clinical characteristics of ocular albinism type 1 in China%中国人眼白化病1型的临床特点观察

    Institute of Scientific and Technical Information of China (English)

    房绍华; 贾小云; 黎仕强; 郭向明

    2012-01-01

    [Objective] To observe the clinical characteristics of ocular albinism type 1 (OA1) in China.[Methods] Sixteen patients with OA1 and eight female carriers (eight OA1 patients and four carriers were from the same family) were enrolled in this study.All subjects were examined for corrected visual acuity,slit-lamp microscopy and GPR143 gene mutation detection.Some subjects also received indirect ophthalmoscopy,photography of anterior segment and ocular fundus,retinoscopy and optical coherence tomography (OCT).Iris pigmentation was divided into type A,B and C according to the above findings.Type A:slight pigmentation; type B:uneven pigmentation; type C:large patch of hypo-pigmentation with hippus.Result The corrected visual acuity of 16 OA1 patients was from 0.1 to 0.3.All the OAI patients have bilateral horizontal nystagmus without strabismus.All eight subjects received retinoscopy have medium to low hypermetropia and astigmatism.Type A,B and C iris pigmentation were found in eight (50.0%),seven (43.7%) and one (6.3%) patients,respectively.Two (25.0%) carriers have Type A iris pigmentation,and other six carriers (75.0%) were normal.There is no typical albinism retinopathy,however macular foveal structures were never found in these patients.Four carriers have fundus striate or uneven hypo-pigmentation.The macular foveal structure of all the carriers was normal.The macular foveal structure was not found in three subjects who underwent examination of OCT.GPR143 gene mutation was found in all the OA1 patients (100.0%) and all the carriers.[Conclusion]s The major clinical characteristics of Chinese OA1 patients are foveal hypoplasia and GPR143 gene mutation.%[目的]观察中国人眼白化病1型(OAI)的临床表现特点.[方法]临床和基因检查确诊的16例OA1患者及8例女性携带者纳入研究.其中8例患者和4例携带者来自同一个家系.所有患者和携带者均进行了矫正视力、详细的裂隙灯显微镜眼前节检查.16例

  12. Prenatal diagnosis of oculocutaneous albinism type Ⅳ and discovery of a novel mutation%眼皮肤白化病Ⅳ型产前基因诊断及一种MATP基因新突变

    Institute of Scientific and Technical Information of China (English)

    逄婷; 雷洁; 郑辉; 徐蓓; 蒋玮莹; 李洪义

    2011-01-01

    Objective To provide guidance for clinical genetic counseling and prenatal diagnosis of oculocutaneous albinism (OCA) in China. Methods PCR and automatic DNA sequencing were applied to obtain the genotypes of the patients and their parents in three Chinese albinism families. Prenatal gene diagnoses were performed at early pregnancy by chorionic villus sampling (CVS) or by amniocentesis at midpregnancy. Results The three patients were all OCA4, whose genotypes were G349R/c. 870delC, G349R/P419L, G349R/D160H, respectively. The three couples had been diagnosed as carriers. In family 1, the first fetus was diagnosed as affected. Termination of pregnancy was opted following genetic counseling. The second fetus (monozygotic twin) was heterozygous only with the paternal G349R mutation. The fetus in family 2 did not get either one of the two mutations. The fetus in family 3 was heterozygous only with the paternal G349R mutation. Conclusion This study detected three reported pathogenic mutations of the membrane associated transporter protein gene (MATP), including G349R, D160H and P419L, and identified a novel pathogenic mutation c. 870delC. The prenatal gene diagnosis of OCA4 will be important to prevent the birth of affected child.%目的 对3例眼皮肤白化病(oculocutaneous albinism,OCA)患儿进行分型诊断,并在此基础上开展OCA4产前基因诊断研究,为临床OCA遗传咨询和产前诊断提供指导.方法 应用聚合酶链反应及DNA序列测定技术,确定先证者及其父母的基因型后,取绒毛或羊水进行产前基因诊断.结果 3例患儿均为OCA4.家系1患儿母亲后来两次怀孕,第1次诊断为患儿,已选择流产,再次怀孕时诊断为父源G349R致病基因携带者.家系2产前诊断结果显示胎儿既未获得父源突变,也未获得母源突变.家系3产前诊断结果显示胎儿仅获得父源G349R突变.结论 检出MATP基因3种已报道的OCA4致病性突变G349R、D160H和P419L,发现1

  13. 白化病儿童的视功能及眼球震颤波形分析%Analysis about the wavelet of albinism children′s nystagmus

    Institute of Scientific and Technical Information of China (English)

    白大勇; 施维; 崔燕辉; 张诚玥; 胡曼; 李莉

    2016-01-01

    ,眼震多为水平冲动和钟摆样,可以使用红外视频眼震仪对白化病儿童的震频、振幅、震强及波形进行精确地量化检测。%Objective To evaluate the classify of albinism children′s nystagmus , examination , capacity of the videonystagmography and the relationship between the visual acuity and nystagmus . Methods The study included 23 albinism children ( 46 eyes ) who were examined by MG6B-5 LED magnifier.23 cases were examined by slit lamp and fundus photography .10 cases(20 eyes) were examined by Y-II videonystagmography and 4 cases(8 eyes) were examined by EYELINK videonystagmography among the 23 cases.16 cases ( 32 eyes ) were examined by international standard visual acuity chart .13 cases (26 eyes) underwent Inami synoptophore and Titumus Stereoacuity Test .The uncorrected visual acuity and average visual acuity was described by ( x-±s) ,compared with the t-test.Eye tremor frequency ,amplitude and strong earthquakes was described by (x-±s).And remediation visual correlation analysis ,Pearson correlation coefficients were calculated .Results All albinism children had fundus of abinoism and nystagmus syndrome,21 cases were found skin and hair depigmentation .The visual acuity of naked eyes was (0.12± 0.06) and corrected visual acuity was (0.13±0.09).There was no difference between corrected vision and naked ones in statistics (t=-1.050,P>0.05).13 cases(84.62%) had binocular simultaneous perception , 2 cases(15.38%) had binocular fusion,1 case(7.69%) had stereopsis by Inami synoptophore.4 cases (30.77%) can distinguish stereoscopic animals and 3 cases(23.08%) can distinguish stereoscopic circles by Titmus test.9 cases(45%) belonged to pure impulse nystagmus and 9 cases(45%) belonged to pure pendulum type nystagmus by videonystagmography .Conclusions Albinism can be classified by hair skin detection ,fundus examination to oculocutaneous ( OCA ) and ocular albinism ( OA ) .Albinism children′s eyesight and binocular visual

  14. 野生白化喜马拉雅旱獭体内寄生虫检测与控制%Survey on the internal parasites infection and control technique in albinism Marmota himalayana

    Institute of Scientific and Technical Information of China (English)

    陶元清

    2015-01-01

    Objective To investigate the internal parasites infection in albino Marmota himalayan,and to provide a basis for seting up the quality standard of Marmota himalayana.Methods 21 wild albinism and 30 wild nomal Marmota himalayana from the same origin were detected by method as intestinal parasites in stool examination and serological testing, toxoplasma gondii and echinococcosis parasite infections of each animal, then detected the internal parasites and eggs under platoscope and microscope.Results The natural infectious rate of the roundworm in wild albinism and nomal Marmota Himalayana were respectively 71.4% (15 /21) and 66.7% (20 /30), using the exact probability method of inspection, there was no significant difference in the roundworm infection rate between two groups marmota; antibody test results of Serum toxoplasma gondii and Echinoocosis were negative.Application of albendazole and Ivermectin injection drug expelling and purification, effect to be trusted.Conclusions Monitoring results and the cure method can be used as an albino Himalayan marmot displacement experiment of animal parasite quality monitoring index and purification method.%目的:调查白化旱獭重要病原体的自然感染状况,为建立白化旱獭寄生虫学质量控制标准提供依据。方法对21只野生的白化旱獭和30只正常毛色旱獭采用粪便检查法和血清学方法检测了蠕虫、弓形体、棘球蚴等体内寄生虫感染情况。结果51只野生白化喜马拉雅旱獭和正常毛色旱獭检出蠕虫1种,弓形体和棘球蚴抗体检测结果均为阴性。应用阿苯达唑片剂和伊维菌素注射液进行了旱獭体内寄生虫驱虫和净化,效果良好。结论监测结果初步表明白化旱獭寄生虫学质量符合种群动物的寄生虫要求。

  15. A de novo mutation of P gene causes oculocutaneous albinism type 2 with prenatal diagnosis%P基因新生突变致眼皮肤白化病Ⅱ型及其产前诊断

    Institute of Scientific and Technical Information of China (English)

    张丽芸; 徐蓓; 钟燕芳; 陈潇菲; 郑辉; 蒋玮莹; 李洪义

    2013-01-01

    目的 对生育一例眼皮肤白化病(oculocutaneous albinism,OCA)患儿的核心家系进行基因分型诊断,在确定致病基因及基因型后进行产前诊断.方法 应用聚合酶链反应扩增先证者4个OCA基因及其父母相应基因的外显子及外显子-内含子交界区,并进行DNA序列测定,明确先证者及其父母的OCA分型及基因型.对羊水细胞DNA进行相关基因的全外显子序列分析,明确胎儿的基因型.结果 先证者被确定为OCA2,基因型为c.1327G>A/c.2360C>T突变的复合杂合子,父亲为c.2360C>T突变杂合子.c.1327G>A为母源新生突变,胎儿的P基因未发现突变.结论 发现一例新生突变导致的OCA2患者.在进行OCA产前基因诊断时,为了防止新生突变的漏检,应对特定基因进行全序列检测.%Objective To determine the genotype of a family affected with oculocutaneous albinism (OCA) and to provide genetic counseling and prenatal diagnosis.Methods To determine the genotypes and mutational sites through PCR and sequencing for all exons and exon-intron junctions of 4OCA genes in the proband and the P gene of her parents.Prenatal genotyping of the fetus was carried out using amniocentesis sample.Results The patient was diagnosed with OCA2 based on a genotype of c.1327G>A/c.2360C>T.Her father was heterozygous for c.2360C>T,whilst her mother has none of the two mutations.c.1327G>A is therefore a maternal de novo mutation.Neither of the mutations was found in the fetus.Conclusion A maternally inherited de novo mutation c.1327G>A has been identified in the patient.In order to detect de novo mutations,full sequence analysis is necessary.

  16. 眼皮肤白化病Ⅱ型产前基因诊断二例%Prenatal genetic diagnosis for two Chinese families affected with oculocutaneous albinism type Ⅱ

    Institute of Scientific and Technical Information of China (English)

    胡浩; 王华; 贾政军; 谢琼

    2014-01-01

    目的 对生育过眼皮肤白化病(oculocutaneous albinism,OCA)患儿的2个家系进行基因诊断分型,并在此基础上提供产前基因诊断.方法 采用PCR扩增先证者OCA1型疾病相关TYR基因的所有5个编码外显子和OCA2型疾病相关P基因的所有23个编码外显子,PCR产物直接测序,在确定致病突变的基础上对家系成员进行综合分析.结果 两例OCA先证者均未检测到TYR基因的致病突变,但均携带P基因的复合杂合突变,因此确定2例均为OCA2型患者.P基因共检测到4种突变:c.406C>T、c.535A>G、c.808-2A>G和c.2180T>C,其中c.535A>G和c.808-2A>G为新突变.2个家系的第1次产前诊断均提示胎儿基因型与先证者一致,家属选择终止妊娠.第2次产前基因诊断,2个家系中1例胎儿为P基因c.808-2A>G携带者,另1例为P基因野生型携带者.两名孕妇均继续妊娠至足月分娩,新生儿随访均正常.结论 应用基因检测可为眼皮肤白化病患者提供确切的临床分型,并在此基础上提供有效的产前基因诊断.%Objective To perform genotyping analysis and subsequent prenatal genetic diagnosis for two families affected with oculocutaneous albinism (OCA).Methods Direct sequencing of TYR and P genes was performed in two albino probands.Family members were screened for corresponding mutant alleles.Prenatal genetic diagnoses were performed at early pregnancy by chorionic villus sampling (CVS) at mid-pregnancy through amniocentesis.Results No mutations were detected in the TYR gene in either probands,whereas 4 heterozygous mutations of the P gene were found,namely c.406C>T,c.535A>G,c.808-2A>G and c.2180T>C,among which c.535A>G and c.808-2A>G were novel.In the first round prenatal genetic testing,both fetuses were found to have the same genotypes as the probands.Both families had decided to terminate the pregnancy after genetic counseling.In the second round testing,neither of the fetuses was found to be

  17. Mutation screening of the TYR and P gene in three patients with oculocutaneous albinism%三例眼皮肤白化病患者TYR和P基因的突变分析

    Institute of Scientific and Technical Information of China (English)

    戴灿; 李汶; 高伯笛; 李麓芸; 卢光绣

    2008-01-01

    Objeeave To identify the mutatins of the tyrosinase gene (TYR)and P gene in patients with oculoeutaneous albinism(OCA).Methods Polymerase chain reaction(PCIt)and denaturing high-perfomance liquid chromatography(DHPLC)were applied to detect the mutations in all exons of TYR gene and P gene.Then DNA sequeneing and restriction endonuclease analysis were used to confirm the mutations detected by DHPLC.Novel mutations were screened in 100 unrelated persons with normal phenotypes to exclude the possibility of polmyorphism.Results Two mutations were detected in the P gene of the three patients and none in TYR gene.Heterozygom mutation of T450M in exon 13 of the P gene was detected in patient 1.Patient 2 had a heterozygom mutation of T450M in exon 13 and a heterozygous mutation of G775R in exon 123 of the P gene.Patient 3 had a hetengousimport of G775R as well.Reslrietion endonuclease analysis of the P gene exon 13 showed that the Oli I site had pollly disappeared resulting from the heterozygom mutation T450M in patient 1 and patient 2,but not in 100 unrelated individuals.The heterozyous mutalion T450M is a novel mutation.Conclusion Cene diagnosis of OCA can be carried out effectively by c0mbining PCR,DHPLC,DNA sequencing and restrction endonuclease analysis.%目的 分析眼皮肤白化病(oculocutaneom albinism,OCA)患者酪氨酸酶(tyrosinase,TYR)基因和P基因的基因突变.方法 应用聚合酶链反应(polymerase chain reaction ,PCR)和变性高效液相色谱(de-naturing high-perfomanee liquia chromatography,DHPLC)技术对3例患者的眼皮肤白化病Ⅰ、Ⅱ型相关基因(TYR和P基因)的外显子进行突变检测,并对DHPLC检出的突变样本进行测序和限制性内切酶分析以验证该突变.针对未见报道的新突变,筛查100名表型正常的无关个体,排除多态的可能.结果 在3例患者中检测出两种P基因突变,未检测到TYR基因突变.其中,患者1的P基因第13外显子发生杂合突变T450M;患者2的P基因

  18. Early prenatal genetic diagnosis of oculocutaneous albinism type Ⅰ in seven families%七个眼皮肤白化病Ⅰ型家系的早期产前诊断

    Institute of Scientific and Technical Information of China (English)

    吴庆华; 史惠蓉; 刘宁; 鲁宁; 江淼; 赵振华; 孔祥东

    2012-01-01

    目的 探讨酪氨酸酶基因( tyrosinase,TYR)检测用于眼皮肤白化病Ⅰ型(oculocutaneous albinism type Ⅰ,OCA1)产前诊断的可行性.方法 采用聚合酶链反应扩增与DNA直接测序技术对7个OCA1家系的先证者及其父母的TYR基因进行序列分析.在确定先证者或携带者的基因型后,对高危胎儿取胎盘绒毛进行产前诊断.结果 7个家系中均检出了TYR基因的复合杂合突变,包括R76Q、c.232insGGG、R116X、R278X、R299H、c.929-930insC、IVS2-11delTT、Q399X和W400L共9种,其中R76Q和Q399X为尚未报道的突变.对7个家庭的胎儿行产前诊断,1名胎儿携带与先证者相同的双突变,行引产术;2名胎儿未携带TYR基因突变,4名为突变携带者.6个家庭均选择继续妊娠,随访至出生后新生儿表型均无异常.结论 应用基因测序技术对TYR基因行突变分析可有效减少生育OCA1患儿的风险.%Objective To evaluate the feasibility of genetic analysis of tyrosinase gene (TYR) in oculocutaneous albinism type Ⅰ (OCA1).Mutation analysis and prenatal genetic diagnosis of TYR gene for seven pedigrees with OCA1 were performed.Methods PCR was used to amplify the exons,exon-intron boundaries and promoter of the TYR gene in the probands and/or their parents.The products were further analyzed by direct sequencing.Prenatal genetic diagnoses were performed by chorionic villus sampling after the genotypes of the probands or their parents were determined.Results Compound heterozygous mutations were detected in all pedigrees,which included 9 mutations,namely R76Q,c.232insGGG,R116X,R278X,R299H,c.929-930insC,IVS2-11delTT,Q399X and W400L. Among these,R76Q and Q399X were identified for the first time.Seven families have requested prenatal diagnoses.One fetus was detected with double mutations of TYR gene,and the parents have decided to have therapeutic abortion.Two fetuses did not carry the mutations identified in the probands,whilst other four fetuses were carriers of

  19. Classification of Oculocutaneous Albinism and Identification of a Novel TYR Gene Mutation%眼皮肤白化病分型及TYR基因新突变的鉴定

    Institute of Scientific and Technical Information of China (English)

    李卓; 魏海云; 李洪义

    2009-01-01

    目的 了解我国眼皮肤白化病(oculocutaneous albinism,OCA)的分型和相关基因突变类型,探讨新突变可能的分子致病机制.方法 应用PCR方法扩增TYR基因,经DNA序列测定检出突变,采用错配引物PCR进行新突变的群体筛查,结合生物信息学方法探讨一种新突变的致病性和可能的分子致病机制.结果 10名患者中有5人存在2个突变TYR等位基因,共计8种突变类型,其中c.71G>A(C24Y)和c.841G>T (E281X)是OCA1A致病性新突变;C24极可能参与二硫键形成,C24Y将导致酪氨酸酶肽链内此二硫键消失,进而引起蛋白空间构象变化和功能异常而致病.结论 从基因水平初步了解了我国OCA1所占的比例,探讨了TYR基因C24Y的致病性并初步阐明了其致病的分子机制.本结果丰富了人类TYR基因突变类型,为我国OCA分型诊断、产前基因诊断和遗传咨询等积累了有价值的数据资料.

  20. Um caso de albinismo em tachã (Chauna Torquata, Oken (Aves, Anseniformes ocorrido na estação ecológica do Taím, Rio Grande do Sul, Brasil A case of albinism in Southern screamer (Chauna Torquata, Oken (Aves, Anseniformes occurred at the Ecological Station of Taim. Rio Grande do Sul, Brazil

    Directory of Open Access Journals (Sweden)

    Luiz Alberto Veiga

    1995-09-01

    Full Text Available It is described herein a case study of albinism in Chauna torquata Oken, 1816 (Southern screamer occurred at the Ecological Station of Taim, Rio Grande do Sul. Brazil. Screamers are birds of marshes, wet grasslands and forest lagoons. The bill is short and curved, the head is small and slender and the neek rather short. The strong wings are armed with two large, sharp spurs on their forward edge. The feet and legs are fleshy, the lower half of the tibia is bare, and the three long front toes show just a trace of webbing between them, They are often seen walking in pairs on the floating masses of vegetation or in large groups for feeding. The albino specimen described herein was observed feeding in the midst of a group of almost fifty birds. Their plumage was white but their legs and bill were normally red pigmented, and also presented a light grey ring on its neek. It did not represent a case of total albinism, in which pigment should be totally absent.

  1. 眼白化病Ⅰ型家系致病基因GPR143新突变%A novel GPR143 mutation in a Chinese family with X-linked ocular albinism

    Institute of Scientific and Technical Information of China (English)

    金怡轩; 刘斐

    2014-01-01

    Objective There are few genetic studies of Asian patients with X-linked ocular albinism type 1 (OA1). In the present study, the mutation analysis of G protein-coupled receptor 143 gene(GPR143)was assessed in Chinese patients with OA1. Methods 5ml peripheral blood samples were separately taken from the proband and his mother. Genomic DNA was prepared from venous leukocytes. The coding regions of the GPR143 gene were amplified by polymerase chain reaction and subsequently analyzed by direct sequencing. The variations detected were further e-valuated in available family members as well as controls. Results The PCR products of all 9 exons were detected in the proband and the normal controls. There were no PCR products of exon 5 in the two brothers, while the other eight ex-ons PCR products were normal. This result indicates a large intragenic deletion encompassing exon 5 in GPR143 gene in the two OA1 brothers. Conclusions This study found a large intragenic deletion encompassing exon 5 in GPR143 gene and expands the mutation spectrum of GPR143.%目的:对收集的一例眼白化病1型家系的致病基因GPR143进行突变检测。方法抽取先证者两兄弟及其母亲的5ml外周血,酚-氯仿法抽提基因组DNA,通过聚合酶链反应(polymerase chain reaction,PCR)扩增眼白化病1型致病基因GPR143外显子及其相邻的内含子,并进行直接测序。结果 PCR结果显示两眼白化病1型的兄弟第五外显子均无产物,而其他8个外显子均有产物,相同反应条件下其母亲及正常对照组所有外显子都可扩增出产物,证明该眼白化病患者的致病基因GPR143的第五外显子缺如。结论本研究在眼白化病1型的患者的致病基因中发现了整个外显子的缺失突变,扩展了OA1致病基因的突变频谱。

  2. Study on a cDNA sequence of cold inducible zinc finger protein in albinism tea cultivar "Xiaoxueya"%茶树品种“小雪芽”冷诱导锌指蛋白基因cDNA研究

    Institute of Scientific and Technical Information of China (English)

    王开荣; 李娜娜; 陆建良; 郑新强; 梁月荣; 吴颖; 李明

    2012-01-01

    A cDNA sequence of cold inducible zinc finger protein in leaf of albinism tea cultivar " Xiaoxueya" was investigated. The results shows that the cDNA sequence had 698 bp in length, with 83% and 82% identity to zinc finger protein mRNA of Glycine max and Ricinus communis respectively. It had an opening reading frame encoding 230 amino acids. Compared to that of common tea cuhivar " Fudingdabai" , there were three loci of nucleotide deletion and one locus of nucleotide substitution. Its deduced amino acid sequence had 99% identity to that of cuhivar " Fudingdabai" , among which there were 3 loci of amino acid substitution. The expression of cold inducible zinc finger protein in " Xiaoxueya" ,sas significantly lower than in " Fudingdabai". It is considered that the mutation in gene sequence resulted in the sensitivity of cultivar "Xiaoxueya" to low temperature through low expression and mutation of the cold inducible zinc finger protein.%分析了低温诱导型新梢白化茶树品种“小雪芽”叶片低温诱导锌指蛋白基因cDNA序列。该序列长度为698bp,与大豆锌指蛋白mRNA同源性为83%,与蓖麻锌指蛋白mRNA同源性为82%;具有可编码230个氨基酸的开放阅读框。与“福鼎大白茶”冷诱导锌指蛋白eDNA序列相比,该eDNA序列在50—51位上核苷酸AT缺失,第143位的A被置换为G,第654位T缺失。其翻译的蛋白质氨基酸序列与“福鼎大白茶”同源性达到99%,但有3个位点的氨基酸变异。该基因表达丰度明显低于“福鼎大白茶”。研究认为,基因结构差异,引起表达强度和蛋白质氨基酸序列的差异,可能是引起“小雪芽”品种对低温敏感的重要因素。

  3. Effect of surgery on the treatment of nystagmus with oculocutaneous albinism%眼皮肤白化病患儿眼球震颤的手术疗效

    Institute of Scientific and Technical Information of China (English)

    王媛; 吴倩; 白大勇; 施维; 胡曼; 李莉

    2016-01-01

    目的 探讨手术治疗眼皮肤白化病患儿眼球震颤的效果.方法 回顾性系列病例研究.收集自2012年5月至2014年10月间在北京儿童医院确诊为眼皮肤白化病合并眼球震颤9例患儿临床资料,年龄为4~10岁,随访时间为6~24个月,根据患儿不同临床表现采取个体化手术方式,分析手术前后双眼最佳矫正视力(BCVA)变化,使用眼震仪测量手术前后眼球震颤的频率、振幅及强度的变化.对手术前后logMAR视力、眼震频率、振幅及强度进行配对£检验.结果 术前平均BCVA(logMAR)为1.1±0.1,随访终末为1.00.1,随访终末视力较术前视力有所提高,差异有统计学意义(t=5.965,P<0.05).术前眼震频率为(3.3±0.5)Hz,随访终末为(2.0±0.3)Hz,随访终末眼震频率小于术前,差异有统计学意义(t=6.377,P<0.05).术前眼震振幅为(20.9±4.1)度,随访终末为(18.5±4.6)度,差异无统计学意义(t=1.949,P>0.05).术前眼震强度为(69.2±18.5)Hz×度,随访终末为(37.5±9.8)Hz×度,随访终末眼震强度小于术前,差异有统计学意义(t=5.622,P<0.05).结论 个体化的眼球震颤手术可减轻眼皮肤白化病患儿眼震的频率及强度,从而在一定程度上提高视力.%Objective To evaluate the efficacy of surgery in the treatment of nystagmus with oculocutaneous albinism (OCA).Methods This was a retrospective case series study.Nine nystagmus patients with oculocutaneous albinism who were diagnosed between May 2012 and October 2014 in Beijing Children's Hospital were enrolled in this study.The age was 4 to 10 years and followed up 6 to 24 months.Patients underwent different types of surgery based on the manifestations of their condition.Best corrected visual acuity (logMAR) and nystagmus waveform were analyzed before and after the surgery.Results Binocular visual acuity increased from 1.1±0.1 preoperatively to 1.0±0.1 postoperatively and the difference was significant (t=5.965, P<0.05).Patients had

  4. Study of tyrosinase gene mutation in oculocutaneous albinism type 1 patients%眼皮肤白化病患者酪氨酸酶基因突变的研究

    Institute of Scientific and Technical Information of China (English)

    郑辉; 黄志刚; 闻人庆; 李洪义

    2011-01-01

    目的:对临床诊断为眼皮肤白化病(OCA)患者的酪氨酸酶(TYR)基因进行突变筛查,了解我国大陆OCA患者TYR基因突变类型,探讨基因突变对人TYR蛋白结构和功能的影响.方法:应用PCR技术,扩增患者及其父母的TYR基因外显子、外显子-内含子交界区及启动子区;以DNA序列测定技术,进行突变筛查与鉴定;利用生物信息学方法,对突变引起蛋白结构和功能的改变进行预测与分析.结果:在15名患者的30个TYR等位基因内,查明11种突变;其中错义突变5种(W400L、R299H、E294K、R77Q和K142M),无义突变3种(R116X、R278X和G295X),插入突变2种(929insC和232insGGG),剪切位点突变1种(IVS1-3 C > G);对4个突变W400L、R299H、929insC、232insGGG的生物信息学分析显示,突变的致病性与蛋白结构和功能的改变相关.结论:W400L占本研究所检出全部OCA1突变等位基因的30.0%(9/30),可能为中国大陆人群中较常见的TYR基因突变类型;应用生物信息学分析方法对TYR基因突变的致病性做出一些合理可能的解释是可行的.%Objective: To explore the patients' genotypes and the mutation spectrum of Tyiosinase(TYR) gene and the effects on protein structure and function in oculocutaneous albinism type 1(OCA1). Methods: The polymerase chain reaction(PCR) and sequencing techniques were applied to amplify and analyze the regions of exon, exonintron and promoter of TYR gene of 15 0CA1 probands and some of their parents. The protein structure and function were forecasted and analyzed by bioinformatics software. Results: Sequencing result showed 11 kinds of mutations, including 5 missense mutau'ons(W400L, R299H, E294K, R77Q and K142M), 3 nonsense mutations(R116X, R278X and C295X), 2 insertion mutation(929insC and 232insCGG) and 1 splice site mutation( IVS1-3C > C). The nosogenesis was related to the change of protein structure and function in four pathological mutations. Conclusion: It seemes that W400L is the

  5. Preliminary application of Next-Generation Sequencing technology in the genetic diagnosis for a chinese family affected with oculocutaneous albinism type Ⅰ%二代测序平台(NGS)在眼皮肤白化病Ⅰ型诊断应用一例

    Institute of Scientific and Technical Information of China (English)

    汪保江; 林圣; 郑开封; 段永恒; 宋慧; 张玲华; 谷学英; 曾序着; 洪文旭

    2016-01-01

    目的 借助Ion Torrent PGMTM测序平台对1例眼皮肤白化病(oculocutaneous albinism,OCA)患者的家系进行基因诊断分型.方法 采用PCR扩增的方法对OCA常见的四个致病基因TYR、P、TYRP1和SLC45A2进行全长扩增(包括内含子和外显子),PCR产物二代测序,在确定致病突变的基础上对家系成员进行综合分析.结果 先证者携带TYR基因的双重杂合突变:c.929insC和c.1199G>T,尽管先证者在P和SLC45A2基因上也发现了纯合突变,但是相应纯合突变在父母基因组中也被发现,而父母均未有临床症状表现,因此确定先证者为OCA1型患者.结论 我们在一个白化病核心家系鉴定了1例由TYR基因双重杂合子突变引起的OCA1型白化病,应用二代测序方法可高效准确地为具有高遗传异质性的遗传病开展全面的基因筛查工作.

  6. 眼皮肤白化病近亲婚配一家系的MATP基因致病性新突变%Identification of a novel pathogenic mutation in MATP gene with oculocutaneous albinism type Ⅳ from a consanguineous marriage family

    Institute of Scientific and Technical Information of China (English)

    徐蓓; 逄婷; 姚翠群; 张丽芸; 郑辉; 蒋玮莹; 李洪义

    2012-01-01

    Objective To clarify the pathogencity-related genes and its mutations in an oculocutaneous albinism (OCA) patient from a consanguineous marriage family. Methods Polymerase chain reaction (PCR) and automatic DNA sequencing methods,chromosome walking by PCR amplification techniques (PCR-Walking),multiplex PCR in a single PCR tube with 3 primers bridging the breakpoint (Gap-PCR) and bioinformatic analysis were employed for screening the mutations and identifying the novel mutation in the patient and his family.Results A pathogenic deletion of 6365 bp was found in MATP gene with a range of c.562-1118 ( ± 2 ) to c.885 + 4923 ( ± 2).The patient was homozygous for deletion mutation.Conclusion A large deletion mutation was first detected and identified in OCA4.%目的 对1例近亲婚配所致的眼皮肤白化病(OCA)患者相关基因进行研究,确定致病基因并阐明突变类型.方法 应用聚合酶链反应、DNA序列测定、基于PCR的染色体步移技术(PCR-Walking)、横跨越断裂点的单管多重PCR(Gap-PCR)和生物信息学分析方法,对患者家系进行突变筛查和新突变鉴定.结果 患者膜相关转运蛋白(MATP)基因存在包含整个外显子3在内的6365 bp大片段缺失,缺失范围为c.562-1118(±2)_c.885+ 4923(±2).该突变为OCA4型致病性突变,患者基因型为该缺失突变纯合子.结论 首次发现并确定了一种OCA4型大片段缺失突变.

  7. 应用突变直接检测联合SNPs家系连锁分析进行眼皮肤白化病Ⅱ型的产前基因诊断%Prenatal genetic diagnosis of oculocutaneous albinism type Ⅱ through mutation detection combined with SNPs linkage analysis

    Institute of Scientific and Technical Information of China (English)

    陈潇菲; 魏海云; 周祎; 郑辉; 方群; 蒋玮莹; 李洪义

    2014-01-01

    目的 为仅检出1个致病等位基因的两个眼皮肤白化病(oculocutaneous albinism,OCA)的核心家系进行分型并提供产前基因诊断.方法 应用DNA测序法检测先证者的TYR、P、TYRP1和SLC45A2 4个OCA基因,结合临床表型特点判定其OCA类型,在此基础上运用突变位点检测结合致病基因内单核苷酸多态位点家系连锁分析法进行产前基因诊断.结果 家系1先证者仅在P基因检出c.1255C>T杂合性致病突变,该突变来自母亲,结合临床表型特征综合分析判定先证者为OCA2患者.羊水筛查未见致病突变,家系连锁分析结果提示胎儿为OCA2携带者,出生时表型正常;家系2先证者仅在P基因检出c.1920_1949 del30bp和ins AACA杂合性致病突变,该突变来自父亲,结合临床表型特征综合分析判定先证者为OCA2患者.羊水筛查检出c.1920_1949 del30bp和ins AACA杂合突变,家系连锁分析结果提示胎儿为OCA2携带者,出生时表型正常.结论 首次成功应用突变直接检测联合单核苷酸多态位点家系连锁分析法完成只检出1个致病突变的家系的OCA产前诊断.%Objective To provide prenatal diagnosis for two families affected with oculocutaneous albinism (OCA),in both of which only 1 pathogenic allele has been identified.Methods To determine the clinical classification of OCA through DNA sequencing for TYR,P,TYRP1 and SLC45A2 genes in combination with phenotype analysis.Prenatal diagnosis was carried out by direct sequencing and intragenic SNPs family-based linkage analysis.Results In the first family,only 1 heterozygous mutation c.1255C>T was found in the proband,which was inherited from her mother.Together with its clinical phenotype,the proband was suspected to have OCA2.Screening of amniotic fluid,however,has found no mutation.With family-based linkage analysis,the fetus was deemed to be an OCA2 carrier.In the second family,again only one heterozygous mutation c.1920_1949 del30bp and ins AACA was

  8. A new method for oculocutaneous albinism typing and analysis of two novel mutations in TYR gene%眼皮肤白化病研究的新途径及TYR基因2种新突变的分析

    Institute of Scientific and Technical Information of China (English)

    廖沛熙; 李卓; 逄婷; 蒋玮莹; 李洪义

    2011-01-01

    AIM : To establish a new approach to oculocutaneous albinism( OCA ) classification using the DNA extracted from hair bulb and identify two novel pathogenic mutations in TYR gene.METHODS : The morphological changes of hair bulb tissues were observed under optical microscope.The target DNA fragments of axons, promoter and exon intron adjacent were amplified by PCR, followed by direct DNA sequencing.The novel mutations were further analyzed using mutant allele frequency method.RESULTS : The 3 probands were all tyrosinase - related OCA( OCA1 ).The proband in family 1 showed as a compound heterozygote with mutants of c.715C > T ( p.R239W ) and c.929insC ( p.P3IOPfsX7 ).The proband in family 2 showed as a homozygote with c.896G > A ( p.R299H ).The prohand in family 3 was a compound heterozygote with mutants of c.1362 +3A > T and c.650G > C ( p.R217P ).The mutations of c.1362 +3A > T and c.650G > C ( p.R217P ) were novel.The result of mutant allele frequency indicated that the novel mutations were most likely pathological mutations.CONCLUSION: We successfully establish a feasible approach to OCA classification using the DNA extracted from hair bulb , and identify two novel mutations.%目的:探讨自眼皮肤白化病(OCA)患者毛发提取DNA对OCA分型研究的可行性及TYR基因2种新突变的致病性.方法:应用毛发压片镜检,PCR扩增毛发DNA中OCA相关基因各外显子、外显子-内含子交界区及启动子区,直接以序列测定技术分析患者基因突变,明确患者的基因型.对于发现的新突变,采用突变等位基因频率等方法对其进行深入研究.结果:3个家系的先证者均为1型OCA.家系1的先证者为c.715C>T (p.R239W)和c.929insC (p.P310PfsX7)突变的复合杂合子;家系2的先证者为c.896G>A (p.R299H)的纯合子;家系3的先证者为c.1362+3A>T和c.650G>C (p.R217P)突变的复合杂合子.其中,c.1362+3A>T和c.650G>C (p.R217P)突变为至今尚未报道的新突变,通过对

  9. 眼皮肤白化病Ⅰ型基因突变研究在产前诊断中的应用及一种致病性TYR基因新突变%Application of the mutation analysis for oculocutaneous albinism type Ⅰ in the prenatal diagnosis and a novel pathogenic mutation of TYR gene

    Institute of Scientific and Technical Information of China (English)

    苗春越; 闻人庆; 郑辉; 李洪义

    2011-01-01

    Aim: Mutation analysis and prenatal diagnosis for the mutation of tyrosinase(TYR) gene in a family with oculocutaneous albinism type I ( 0CA1). Methods: Polymerase chain reaction ( PCR) technique was applied to amplify the regions of exon, exon-intron and promoter of TYR gene, while het-eroduplex analysis (HA) , denaturing high performance liquid chromatography (DHPLC) technique and DNA sequencing technology were used to analyze gene mutation sites of the proband and her parents. The pathogenic mutations were identified, and the fetus genotypes were obtained by detecting TYR gene corresponding sites of the DNA sequence. Results: The patient of this family was found to be a compound het-erozygote with mutants c. 232_233insGGG and c. 841G>T. The parents of proband showed the same mutants c. 232_233insGGG and c. 841G>T. The nonsense mutation E281X was found to be pathogenic. However, the fetus got neither of the two mutations. The results obtained by HA and DHPLC methods were fully consistent with the DNA sequencing results. Conclusion: The proband's genotype was deter-mined, which was found to be a novel pathogenic mutation of TYR gene, c. 841G>T. The fetus did not inherit any pathogenic mutations.%目的:对1名生育过眼皮肤白化病(OCA)先证者母亲再次怀孕的家庭进行酪氨酸酶(TYR)基因突变研究和产前基因诊断.方法:应用聚合酶链反应(PCR)技术扩增TYR基因各外显子、外显子内含子交界区及启动子区,分别以异源双链分析法(HA)、变性高效液相层析(DHPLC)和DNA序列测定技术分析先证者及其父母的基因突变,明确突变的致病性后,检测胎儿TYR基因相应位点与基因型.结果:先证者的基因型为c.232_233insGGG/c.841G>T,其父母基因型分别为c.232_233insGGG和c.841G >T突变杂合子.E281X具有致病性.胎儿未获得父亲的c.232_233insGGG突变和母亲的c.841G >T突变.HA和DHPLC法所获得结果与测序结果完全一致.结论:确定了先证者

  10. The tyrosinase gene family and albinism in fish

    Institute of Scientific and Technical Information of China (English)

    WANG Jiaqing; HOU Lin; ZHANG Ruifeng; ZHAO Xintao; JIANG Lijuan; SUN Wenjing; AN Jialu; LI Xiaoyan

    2007-01-01

    Tyrosinase exists universally in organisms and is a characterstic enzyme of melanocytes.Tyrosinase family genes in vertebrates consist of 3 related members; tyrosinase (TYR, Tyr),tyrosinase-related protein-1 (TRP-1, Tyrpl), and tyrosinase-related protein-2 (TRP-2, Tyrp2, Dct). These proteins catalyze melanin biosynthesis in pigment cells and play important roles in determining vertebrate coloration. Transcription of the TYR and TRP genes is useful for studying neural crest and optic vesicle cell migration and differentiation during embryogenesis and important in pigment rescue in fish. In this paper, the structure of gene and protein molecular evolution, function and roles of the TYR family in fish were reviewed.

  11. Basosquamous carcinoma in an Indian patient with oculocutaneous albinism

    Directory of Open Access Journals (Sweden)

    Ranjan Nitin

    2009-01-01

    Full Text Available A middle-aged man with type IA OCA presented to us with a large ulcerated plaque of three year duration over the forehead. Histopathology showed basosquamous carcinoma in the form of distinct areas of basal and squamous differentiation. Metastasis workup was negative. Complete surgical excision, strict photoprotection and regular follow-up were advised. A timely recognition of this potentially aggressive neoplasm is the key to curative treatment.

  12. Diagnóstico laboratorial do albinismo oculocutâneo Laboratory diagnosis of oculocutaneous albinism

    OpenAIRE

    Luciane de Melo Rocha; Lilia Maria de Azevedo Moreira

    2007-01-01

    OBJETIVO: Avaliar os métodos laboratoriais dos diferentes tipos de albinismo oculocutâneo (OCA 1 e OCA 2) de forma descritiva e analisar sua eficiência. MATERIAL E MÉTODO: O teste do bulbo capilar é um método químico usado para distinguir as duas formas, no entanto recentemente teve sua eficácia como teste padrão contestada. O avanço da biologia molecular permite a análise das mutações que causam o distúrbio e a sua localização gênica. CONCLUSÃO: O teste do bulbo é seguro apenas para o diagnó...

  13. A form of albinism in cattle is caused by a tyrosinase frameshift mutation.

    Science.gov (United States)

    Schmutz, Sheila M; Berryere, Tom G; Ciobanu, Daniel C; Mileham, Alan J; Schmidtz, Barbara H; Fredholm, Merete

    2004-01-01

    We used PCR amplification of cDNA prepared from skin biopsies to determine the full-length protein-coding sequence of tyrosinase ( TYR) in cattle of several coat colors. An insertion of a cytosine was detected in an albino Braunvieh calf, which resulted in a frameshift which caused a premature stop codon at residue 316. This insertion was found in the homozygous state in this calf and the genomic DNA of two related albino calves. All six parents of these calves were heterozygous for this insertion. However, an albino Holstein calf did not have this insertion, nor was any other mutation detected in the partial TYR sequence obtained from the genomic DNA available. Diagnostic genotyping tests were developed to detect this mutation in Braunvieh cattle.

  14. Type I oculocutaneous albinism (OCA1) associated with a large deletion of the tyrosinase (TYR) gene

    Energy Technology Data Exchange (ETDEWEB)

    Spritz, R.A.; Wick, P.A.; Holmes, S.A.; Schnur, R.E. [Univ. of Wisconsin, Madison, WI (United States)]|[Children`s Hospital of Philadelphia, PA (United States)

    1994-09-01

    OCA1 is an autosomal recessive disorder in which the biosynthesis of melanin is reduced or absent in skin, hair, and eyes, due to deficient enzymatic activity of tyrosinase. TYR consists of 5 exons spanning over 65 kb at 11q14-q21. Analyses of TYR in >400 unrelated patients with OCA1 have identified more than 50 different point mutations; however, no large deletions have been detected. Here we report a large deletion of TYR in a Caucasian boy with OCA1B. Simultaneous SSCP/heteroduplex screening and DNA sequence analysis indicated that the patient was apparently homozygous for a previously described TYR mutation, adjacent to the 3` splice site of IVS2 (-7, t{r_arrow}a). To distinguish between possible gene deletion vs. maternal uniparental isodisomy, we characterized several chromosome 11 polymorphisms. Maternal uniparental isodisomy was excluded by the patient`s heterozygosity for alleles at D11S35 (11q21-122) and HBG2 (11p15.5). In addition, the patient failed to inherit paternal alleles at an MboI RFLP in exon 1 of TYR and at a TaqI RFLP in the promoter region of the gene. To detect a possible submicroscopic deletion, we performed quantitative Southern blot hybridization using a full length TYR cDNA. Compared with controls, both the patient and his father appeared deleted for two or three TYR-derived PstI fragments; the two TYRL-derived fragments appeared normal. These data indicate that the patient and his father have a partial TYR deletion, including at least exons 1, 2, and IVS2. Based on the organization of the gene, this deletion is at least 50 kb in size. The patient is thus hemizygous for the maternally-inherited mutation in IVS2, accounting for his OCA1B phenotype.

  15. ADVANCES ON THE STUDIES OF FISH ALBINISM%鱼类白化病的研究进展

    Institute of Scientific and Technical Information of China (English)

    黄冰; 郭华荣; 张士璀

    2003-01-01

    @@ 白化病是由于动物的眼睛和皮肤中的黑色素细胞缺乏或黑色素的生成发生障碍所导致的一种体色异常病.在各种脊椎动物,如哺乳动物、两栖类、鸟类和鱼类中都常有白化个体出现.由于白化个体通常会伴随着一系列病理学上的改变,如贫血、内耳功能缺陷、巨结肠、骨硬化症、小眼和神经系统疾病等 [1],又由于缺乏保护色,易被天敌捕食,因而白化个体在自然环境中的生存能力大大低于正常个体,这也是野生白化个体比较少见的主要原因.

  16. 福建省发现白化白腹山鵰%Albinic Aquila fasciata fasciata discovered in Fujian Province

    Institute of Scientific and Technical Information of China (English)

    唐庆圆; 唐兆和

    2004-01-01

    白腹山鵰(Aquila fasciata fasciata)属于隼形目鹰科,是国家重点珍稀二级保护鸟类之一,国内主要分布于福建、广东、广西,西至云南和贵州,国外见于欧洲南部、非洲北部、印度等地。2001年12月9日我们从闽侯县白沙镇一佗农民处获得此白化鹏类,据了解这只鵰是从电线杆上摔下致死的,

  17. 玉米弯孢叶斑病菌白化菌株初报%ALBINISM ISOLATES OF CURVULARIA LUNATA

    Institute of Scientific and Technical Information of China (English)

    鄢洪海; 陈捷; 夏淑春; 刘萍; 魏书芹; 高增贵

    2002-01-01

    @@ 在对采自辽宁省瓦房店、绥中等市县的玉米弯孢菌叶斑病标本分离时,发现一些分离物是白色菌落并产生弯月型的分生孢子,这种白色菌株占很大分离比例,最高地区达56%.

  18. 鱼类白化现象病因浅析%PRELIMINARY ANALYSE OF THE PATHOGENY OF ALBINISM IN FISH

    Institute of Scientific and Technical Information of China (English)

    王鑫; 郭恩棉; 苏振渝; 张丽; 付国庆

    2003-01-01

    @@ 鱼类的载色素细胞包括众所周知的、不发光的褐色素细胞、黑色素细胞,红色素细胞、黄色素细胞.而在动物王国最普遍的黑色素的沉着常出现异常现象,这包括色素沉着过度和白化现象.

  19. Disease: H00169 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H00169 Ocular albinism; Ocular albinism, type I (OA1); Waardenburg syndrome, type I...a, nystagmus, translucent irides, strabismus, hypermetropic refractive errors. Waardenburg syndrome type II

  20. Albinismus ve světě zvířat

    OpenAIRE

    NĚMCOVÁ, Klára

    2016-01-01

    The subject of this thesis was to prepare an overview of the information on albinism in animals, characterize its different types and origins. Albinism can be divided into full or partial. This depends on whether the affected individual is all white or whether only some body parts are affected. Another type of albinism is leucism. These animals have affected fur and feathers, but skin is pigmented normally. Albinism is a hereditary disease, but it can also arise during the life, for example, ...

  1. Morphological and molecular characterization of dietary-induced pseudo-albinism during post-embryonic development of Solea senegalensis (Kaup, 1858.

    Directory of Open Access Journals (Sweden)

    Maria J Darias

    Full Text Available The appearance of the pseudo-albino phenotype was investigated in developing Senegalese sole (Solea senegalensis, Kaup 1858 larvae at morphological and molecular levels. In order to induce the development of pseudo-albinos, Senegalese sole larvae were fed Artemia enriched with high levels of arachidonic acid (ARA. The development of their skin pigmentation was compared to that of a control group fed Artemia enriched with a reference commercial product. The relative amount of skin melanophores, xanthophores and iridophores revealed that larval pigmentation developed similarly in both groups. However, results from different relative proportions, allocation patterns, shapes and sizes of skin chromatophores revealed changes in the pigmentation pattern between ARA and control groups from 33 days post hatching onwards. The new populations of chromatophores that should appear at post-metamorphosis were not formed in the ARA group. Further, spatial patterns of distribution between the already present larval xanthophores and melanophores were suggestive of short-range interaction that seemed to be implicated in the degradation of these chromatophores, leading to the appearance of the pseudo-albino phenotype. The expression profile of several key pigmentation-related genes revealed that melanophore development was promoted in pseudo-albinos without a sufficient degree of terminal differentiation, thus preventing melanogenesis. Present results suggest the potential roles of asip1 and slc24a5 genes on the down-regulation of trp1 expression, leading to defects in melanin production. Moreover, gene expression data supports the involvement of pax3, mitf and asip1 genes in the developmental disruption of the new post-metamorphic populations of melanophores, xanthophores and iridophores.

  2. 一种新型眼皮肤白化病——OCA4%A New Form of Oculocutaneous Albinism, OCA4

    Institute of Scientific and Technical Information of China (English)

    李洪义; 段红蕾; 郑辉

    2006-01-01

    眼皮肤白化病(OCA)在遗传学上是一组由不同基因的突变导致的具有相同或相似临床症状的遗传病.根据涉及基因的不同,OCA进一步分为4型,即眼皮肤白化病Ⅰ~Ⅳ型(OCA1~OCA4).OCA4为近年新发现的一种眼皮肤白化病类型,首报病例是一名土尔其后裔.与小鼠uw基因同源的MATP基因突变导致OCA4表型的发生.MATP 基因定位于5p13.3,由7个外显子和6个内含子构成,MATP基因在转录水平上受黑素细胞特异性转录因子调控,编码由530个氨基酸残基构成的膜相关转运蛋白.迄今,至少已报道了18种MATP基因病理性突变和8种DNA多态性变异.

  3. Biogenesis and Intracellular Transport of Melanosome and Albinism%黑素小体发生及转运机制与白化病

    Institute of Scientific and Technical Information of China (English)

    孟舒; 郑辉; 李洪义

    2006-01-01

    黑素小体是合成和贮存黑色素的场所.黑素小体的发生、转运及黑色素的合成是一个复杂而精密的过程,包括黑素小体膜蛋白转运和正确定位、腔内pH值的调控、黑色素合成酶类发挥正常催化活性以及成熟的黑素小体沿微管微丝运输等环节.白化病各型致病基因所表达的异常蛋白 TYR、P、TRP-1、HPS1~3、CHS、MYO5A、Rab27a、MLPH,通过作用于上述一个或多个环节,影响黑素小体的发生、转运和黑色素合成,从而导致相应的临床表型.

  4. 牙鲆鱼白化病因的研究进展%Research developments on the Albinism of Paralichthys olivaceus

    Institute of Scientific and Technical Information of China (English)

    王伟; 侯林; 姚锋; 高岩; 吕红丽

    2004-01-01

    牙鲆鱼(Paralichthys olivaceus)在我国俗称比目鱼、偏口,属于鲽形目,鲽总科,鲆科,牙鲆属。该鱼肉细嫩、口感好、营养高,在我国是一种很受欢迎的经济鱼类。分布于干岛群岛至香港之间,我国的渤海、黄海、东海、日本沿海、朝鲜半岛西岸均有分布。牙鲆是冷水性、底栖、肉食性经济鱼类,也是重要的海水养殖鱼类。在国外,日本最早于50年代就开始进行牙鲆人

  5. Clinical observation of traditiona Vigor medicine for albinism%维吾尔医治疗白癜风临床观察

    Institute of Scientific and Technical Information of China (English)

    古再努尔·库尔班; 吐尔逊·吾甫尔; 阿米娜·卡斯木

    2008-01-01

    @@ 白癜风是体内的异常黏液质沉着在皮肤底部,破坏皮肤局部气质,阻碍皮肤的正常血液循环、代谢等生理功能,使营养成分不能输送到皮肤,黑色素细胞不能正常生长发育或完全受损,从而皮肤脱色导致的皮肤病.患病率约1%.已经成为危害人类健康的主要疾病之一.而且该病的发病率逐年增加.

  6. 眼皮肤白化病1型的遗传学机制的研究进展%Progress of the Genetics of Oculocutaneous Albinism

    Institute of Scientific and Technical Information of China (English)

    刘静; 张铭志

    2008-01-01

    眼皮肤白化病是由于黑色素合成相关基因突变导致眼、皮肤、毛发黑色素沉着减少或缺乏引起的一类常染色体隐形遗传疾病的总称.根据突变基因的不同,眼皮肤白化病可分为4种不同的类型,其中眼皮肤白化病1型是由于TYR基因突变导致酪氨酸酶功能低下或缺乏引起的眼皮肤白化病类型,国内外对此型的发病机制研究较全面,文章就眼皮肤白化病1型的遗传学机制研究进展做一综述.

  7. Morphological and molecular characterization of dietary-induced pseudo-albinism during post-embryonic development of Solea senegalensis (Kaup, 1858).

    Science.gov (United States)

    Darias, Maria J; Andree, Karl B; Boglino, Anaïs; Rotllant, Josep; Cerdá-Reverter, José Miguel; Estévez, Alicia; Gisbert, Enric

    2013-01-01

    The appearance of the pseudo-albino phenotype was investigated in developing Senegalese sole (Solea senegalensis, Kaup 1858) larvae at morphological and molecular levels. In order to induce the development of pseudo-albinos, Senegalese sole larvae were fed Artemia enriched with high levels of arachidonic acid (ARA). The development of their skin pigmentation was compared to that of a control group fed Artemia enriched with a reference commercial product. The relative amount of skin melanophores, xanthophores and iridophores revealed that larval pigmentation developed similarly in both groups. However, results from different relative proportions, allocation patterns, shapes and sizes of skin chromatophores revealed changes in the pigmentation pattern between ARA and control groups from 33 days post hatching onwards. The new populations of chromatophores that should appear at post-metamorphosis were not formed in the ARA group. Further, spatial patterns of distribution between the already present larval xanthophores and melanophores were suggestive of short-range interaction that seemed to be implicated in the degradation of these chromatophores, leading to the appearance of the pseudo-albino phenotype. The expression profile of several key pigmentation-related genes revealed that melanophore development was promoted in pseudo-albinos without a sufficient degree of terminal differentiation, thus preventing melanogenesis. Present results suggest the potential roles of asip1 and slc24a5 genes on the down-regulation of trp1 expression, leading to defects in melanin production. Moreover, gene expression data supports the involvement of pax3, mitf and asip1 genes in the developmental disruption of the new post-metamorphic populations of melanophores, xanthophores and iridophores.

  8. 眼白化病1型的遗传基础研究进展%Research Progress in Genetic Basis of Ocular Albinism Type Ⅰ

    Institute of Scientific and Technical Information of China (English)

    周琦; 余国春

    2013-01-01

    眼白化病是一组眼部着色减少的遗传性疾病,常伴随着视力下降、斜视、眼球震颤等症状.目前将眼白化病分为X连锁隐性遗传的眼白化病1型(OA1)和常染色体隐性遗传的常染色体隐性眼白化病型.OA1是最常见的眼白化病类型,源于GPR143(OA1)基因的突变,其产物OA1是一种G蛋白受体,介导细胞间的物质运输和信号转导,其功能障碍引起黑色素小体生长失控诱发病变.该文就OA1的临床表型、发生机制和遗传基础等的研究进展予以综述.

  9. Progress of research on albinism mechanisms of flatfish%鲆鲽类白化机理的研究进展

    Institute of Scientific and Technical Information of China (English)

    马爱军; 雷霁霖; 陈四清; 刘新富; 王印庚; 张秀梅; 陈大刚

    2003-01-01

    鲆鲽类体色白化,在苗种生产过程中常见.很多学者对其进行过研究,然而关于白化的机理仍然不清楚.本文就近年来国内外有关鲆鲽类白化机理的研究从营养、遗传、环境、生理等方面进行综述.

  10. 小麦花药培养中白苗的发生和调控措施%Albinism Occurrence and Synthetic Control Measure in Wheat Anther Culture

    Institute of Scientific and Technical Information of China (English)

    李景琦; 王成社; 邹淑芳

    2002-01-01

    本文综述了小麦花药培养中花粉植株白化现象的主要研究结果和新近进展,讨论了花粉白苗发生的机理,结合作者的实验结果,提出了控制小麦花粉白苗发生的综合措施.

  11. Albinism associated with squamous cell carcinoma on the back of the neck: a case report%白化病伴发颈后鳞癌1例

    Institute of Scientific and Technical Information of China (English)

    钟桂书; 黄忠奎; 熊霞

    2001-01-01

    报告1例白化病伴发颈后鳞癌.患者男,45岁,颈后硬结10年,斑块、溃疡7月.血常规、X光胸片及腹部B超无异常.组织病理检查示高分化鳞癌.治疗行颈后鳞癌全切术及局部淋巴结清除术.

  12. A case of Angelman syndrome combined with oculocutaneous albinism%Angelman综合征并眼皮肤白化病一例

    Institute of Scientific and Technical Information of China (English)

    李洪义; 郑辉

    2005-01-01

    患儿女,8岁,汉族。因皮肤白皙、头发金黄,走路晚且不稳,不会讲话,经常不停地笑和癫痫发作等来我室进行遗传咨询。患儿为第1胎第1产,足月顺产。出生体重3.32kg,除有皮肤白皙、头发金黄、虹膜呈浅灰色外,一般情况尚好。出生1个半月和7个半月时,先后两次进行苯丙酮尿症(PKU)筛查,结果均为(一)。7个半月时不会坐、不会爬、不会翻身,抬头欠稳。

  13. 眼皮肤白化病Ⅲ型研究进展%Advance in the Ressarch of Oculocutaneous Albinism Type Ⅲ

    Institute of Scientific and Technical Information of China (English)

    闻人庆; 郑辉; 李洪义

    2007-01-01

    眼皮肤白化病Ⅲ型(OCA3)由酪氨酸酶相关蛋白1基因(TYRPl)突变所致,该基因与酪氨酸酶基因(TYR)结构相似.有研究显示,TYRPl在黑色素的合成过程中发挥重要作用,但具体机制尚未完全明了.较早前已确定了TYRPl基因S166X和1104delA两种病理性突变,最近在巴基斯坦和德国先后发现3种TYRPl基因新突变R373X、R356E、L36X,但它们与OCA3的关系有待进一步确定.以前曾认为OCA3只发生在黑色人种,最近在巴基斯坦和德国发现的这两例极可能是OCA3的病例却为高加索人种,这可能会更新人们对OCA3表型与亚型的认识.

  14. 眼皮肤白化病的临床表现与危害%Clinical Manifestation and Hazard of Oculocutaneous Albinism

    Institute of Scientific and Technical Information of China (English)

    李洪义; 魏海云; 吴维青; 郑辉

    2006-01-01

    眼皮肤白化病是一组与黑色素生物合成有关的遗传性疾病,表现为眼、皮肤、毛发黑色素缺乏等.黑色素缺乏可引起眼的一系列异常表现,如严重的视力低下、畏光、眼球震颤等;患者皮肤极易被紫外线晒伤而患皮肤癌;由于其特殊的表型,白化病患者的心理发育也会受到一定程度的影响.本文重点介绍眼皮肤白化病的临床表现及危害.

  15. "They Think They Know What's Best for Me": An Interpretative Phenomenological Analysis of the Experience of Inclusion and Support in High School for Vision-Impaired Students with Albinism

    Science.gov (United States)

    Thurston, Mhairi

    2014-01-01

    The challenges of social inclusion and access to the curriculum facing students with visual impairment in schools are well documented. The refreshed UK Vision Strategy (2013) seeks to improve education for students with vision impairment. In order to do this, it is important to understand how students with visual impairment experience education.…

  16. GABA(A) Receptor Alpha5 Subunit as a Candidate Gene for Autism and Bipolar Disorder: A Proposed Endophenotype with Parent-of-Origin and Gain-of-Function Features, with or without Oculocutaneous Albinism

    Science.gov (United States)

    Delong, Robert

    2007-01-01

    Our earlier family history studies of individuals with autism found a high incidence of major affective disorder, especially bipolar disorder, and unusual talents or intellectual abilities among family members. We now describe a subgroup of such families, selected from a large clinical experience, illustrating specific features of major affective…

  17. The First Case of Familial Albinism Marmota himalayana from Qinghai Province%我国首例白化喜马拉雅旱獭家族的发现及其描述

    Institute of Scientific and Technical Information of China (English)

    陶元清; 汪元忠; 王虎; 郭庆

    2009-01-01

    喜马拉雅旱獭Marmota himalayana属啮齿目Rodentia松鼠科Sciuridae旱獭属Marmota,是大型地栖性啮齿动物,为青藏高原特有种。其正常体色为自鼻端经两眼眉问到两耳前方之间有似三角形的黑色毛区。眼黑色。嘴四周为黄白色、淡棕黄色或桔黄色,眼眶黑色,面部两颊到耳外侧基部呈黄褐色或淡棕黄色。耳壳呈淡棕黄色或深黄色。颈背和体背部同色,呈沙黄色、棕黄色或草黄色。毛基黑褐色,中段草黄色或浅黄色,毛尖黑色。背部至臀部黑色毛尖多显著,常形成不规则的黑色细斑纹。体侧黑色毛尖较少,故体侧较体背毛色稍浅。

  18. Effects of Different Color Containers on Albinism Rates and Survival Rates of Southern Flounder, Paralichthys lethostigma%容器颜色对漠斑牙鲆白化率和成活率的影响

    Institute of Scientific and Technical Information of China (English)

    李碧全; 陈明达; 游剑涛; 林祥日

    2007-01-01

    本文就培养容器的颜色对漠斑牙鲆稚鱼的白化率和生长率的影响进行初步研究.结果表明:用深蓝色和黑色等深色容器培养的稚鱼白化率显著低于白色和黄色等浅色容器(p<0.05),黑色、深蓝色、黄色和白色4个组别(N=100)的白化率分别为20.8%、14.4%、57.6%和86.6%;白色最高为86.6%,深蓝色最低为14.4%;而用不同颜色的容器培养漠斑牙鲆的稚幼鱼,对其成活率影响不大(p>0.05),黑色、深蓝色、黄色和白色4个组别的成活率分别为96.0%、90.0%、82.5%、93.0%;白化稚幼鱼的生长发育并无异常.

  19. 成年近交白化金黄仓鼠主要脏器及脏器系数测定%Organ coefficient of main organs of adult inbreeding albinic golden hamster

    Institute of Scientific and Technical Information of China (English)

    夏放; 朱丹; 张水田; 曾德明

    2000-01-01

    本文报告了成年近交白化金黄仓鼠8个主要脏器重量和脏器系数测定结果,还与封闭群金黄仓鼠主要脏器的测定值进行了比较.结果表明,雌、雄性白化金黄仓鼠的主要脏器重量,尤其是二者脾脏间差异极显著,白化金黄仓鼠肾脏的重量显著高于封闭群金黄仓鼠,特别是雌性间肾脏的重量差异更明显.

  20. 眼皮肤白化病Ⅳ型基因MATP的SNPs与皮肤颜色%SNPs in the gene MATP of oculocutaneous albinism type 4 and skin color

    Institute of Scientific and Technical Information of China (English)

    谭雪梅; 邦辉; 李洪义; 黄志刚

    2009-01-01

    皮肤颜色差异是人类生物学中最易见、区分不同人群的差异之一,这种差异来自自然的选择,有几个候选基因可以解释其中差异,其中眼皮肤白化病Ⅳ型基因MATP就是其中之一.眼皮肤白化病Ⅳ型基因MATP至今已发现有11种单核苷酸多态性(SNPs),这些SNPs中有些与皮肤颜色有显著相关,如p.Phe374Leu.

  1. 注射曲安奈德致局限性皮肤白化伴脂肪萎缩两例报告%Localized albinism with lipoatrophy caused by triamcinolone acetonide injection: a report of two cases

    Institute of Scientific and Technical Information of China (English)

    李庆玉; 胡希军

    2010-01-01

    @@ 1 临床资料 病例1:女,45岁,因右足背部腱鞘炎,予局部注射曲安奈德40 mg及2%盐酸利多卡因2 mL混合液,1个月后注射处发现2 cm×1.5 cm皮肤颜色变白,菲薄,透明,皮纹消失,经局部艾灸及口服复合维生素B、谷维素3周后,局部皮肤色素增加,持续治疗2个月,患部恢复正常.

  2. Albinism in Long-tailed Tit Aegithalos caudatus vinaceus in Xiaol ongmen Area of Beijing%北京小龙门林场发现一例白化银喉长尾山雀

    Institute of Scientific and Technical Information of China (English)

    梁伟; 郭冬生; 宋杰

    2000-01-01

    @@ 1998年6月13日,我们在北京小龙门林场进行鸟类环志时网捕到一例白化银喉长尾山雀(Ae githalos caudatus vinaceus).该网捕地位于林场南沟沟谷(海拔为1400m)的落叶阔叶林带,主要树种为胡桃楸(Juglans mandshurica)、辽东栎(Quercus liaotungensis )和柳(Salix spp.)等.同时网捕到4只银喉长尾山雀,其中1只为白化个体.此白化个体的鸣叫、飞行等行为与其它3只个体无异.根据我们的观察,这4只鸟应为同一家族群的个体.

  3. Characteristics of root growth,nutrient uptake and utilization in a wheat albinism ater reviving%小麦返白系返青后根系生长及养分吸收利用特性的研究

    Institute of Scientific and Technical Information of China (English)

    魏天儒; 李秧秧; 黄华

    2004-01-01

    采用管栽试验研究了返青后小麦返白系根系生长及养分吸收利用规律.结果表明,返白系返白期间光合速率低于正常小麦,完全复绿后光合速率表现出补偿效应,这种补偿效应可持续到灌浆初期.返青后地上部和根系生长、养分摄取量明显低于正常小麦,但产量与正常小麦无差异(P>0.05).返白系的同化效率高,养分利用效率高于正常小麦.磷和钾的代谢可能与返白系的返白有关.

  4. 鲆鲽鱼白化发生与脂肪酸代谢研究进展%Advances on the Studies of Flatfish Albinism and Metabolism of Fatty Acids

    Institute of Scientific and Technical Information of China (English)

    刘兴旺; 许丹

    2011-01-01

    在近年来国内外研究者发现脂肪酸代谢与鲆鲽鱼苗白化现象有较重要的相关关系,本文对这些研究进行了综述,以期为鲆鲽鱼育苗及开口饵料开发提供一定参考.

  5. Large-scale recombinant expression and purification of human tyrosinase suitable for structural studies

    NARCIS (Netherlands)

    Lai, Xuelei; Soler-Lopez, Montserrat; Wichers, Harry J.; Dijkstra, Bauke W.

    2016-01-01

    Human tyrosinase (TYR) is a glycoprotein that initiates the first two reactions in the melanin biosynthesis pathway. Mutations in its encoding gene cause Oculocutaneous Albinism type I (OCA1), the most severe form of albinism, which is a group of autosomal recessive disorders characterized by red

  6. Increasing the complexity

    DEFF Research Database (Denmark)

    Montoliu, Lluís; Grønskov, Karen; Wei, Ai-Hua;

    2014-01-01

    Albinism is a rare genetic condition globally characterized by a number of specific deficits in the visual system, resulting in poor vision, in association with a variable hypopigmentation phenotype. This lack or reduction in pigment might affect the eyes, skin, and hair (oculocutaneous albinism......, OCA), or only the eyes (ocular albinism, OA). In addition, there are several syndromic forms of albinism (e.g. Hermansky-Pudlak and Chediak-Higashi syndromes, HPS and CHS, respectively) in which the described hypopigmented and visual phenotypes coexist with more severe pathological alterations......6 and OCA7, respectively. This consensus review, involving all laboratories that have reported these new genes, aims to update and agree upon the current gene nomenclature and types of albinism, while providing additional insights from the function of these new genes in pigment cells....

  7. Genetics Home Reference: Chediak-Higashi syndrome

    Science.gov (United States)

    ... melanin, which is the substance that gives skin, hair, and eyes their color. People with Chediak-Higashi syndrome have oculocutaneous albinism because melanin is trapped within the giant melanosomes and is ...

  8. Disease and Evolution.

    Science.gov (United States)

    Wells, Calvin

    1978-01-01

    Discusses disease and genetic disorders as evolutionary mechanisms. Emphasizes the archeological evidence from past human populations and societies, mentioning albinism, scurvy, sleeping sickness, bone conditions, various host-parasite relationships, rickets, sickle-cell anemia, diabetes, and influenza. (CS)

  9. An observation of a partially albinistic zenaida macroura (Mourning Dove)

    Science.gov (United States)

    2011-01-01

    Abstract Three of the 4 forms of albinism that occur in avifauna have been detected in Zenaida macroura (Mourning Dove). Albinism is rare in this species, and the incidence rate of each age and sex cohort is not well known. Consequently, we examined the pigmentation of Mourning Doves encountered in the Coastal Plain of South Carolina, and classified the age and sex of all individuals. One adult male Mourning Dove had unusually light coloration of some feathers and the upper mandible. This pigmentation is consistent with partial albinism. This was the only individual out of 10,749 examined that appeared to be albinistic. This low incidence rate of albinism supports the conclusion that this condition is relatively rare in Mourning Doves (Mirarchi 1993).

  10. Skin Pigment

    Science.gov (United States)

    ... This Article Medical Dictionary Also of Interest (Quiz) Vitiligo (Video) Hives Additional Content Medical News Overview of ... Version Pigment Disorders Overview of Skin Pigment Albinism Vitiligo Hyperpigmentation Melasma Melanin is the brown pigment that ...

  11. Congenital visual pathway abnormalities : A window onto cortical stability and plasticity

    NARCIS (Netherlands)

    Hoffmann, Michael B.; Dumoulin, Serge O.

    2015-01-01

    Sensory systems project information in a highly organized manner to the brain, where it is preserved in maps of the sensory structures. These sensory projections are altered in congenital abnormalities, such as anophthalmia, albinism, achiasma, and hemihydranencephaly. Consequently, these abnormalit

  12. Disease: H01187 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H01187 Tietz syndrome; Albinism-deafness syndrome Tietz syndrome is an autosomal do...minant syndrome of hypopigmentation and deafness. A missense mutation has been found in the basic region of ...20 (2010) PMID:10851256 (description, gene) Smith SD, Kelley PM, Kenyon JB, Hoover D Tietz syndrome (hypopigmentation/deafness... Amiel J, Watkin PM, Tassabehji M, Read AP, Winter RM Mutation of the MITF gene in albinism-deafness

  13. Ostracism of an Albino Individual by a Group of Pigmented Catfish

    OpenAIRE

    Ondřej Slavík; Pavel Horký; Matúš Maciak

    2015-01-01

    Physiological and behavioural constraints hinder albino individuals. Albino animals are rare in the wild; this trait is associated with easy detection by predators, non-native or damaged environments, and exclusively aphotic environments in total darkness. The social aspect of albinism is reported only for human beings, and the effect is distinguishable in time and space when social benefits, are used to a limited the extent. Thus far, the social consequences of albinism for animals remain un...

  14. The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild

    OpenAIRE

    Prado-Martinez, Javier; Hernando-Herraez, Irene; Lorente-Galdos, Belen; Dabad, Marc; Ramirez, Oscar; Baeza-Delgado, Carlos; Morcillo-Suarez, Carlos; Alkan, Can; Hormozdiari, Fereydoun; Raineri, Emanuele; Estellé, Jordi; Fernandez-Callejo, Marcos; Valles, Mònica; Ritscher, Lars; Schöneberg, Torsten

    2013-01-01

    Background The only known albino gorilla, named Snowflake, was a male wild born individual from Equatorial Guinea who lived at the Barcelona Zoo for almost 40 years. He was diagnosed with non-syndromic oculocutaneous albinism, i.e. white hair, light eyes, pink skin, photophobia and reduced visual acuity. Despite previous efforts to explain the genetic cause, this is still unknown. Here, we study the genetic cause of his albinism and making use of whole genome sequencing data we find a higher ...

  15. 古典派经典人像作品巴黎展出

    Institute of Scientific and Technical Information of China (English)

    2013-01-01

    古典派的代表人物,Laure Albin Guillot的作品展正在法国巴黎国家影像美术馆(Jeu de Paume)举行,并将持续到5月12日。关于Laure Albin Guillot的摄影,其中一位负责修复其照片的专员——Michal Houlette评价说,

  16. 饵料系列对香鱼(Plecoglossus altivelis Temminck et Schlegel)人工育苗成活率、畸形率和白化率的影响%Effect of Bait Series on the Rates of Survival, Abnormal and Albinism for Artificial Breeding of Ayu(Plecoglossus altivelis)

    Institute of Scientific and Technical Information of China (English)

    刘招坤

    2008-01-01

    通过同一饵料系列(轮虫、卤虫无节幼体、桡足类、颗粒配合饲料)中不同的轮虫投喂时间,桡足类、颗粒配合饲料的比例,比较研究香鱼人工育苗的成活率、畸形率、白化率等育苗效果,以完善香鱼全人工批量育苗工艺.试验表明,在香鱼人工育苗仔稚鱼培育早期延长轮虫的投喂时间到15日龄可提高育苗的成活率及苗种规格;增加桡足类投喂量、减少颗粒配合饲料的投喂或采用研制全价的颗粒配合饲料有助于降低苗种的白化率;苗种的畸形与卵质有直接的关系,但同时与饵料、水质条件等因素有关.

  17. The Frequency of Albinism Gene in the Andrias davidianus Population in the Giant Salamander Hole in Xingwen County, Sichuan Province%四川省兴文县大鲵洞的大鲵种群中白化基因的频率

    Institute of Scientific and Technical Information of China (English)

    王身立

    2006-01-01

    四川省兴文县的大坝镇(离兴文县30km左右)与云南省毗邻,大坝镇之南有一个名为“大鲵洞”的地下阴河出口.每年山洪暴发时,会有许多幼小的大鲵(Andrias davidianus)从洞口涌出.2006年1月7日,笔者曾亲自参与对大鲵洞及其大鲵的考察.

  18. A RARE CASE OF GRISCELLI’S SYNDROME WITH REVIEW OF LITERATURE

    Directory of Open Access Journals (Sweden)

    Narayan Reddy

    2014-06-01

    Full Text Available INTRODUCTION: Griscelli syndrome is a rare autosomal recessive disorder characterized by partial albinism and immunodeficiency. The characteristic features include silver hair due to clumped melanosomes in hair shaft. Other features include hepatospleenomegaly, hepatitis, pancytopenia and immune abnormalities. CASE REPORT: A seven years old male child presented with partial albinic features and history of recurrent respiratory tract infection. The child had fever since 2months along with hepatospleenomegaly, pancytopenia and thrombocytopenic purpura. These rare clinical manifestations were diagnosed as GS which was confirmed by bone marrow biopsy and light microscopy of hair shaft. The mean patient age of survival is 5years. As early diagnosis can improve the outcome in such cases, a finding of partial albinism should alert the diagnosis of Griscelli’s syndrome. CONCLUSION: We report a rare case of GS with characteristic manifestation surviving beyond the mean age of reported survival.

  19. GRISCELLI SYNDROME; A CASE REPORT AND REVIEW OF THE LITERATURE

    Directory of Open Access Journals (Sweden)

    B.Sh. Shamsian MD

    2009-01-01

    Full Text Available Abstract:Griscelli syndrome (GS is a rare disease first described in 1978. It is inherited in autosomal recessive pattern. This disease is characterized by partial albinism, pigmentation dilution, cellular immunodeficiency, neurological involvement & uncontrolled phases of macrophage & lymphocyte activation.We report a 5 months Old Iranian girl presenting with silver-gray hair,eyelashes and eyebrows, hepatosplenomegaly, pancytopenia, hemophagocytosis and progressive neurologic deterioration. Griscelli syndrome can be suggested according to her symptoms. The chemotherapy was not effective for her and she died due to multi organ failure.Key words:Griscelli syndrome, Hemophagocytosis, Albinism.

  20. Disease: H00823 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available on disorder of the neurocytes of the gut, and deafness. It is inherited as an autosomal recessive trait. Con...crest syndrome with albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness: ABCD syndrome. Am J Med Genet 56:322-6 (1995) ...

  1. Chediak-Higashi syndrome: brain MRI and MR spectroscopy manifestations

    Energy Technology Data Exchange (ETDEWEB)

    Lolli, Valentina; Soto Ares, Gustavo; Pruvo, Jean-Pierre [Roger Salengro Hospital, CHRU, Neuroradiology Department, Lille (France); Abou Chahla, Wadih [Jeanne de Flandre Hospital, Pediatric Hematology and Oncology Department, Lille (France); Jissendi-Tchofo, Patrice [University Hospital Saint-Pierre, Radiology Department - Pediatric Neuroradiology Section, Brussels (Belgium)

    2015-08-15

    Chediak-Higashi syndrome is a rare inherited metabolic disorder characterized by partial oculocutaneous albinism, immunodeficiency, and neurological dysfunction. We present the brain magnetic resonance imaging (MRI) and MR spectroscopy (MRS) findings obtained during the accelerated phase of the disorder in an 8-year-old. The brain MRI manifestations at recurrences 15 months and 24 months later are reported as well. (orig.)

  2. ABCD syndrome is caused by a homozygous mutation in the EDNRB gene

    NARCIS (Netherlands)

    Verheij, JBGM; Kunze, J; Osinga, J; van Essen, AJ; Hofstra, RMW

    2002-01-01

    ABCD syndrome is an autosomal recessive syndrome characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut (Hirschsprung disease [HSCR]), and deafness. This phenotype clearly overlaps with the features of the Shah-Waardenburg syndrome, comprising sensorineural deafn

  3. Infantile Hemophagocytic Lymphohistiocytosis in a Case of Chediak-Higashi Syndrome Caused by a Mutation in the LYST/CHS1 Gene Presenting With Delayed Umbilical Cord Detachment and Diarrhea

    DEFF Research Database (Denmark)

    Nielsen, Christian; Agergaard, Charlotte N; Jakobsen, Marianne A;

    2015-01-01

    A 2-month-old female infant, born to consanguineous parents, presented with infections in skin and upper respiratory tract. She was notable for delayed umbilical cord detachment, partial albinism, and neurological irritability. Giant granules were present in white blood cells. The intracellular p...

  4. Differences in iron concentration in whole blood of animal models using NAA

    Science.gov (United States)

    Bahovschi, V.; Zamboni, C. B.; Lopes Silva, L. F. F.; Metairon, S.; Medeiros, I. M. M. A.

    2015-07-01

    In this study Neutron Activation Analysis technique (NAA) was applied to determine Fe concentration in whole blood samples of several animal models such as: mice (Mus musculus), Golden Hamster (Mesocricetus auratus), Wistar rats, Albinic Rabbits of New Zealand, Golden Retriever dogs and Crioulabreed horses. These results were compared with human whole blood estimation to check their similarities.

  5. Kloostripäev Pirital

    Index Scriptorium Estoniae

    2003-01-01

    15. VIII Pirita kloostris konverents "Birgitiinide kodust Pirita asumiks". Esinevad Toomas Abiline, Jaan Tamm, Robert Nerman, Krista Kodres. Fuajees näitus Albin Strutzkini materjalidest Tallinna linnamuuseumis, Pirita postkaartide väljapanek Viktor Kuigi kogust. Eksponeeritud Tiina Veisseriku ikoonid tekstiilil, Anatoli Ljutjuki sari "Süütult solvatute kirik" kloostrivaremetes. Päev lõpeb rockoratooriumiga "Naerusuine vabadus"

  6. Ostracism of an albino individual by a group of pigmented catfish.

    Science.gov (United States)

    Slavík, Ondřej; Horký, Pavel; Maciak, Matúš

    2015-01-01

    Physiological and behavioural constraints hinder albino individuals. Albino animals are rare in the wild; this trait is associated with easy detection by predators, non-native or damaged environments, and exclusively aphotic environments in total darkness. The social aspect of albinism is reported only for human beings, and the effect is distinguishable in time and space when social benefits, are used to a limited the extent. Thus far, the social consequences of albinism for animals remain unknown. We used socially established groups of the pigmented catfish, (Silurus glanis), to observe space and temporal distance detachment of albino specimens in laboratory conditions. The albino fish were separated at larger distances from the group than pigmented individuals with the same social status determined by familiarity, and this asymmetry also varied in time. Albinism-related ostracism results in a solitary existence, usually followed by enhanced predation risk. The motivation for an individual's exclusion from a group appears to be the avoidance of the predation risk that increases not only for an odd individual but also for conspecifics within a group. Our findings indicate a role for albinism in behavioural processes related to sociality in a group of conspecifics. PMID:26018869

  7. Case report : a black and white twin

    NARCIS (Netherlands)

    Claas, M. J.; Timmermans, A.; Bruinse, H. W.

    2010-01-01

    Albinism is an autosomal recessive disorder that is caused by a defective synthesis of melanin, resulting in a generalized reduction of pigmentation in the skin, hair and eyes, and leading to an increased risk of skin cancer and vision problems. We report a case of a 22-year-old primigravida of Negr

  8. Women in IT

    Science.gov (United States)

    Campus Technology, 2011

    2011-01-01

    Today, female students outnumber males on campus, earn a higher number of BA degrees, and surpass men in completing advanced degrees. So there is a certain irony in the fact that executive roles on campus are still dominated by men--and IT is no exception. "Campus Technology" asked three women (Pam McQuesten, Dana Hoover, and Jill Albin-Hill)…

  9. Higher prevalence of OCA1 in an ethnic group of eastern India is due to a founder mutation in the tyrosinase gene.

    NARCIS (Netherlands)

    Chaki, M.; Mukhopadhyay, A.; Chatterjee, S.; Das, M.; Samanta, S.; Ray, K.

    2005-01-01

    PURPOSE: Oculocutaneous albinism (OCA) is a group of autosomal recessive disorders characterized by deficient synthesis of melanin pigment and associated with common developmental abnormalities of the eye. It is one of the major causes of childhood blindness in India. The disease is common among an

  10. OCA1 in different ethnic groups of india is primarily due to founder mutations in the tyrosinase gene.

    NARCIS (Netherlands)

    Chaki, M.; Sengupta, M.; Mukhopadhyay, A.; Subba Rao, I.; Majumder, P.P.; Das, M.; Samanta, S.; Ray, K.

    2006-01-01

    Oculocutaneous albinism (OCA) is a heterogeneous group of autosomal recessive disorders characterized by an abnormally low amount of melanin in the eyes, skin and hair, and associated with common developmental abnormalities of the eye. Defects in the tyrosinase gene (TYR) cause a common type of OCA,

  11. Albinistic common seals (Phoca vitulina) and melanistic grey seals (Halichoerus grypus) rehabilitated in the Netherlands

    NARCIS (Netherlands)

    Osinga, Nynke; 't Hart, Pieter; Vader, Pieter C. van Voorst

    2010-01-01

    The Seal Rehabilitation and Research Centre (SRRC) in Pieterburen, The Netherlands, rehabilitates seals from the waters of the Wadden Sea, North Sea and Southwest Delta area. Incidental observations of albinism and melanism in common and grey seals are known from countries surrounding the North Sea.

  12. Effect of visual impairment on goal-directed aiming movements in children

    NARCIS (Netherlands)

    Reimer, A.M.; Cox, R.F.A.; Boonstra, N.F.; Smits-Engelsman, B.C.M.

    2008-01-01

    This study investigated potential differences in motor control between children with a visual impairment (diagnosed albinism; n=11, mean age 8y 4mo [SD 7mo]; seven males, four females,) and children with normal vision (n=11, mean age 8y 4mo [SD 7mo]; six males, five females). Mean near visual acuity

  13. Hermansky-Pudlak syndrome: A case report

    Directory of Open Access Journals (Sweden)

    R Vani

    2014-01-01

    Full Text Available Hermansky-Pudlak syndrome (HPS is a rare autosomal recessive disorder, which results in oculocutaneous albinism, bleeding disorders, and storage of abnormal fat protein compound (liposomal accumulation of ceroid lipofuscin. The major complications of this disorder are pulmonary fibrosis (PF and colitis. This is a case report of an HPS patient with PF.

  14. Effect of visual impairment on goal-directed aiming movements in children.

    NARCIS (Netherlands)

    Reimer, A.M.; Cox, R.F.A.; Boonstra, N.F.; Smits-Engelsman, B.C.M.

    2008-01-01

    This study investigated potential differences in motor control between children with a visual impairment (diagnosed albinism; n=11, mean age 8y 4mo [SD 7mo]; seven males, four females,) and children with normal vision (n=11, mean age 8y 4mo [SD 7mo]; six males, five females). Mean near visual acuity

  15. Ostracism of an albino individual by a group of pigmented catfish.

    Directory of Open Access Journals (Sweden)

    Ondřej Slavík

    Full Text Available Physiological and behavioural constraints hinder albino individuals. Albino animals are rare in the wild; this trait is associated with easy detection by predators, non-native or damaged environments, and exclusively aphotic environments in total darkness. The social aspect of albinism is reported only for human beings, and the effect is distinguishable in time and space when social benefits, are used to a limited the extent. Thus far, the social consequences of albinism for animals remain unknown. We used socially established groups of the pigmented catfish, (Silurus glanis, to observe space and temporal distance detachment of albino specimens in laboratory conditions. The albino fish were separated at larger distances from the group than pigmented individuals with the same social status determined by familiarity, and this asymmetry also varied in time. Albinism-related ostracism results in a solitary existence, usually followed by enhanced predation risk. The motivation for an individual's exclusion from a group appears to be the avoidance of the predation risk that increases not only for an odd individual but also for conspecifics within a group. Our findings indicate a role for albinism in behavioural processes related to sociality in a group of conspecifics.

  16. Electrodiagnosis in paediatric ophthalmogenetics

    NARCIS (Netherlands)

    P.A. Pkarian (Patricia)

    1994-01-01

    textabstractIn the present overview, practical application of the visual evoked potential (VEP) in paediatric neuro-ophthalmology is described across a wide range of ophthalmogenetic disorders, including albinism, Pelizaeus-Merzbacher disease and spastic paraplegia. The VEP approach is based on a fo

  17. Hermansky-Pudlak Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Ilhami Berber

    2014-01-01

    Full Text Available Objective. The aim of this paper is to report the case of a patient diagnosed with Hermansky-Pudlak syndrome, as a result of bleeding diathesis. Clinical Presentation and Intervention. A 23-year-old male presented with recurrent epistaxis and, upon physical examination, was found to be remarkable for albinism and suborbital ecchymosis. The absence of dense bodies in the platelets was demonstrated using electron microscopy. This patient was (slowly administered one unit of a platelet suspension, and his bleeding decreased considerably. Conclusion. This case shows that Hermansky-Pudlak syndrome should be considered in the differential diagnosis of a patient presenting with bleeding diathesis, when the clinical presentation also includes oculocutaneous albinism and visual problems.

  18. Differences in MITF gene expression and histology between albino and normal sea cucumbers ( Apostichopus japonicus Selenka)

    Science.gov (United States)

    Zhao, Heling; Yang, Hongsheng; Zhao, Huan; Liu, Shilin; Wang, Tianming

    2012-01-01

    Albino Apostichopus japonicus occur both in the wild and in captivity. The offspring of albino A. japonicus also suffer from albinism. The formation of melanin in the melanocytes is dependant on microphthalmia-associated transcription factor (MITF). To investigate the role of MITF in controlling albinism, we cloned the full-length MITF cDNA from A. japonicus and compared MITF mRNA expression in albino and normal A. japonicus. In addition, we used light and electron microscopy to compare histological samples of normal and albino A. japonicus. The body wall of albino adults was characterized by significantly lower levels of MITF expression and lower numbers of epidermal melanocytes, which also contained less melanin. In albino juvenile offspring, MITF expression levels were significantly lower 32 d after fertilization and there were fewer, and less developed, epidermal melanocytes. Thus, we conclude that albino A. japonicus have fewer melanocytes and a reduced ability to synthesize melanin, likely because of lower expression of MITF.

  19. Localization to Mature Melanosomes by Virtue of Cytoplasmic Dileucine Motifs Is Required for Human OCA2 Function

    OpenAIRE

    Sitaram, Anand; Piccirillo, Rosanna; Palmisano, Ilaria; Harper, Dawn C.; Dell'Angelica, Esteban C; Schiaffino, M. Vittoria; Marks, Michael S.

    2009-01-01

    Oculocutaneous albinism type 2 is caused by defects in the gene OCA2, encoding a pigment cell-specific, 12-transmembrane domain protein with homology to ion permeases. The function of the OCA2 protein remains unknown, and its subcellular localization is under debate. Here, we show that endogenous OCA2 in melanocytic cells rapidly exits the endoplasmic reticulum (ER) and thus does not behave as a resident ER protein. Consistently, exogenously expressed OCA2 localizes within melanocytes to mela...

  20. Anaesthesia Management in a Patient with Waardenburg Syndrome and Review of the Literature

    OpenAIRE

    Peker, Kevser; Ergil, Julide; Öztürk, İbrahim

    2015-01-01

    Waardenburg syndrome is a rare autosomal dominant disease that may cause hearing loss, pigmentary abnormalities, neurocristopathy and partial albinism. Incidence is estimated as 2%–3% among the cases of congenital deafness and 1/42,000 of the general population. Children with Waardenburg syndrome usually require anaesthesia for the cochlear implant operation in early age. The features of the syndrome that may bear importance for anaesthetic management are laryngomalacia, multiple muscle contr...

  1. Behavior of an albino vampire bat, Desmodus rotundus (E. Geoffroy) (Chiroptera, Phyllostomidae), in captivity

    OpenAIRE

    Wilson Uieda

    2001-01-01

    Albinism in the common vampire bat Desmodus rotundus (E. Geoffrey, 1810) was already reported for seven individuals, six of them did in Brazil. Although this species is relatively easy to keep in captivity and many studies with normally pigmented bats were did under laboratory conditions, no reports on detailed observations of captive albino vampire bats were found in literature. This paper reports some behavioral observation of a single albino female D. rotundus kept in captivity in Brazil b...

  2. Residential mobility among foreign-born persons living in Sweden is associated with lower mortality

    OpenAIRE

    Björn Albin; Katarina Hjelm; Jan Ekberg; et al

    2010-01-01

    Björn Albin1,2, Katarina Hjelm1,2, Jan Ekberg3, Sölve Elmståhl41School of Health and Caring Sciences, Linnaeus University, Växjö, Sweden; 2Department of Health Sciences, Division of Geriatric Medicine, Lund University, Sweden; 3Centre of Labour Market Policy Research (CAFO), School of Management and Economics, Växjö University, Sweden; 4Department of Health Sciences, Division of Geriatric Medicine, Lund University, SwedenAbstract...

  3. Low Vision Management For Infantile Nystagmus: A Case Study

    OpenAIRE

    Alexandra Troy, OD; Sara Appel, OD

    2015-01-01

    Background: Infantile nystagmus is a common cause of visual impairment. It can occur in isolation, but it is often found in association with other conditions, such as albinism. The condition results in varying levels of vision impairments ranging from mild to severe. Characteristics include early onset, bilateral involvement, pendular and jerk waveforms, the presence of a null point, and the lack of optokinetic nystagmus and oscillopsia (environment moving). This article provides a review of...

  4. The role of losartan and enalapril in the protection against stress-induced gastric mucosal ulceration in rats

    OpenAIRE

    Ahmed, Sanaa A.; Mahmoud H. Abdel-Rahim; Hytham M. Abdel-latif

    2016-01-01

    Background: Angiotensin II (ANG II) is a stress hormone and its level dramatically increases in the stomach during stress. In addition, it generates reactive oxygen species (ROS) with cellular damage and inflammation. So the aim of this study is to evaluate the mechanism of losartan and enalapril in the prevention of stress-induced gastric ulcer through their action on mucosal prostaglandin (PGs) and antioxidant enzymes and compare between them. Methods: Thirty- six adult male wistar albin...

  5. A Potent Activator of Melanogenesis Identified from Small Molecule Screening

    OpenAIRE

    McNaughton, Brian R.; Gareiss, Peter C.; Jacobs, Stacey E.; Fricke, Alex F.; Scott, Glynis A.; Miller, Benjamin L.

    2009-01-01

    Small molecules that increase the cellular level of melanin can be used to study melanogenesis, and have therapeutic potential for melanin-related diseases such as albinism. We describe the identification of a potent activator of melanogenesis from a targeted combinatorial library. Treating melanocytes with our most active molecule results in a 1.8-fold increase in melanin, and an increase in tyrosinase-catalyzed oxidation of L-tyrosine, a key step in melanin biosynthesis.

  6. The Effect of Celecoxib, a Cyclooxygenase-2 Inhibitor on Noise- Induced Hearing Loss

    OpenAIRE

    Akram Pourbakht

    2013-01-01

    Objective(s): Noise-induced hearing loss (NIHL) is the major cause of acquired hearing loss.  Celecoxib, a cyclooxygenase-2 (COX-2) inhibitor, is a non- steroidal anti- inflammatory drug (NSAID) with known antioxidant and antineoplastic activity. Therefore, we monitored the extent of temporary noise- induced threshold shifts (TTS) and cochlear damage caused by high level 4- kHz noise exposure to verify the differences with those pretreated with celecoxib. Materials and Methods: Ten male albin...

  7. Vitiligo vulgaris and autoimmune diseases in Japan: A report from vitiligo clinic in Kyoto University Hospital

    OpenAIRE

    Tanioka, Miki; Yamamoto, Yosuke; Katoh, Mayumi; Takahashi, Kenzo; MIYACHI, YOSHIKI

    2009-01-01

    We reviewed the causes of “loss of skin color” in 144 patients, who visited Vitiligo Clinic of Kyoto University Hospital between April 2005 and August 2008. The numbers of patients with generalized and segmental Vitiligo vulgaris were 98 (68.1%) and 26 (18.1%), respectively. Small numbers of the patients suffered from Vogt-Koyanagi-Harada disease, piebaldism, congenital albinism, Hypomelanosis of Ito, post-inflammatory hypopigmentation, white leaf-shaped macules associated with tuberous scler...

  8. Chediak-Higashi Syndrome – A Report of Two Cases with Unusual Hyperpigmentation of the Face

    Directory of Open Access Journals (Sweden)

    Mukta PUJANI

    2011-09-01

    Full Text Available Chediak-Higashi syndrome is a rare autosomal recessive disorder due to a qualitative defect in leucocyte function characterized clinically by partial oculocutaneous albinism, recurrent bacterial infections, photophobia etc. The diagnostic feature is the presence of abnormal giant intracytoplasmic granules in neutrophils and their precursors. Here we report this syndrome in two siblings who presented with an unusual hyperpigmentation of the face and extremities.

  9. Griscelli syndrome

    Directory of Open Access Journals (Sweden)

    Kumar T

    2006-01-01

    Full Text Available Partial albinism with immunodeficiency is a rare and fatal immunologic disorder characterized by pigmentary dilution and variable cellular immunodeficiency. It was initially described in 1978. Primary abnormalities included silvery grayish sheen to the hair, large pigment agglomerations in hair shafts and an abundance of mature melanosomes in melanocytes, with reduced pigmentation of adjacent keratinocytes. We describe a child with Griscelli syndrome who presented with hepatitis, pancytopenia and silvery hair. The diagnosis was confirmed by microscopic skin and hair examination.

  10. AO/ASIF(国际内固定研究学会)及其对全球骨折手术的影响

    Institute of Scientific and Technical Information of China (English)

    罗炯; 王满宜

    2002-01-01

    @@ 十九世纪后半叶,随着灭菌术的发展,骨折手术治疗的危险性大大降低.第二次世界大战后,在 Albin Lambotte, Robert Danis, Gerhard Kuntscher和 Lorenz Bohler等欧洲矫形外科先驱们的影响下,骨折内固定的治疗才得以真正发展.

  11. The effects of inhaled formaldehyde on the activities of some metabolic enzymes in the liver of male rats: subchronic (13-weeks) effects

    OpenAIRE

    Yılmaz, H.Ramazan; ÖZEN, O. Aslan; Özyurt, Hüseyin; Songur, Ahmet; Şahin, Şemsettin; Sarsılmaz, Mustafa

    2013-01-01

    Abstract. We aimed to investigate the effects of different formaldehyde (FA) concentrations on some enzyme activities that take part in metabolic pathways in the liver. The enzymes studied were hexokinase (HK), glucose-6-phosphate dehydrogenase (G6PD), 6-phosphogluconate dehydrogenase (6PGD), lactate dehydrogenase (LDH), and malate dehydrogenase (MDH) which are included in the three main metabolic pathways; glycolysis, citric acid cycle, and pentose phosphate pathway. Thirty male Wistar albin...

  12. Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay

    Directory of Open Access Journals (Sweden)

    Hamel Christian

    2003-01-01

    Full Text Available Abstract Background X-linked ocular albinism type 1 (OA1 is caused by mutations in OA1 gene, which encodes a membrane glycoprotein localised to melanosomes. OA1 mainly affects pigment production in the eye, resulting in optic changes associated with albinism including hypopigmentation of the retina, nystagmus, strabismus, foveal hypoplasia, abnormal crossing of the optic fibers and reduced visual acuity. Affected Caucasian males usually appear to have normal skin and hair pigment. Results We identified three previously undescribed mutations consisting of two intragenic deletions (one encompassing exon 6, the other encompassing exons 7–8, and a point mutation (310delG in exon 2. We report the development of a new method for diagnosis of heterozygous deletions in OA1 gene based on measurement of gene copy number using real-time quantitative PCR from genomic DNA. Conclusion The identification of OA1 mutations in families earlier reported as families with hereditary nystagmus indicate that ocular albinism type 1 is probably underdiagnosed. Our method of real-time quantitative PCR of OA1 exons with DMD exon as external standard performed on the LightCycler™ allows quick and accurate carrier-status assessment for at-risk females.

  13. L-DOPA is an endogenous ligand for OA1.

    Directory of Open Access Journals (Sweden)

    Vanessa M Lopez

    2008-09-01

    Full Text Available Albinism is a genetic defect characterized by a loss of pigmentation. The neurosensory retina, which is not pigmented, exhibits pathologic changes secondary to the loss of pigmentation in the retina pigment epithelium (RPE. How the loss of pigmentation in the RPE causes developmental defects in the adjacent neurosensory retina has not been determined, but offers a unique opportunity to investigate the interactions between these two important tissues. One of the genes that causes albinism encodes for an orphan GPCR (OA1 expressed only in pigmented cells, including the RPE. We investigated the function and signaling of OA1 in RPE and transfected cell lines. Our results indicate that OA1 is a selective L-DOPA receptor, with no measurable second messenger activity from two closely related compounds, tyrosine and dopamine. Radiolabeled ligand binding confirmed that OA1 exhibited a single, saturable binding site for L-DOPA. Dopamine competed with L-DOPA for the single OA1 binding site, suggesting it could function as an OA1 antagonist. OA1 response to L-DOPA was defined by several common measures of G-protein coupled receptor (GPCR activation, including influx of intracellular calcium and recruitment of beta-arrestin. Further, inhibition of tyrosinase, the enzyme that makes L-DOPA, resulted in decreased PEDF secretion by RPE. Further, stimulation of OA1 in RPE with L-DOPA resulted in increased PEDF secretion. Taken together, our results illustrate an autocrine loop between OA1 and tyrosinase linked through L-DOPA, and this loop includes the secretion of at least one very potent retinal neurotrophic factor. OA1 is a selective L-DOPA receptor whose downstream effects govern spatial patterning of the developing retina. Our results suggest that the retinal consequences of albinism caused by changes in melanin synthetic machinery may be treated by L-DOPA supplementation.

  14. Research on SINS/GPS Integrated Navigation Kalman Filter Algorithm%SINS/GPS组合导航卡尔曼滤波算法研究

    Institute of Scientific and Technical Information of China (English)

    牛强军; 张潮; 苏登辉

    2015-01-01

    Aiming at that single use of any kind of navigation equipment will not meet requirement of airborne fire control system and flight system, deduce a new Kalman filter algorithm of SINS/GPS integrated navigation. Introduce albinism processing of colored noise into Kalman filter, design a dynamic vehicle integrated navigation test system, put forwards the steps of Kalman filter algorithm based on colored noise albinism, use dynamic vehicle SINS/GPS integrated navigation system test data analysis to validate correctness and rationality of algorithm. The analyse results show that, Kalman filter which based on colored noise albinism make up for the deficiency of traditional Kalman filter, and improve the accuracy of navigation result.%针对单独使用某一种的导航设备都无法满足机载火控系统和飞行系统要求的问题,推导出 SINS/GPS 组合导航中的一种新的卡尔曼滤波算法.将有色噪声的白化处理引入到卡尔曼滤波器,设计了一套动态车载组合导航试验系统,给出了基于有色噪声白化的卡尔曼滤波器算法的具体步骤,以动态车载 SINS/GPS 组合导航系统试验的数据分析验证了此算法的正确性和合理性.分析结果表明:基于有色噪声白化的卡尔曼滤波器可以很好地解决有色噪声的影响,弥补了传统卡尔曼滤波器的不足,提高了导航结果的精确度.

  15. Anaesthesia Management in a Patient with Waardenburg Syndrome and Review of the Literature.

    Science.gov (United States)

    Peker, Kevser; Ergil, Julide; Öztürk, İbrahim

    2015-10-01

    Waardenburg syndrome is a rare autosomal dominant disease that may cause hearing loss, pigmentary abnormalities, neurocristopathy and partial albinism. Incidence is estimated as 2%-3% among the cases of congenital deafness and 1/42,000 of the general population. Children with Waardenburg syndrome usually require anaesthesia for the cochlear implant operation in early age. The features of the syndrome that may bear importance for anaesthetic management are laryngomalacia, multiple muscle contractures, limited neck movements, cyanotic cardiopathy and electrolyte imbalance. Patients with Waardenburg syndrome stand for difficult airway. We aimed to report anaesthetic management of a child with Waardenburg syndrome who underwent surgery for cochlear implantation. PMID:27366529

  16. Homozygosity for Waardenburg syndrome.

    OpenAIRE

    Zlotogora, J; Lerer, I; Bar-David, S; Ergaz, Z; Abeliovich, D

    1995-01-01

    In a large kindred including many individuals affected with Waardenburg (WS) type 1 (WS1) syndrome, a child affected with a very severe form of WS type 3 was born. This child presented with dystopia canthorum, partial albinism, and very severe upper-limb defects. His parents were first cousins, both affected with a mild form of WS1. Molecular analysis of PAX3, the gene that was determined by linkage to cause the disorder in the family, demonstrated a novel missense mutation (S84F) in exon 2 o...

  17. GRISCELLI SYNDROME; A CASE REPORT AND REVIEW OF THE LITERATURE

    Directory of Open Access Journals (Sweden)

    B.Sh. Shamsian

    2007-02-01

    Full Text Available Griscelli syndrome (GS is a rare disease first described in 1978. It isinherited in autosomal recessive pattern. This disease is characterizedby partial albinism, pigmentation dilution, cellular immunodeficiency,neurological involvement & uncontrolled phases of macrophage &lymphocyte activation.We report a 5 months Old Iranian girl presenting with silver-gray hair,eyelashes and eyebrows, hepatosplenomegaly, pancytopenia,hemophagocytosis and progressive neurologic deterioration. Griscellisyndrome can be suggested according to her symptoms. Thechemotherapy was not effective for her and she died due to multiorgan failure.

  18. Constitution d'une légende hagiographique : le " martyre " d'Irénée de Lyon

    OpenAIRE

    Decourt, Jean-Claude

    2009-01-01

    La présente contribution reprend l'ensemble du corpus des textes grecs et latins concernant la tradition du martyre d'Irénée de Lyon et tente de montrer que cette dernière est une construction tardive, à la fois littéraire et hagiographique reposant sur deux autres événements historiques, le martyre des Quarante-Huit en 177 et la bataille de Lyon entre Sévère et Albin en 197, confondus et remaniés. This paper gathers all the Greek and Latin testimonia which deal with the so-called martyrdo...

  19. Chediak-Higashi syndrome presenting in accelerated phase: A case report and literature review.

    Science.gov (United States)

    Maaloul, I; Talmoudi, J; Chabchoub, I; Ayadi, L; Kamoun, T H; Boudawara, T; Kallel, C H; Hachicha, M

    2016-06-01

    Chediak-Higashi syndrome (CHS) is a rare autosomal recessive lysosomal disorder characterized by frequent infections, oculocutaneous albinism, bleeding diathesis, and progressive neurologic deterioration. In 85% of cases, CHS patients develop the accelerated phase characterized by pancytopenia, high fever, and lymphohistiocytic infiltration of liver, spleen, and lymph nodes. Treatment of accelerated-phase CHS is difficult and the prognosis is poor. Here, we report a case of CHS in a 2-year-old boy who presented in the accelerated phase of the disease. CHS diagnosis was made on the basis of clinical characteristics, hair analysis, and identification of pathognomonic giant azurophilic granules in peripheral blood and bone marrow. PMID:26254864

  20. Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinsm (OCA)

    Energy Technology Data Exchange (ETDEWEB)

    Tripathi, R.K.; Droetto, S.; Strunk, K.M.; Holmes, S.A.; Spritz, R.A. (Univ. of Wisconsin, Madison, WI (United States)); Bundey, S.; Musarella, M.A.

    1993-12-01

    Oculocutaneous albinism (OCA) is a group of autosomal recessive disorders characterized by deficient synthesis of melanin pigment. Type I (tyrosinase-deficient) OCA results from mutations of the tyrosinase gene (TYR gene) encoding tyrosinase, the enzyme that catalyzes the first two steps of melanin biosynthesis. Mutations of the TYR gene have been identified in a large number of patients, most of Caucasian ethnic origin, with various forms of type I OCA. The authors present an analysis of the TYR gene in eight Indo-Pakistani patients with type I OCA. The authors describe four novel TYR gene mutations and a fifth mutation previously observed in a Caucasian patient. 16 refs., 6 figs.

  1. 三家法国出版社起诉谷歌

    Institute of Scientific and Technical Information of China (English)

    2011-01-01

    法国阿尔班一米歇尔出版社(Albin Michel)、弗拉姆利翁出版社(Flammanon)和加利马尔出版社(Gatlimard)联合起诉“谷歌图书搜索”,称其未经允许扫描他们出版的9797本书。5月6日,律师提交诉状,要求谷歌每本书赔偿1000欧元,共计近980万欧元。

  2. 怀旧与创新

    Institute of Scientific and Technical Information of China (English)

    Petter; Trnqvist; Axel; von; Friesen; Kristoffer; Sundin; Erik; Whlstrm; 余丹

    2009-01-01

    位于瑞典斯德哥尔摩的这家影剧院,是该市自1973年以来少数几家保存下来的独立影院之一。从1940年代开业至今,已是几易其主,几经更名。去年秋天之后,它被重新命名为Rio——这正是它开业时的名字,建筑由当时瑞典著名的建筑师Albin Stark主持

  3. A case of leucism in House Sparrow, Passer domesticus (Linnaeus, 1758 in an island of São Francisco river, northeastern Brazil

    Directory of Open Access Journals (Sweden)

    Leonardo Barros Ribeiro

    2012-03-01

    Full Text Available Leucism in birds is a genetic disorder characterized by the total absence of melanin in some or all feathers, but unlike albinism, the other body parts, such as eyes, beak, and tarsi remain with the typical color of the species. The House Sparrow Passer domesticus is a bird native from Europe, Asia, and North Africa. It has been introduced in North America, South America, South Africa, Australia, and New Zealand. Currently, it is the bird species with the largest geographical range. Here, we report the record of a leucistic specimen of Passer domesticus from Rodeadouro island, São Francisco river, northeastern Brazil.

  4. Griscelli syndrome type 2: A rare and fatal syndrome in a South Indian boy

    Directory of Open Access Journals (Sweden)

    R Rajyalakshmi

    2016-01-01

    Full Text Available Griscelli syndrome (GS is a rare autosomal recessive disorder caused by mutation in the MYO5A (GS1, RAB27A (GS2, and MLPH (GS3 genes, characterized by a common feature, partial albinism. The common variant of three, GS type 2, in addition, shows primary immunodeficiency which leads to recurrent infections and hemophagocytic lymphohistiocytosis. We, herewith, describe a case of GS type 2, in a 4-year-old male child who presented with chronic and recurrent fever, lymphadenopathy, hepatosplenomegaly, and secondary neurological deterioration; highlighting the cytological and histopathological features of lymph nodes. Hair shaft examination of the child confirmed the diagnosis.

  5. Visualization of Intracellular Tyrosinase Activity in vitro

    Science.gov (United States)

    Setty, Subba Rao Gangi

    2016-01-01

    Melanocytes produce the melanin pigments in melanosomes and these organelles protect the skin against harmful ultraviolet rays. Tyrosinase is the key cuproenzyme which initiates the pigment synthesis using its substrate amino acid tyrosine or L-DOPA (L-3, 4-dihydroxyphenylalanine). Moreover, the activity of tyrosinase directly correlates to the cellular pigmentation. Defects in tyrosinase transport to melanosomes or mutations in the enzyme or reduced intracellular copper levels results in loss of tyrosinase activity in melanosomes, commonly observed in albinism. Here, we described a method to detect the intracellular activity of tyrosinase in mouse melanocytes. This protocol will visualize the active tyrosinase present in the intracellular vesicles or organelles including melanosomes. PMID:27231711

  6. 富拉尔基地区白化病的调查报告

    Institute of Scientific and Technical Information of China (English)

    刘枫; 郑立红; 赵景丽; 闫爱春; 杨淑珍

    2000-01-01

    @@ 白化病(oculataneous albinism,OCA)是一种黑色素代谢紊乱所导致的遗传性疾病.属常染色体隐性遗传,不同地区不同人群中患病率不同.我们在全国第二次人口普查基础上,在齐齐哈尔市富拉尔基区调查了"白化病"的发病情况,现报告如下.

  7. Hermansky-Pudlak syndrome; a Case Report

    Directory of Open Access Journals (Sweden)

    Abbas Bagheri

    2010-01-01

    Full Text Available Purpose: To report a case of Hermansky-Pudlak syndrome. Case Report: A seven-year-old boy presented with marked generalized hypopigmentation, ocular exodeviation and nystagmus. He had history of easy bruising. Examination revealed green irides with marked transillumination, hypopigmented fundi and foveal hypoplasia. Further investigations disclosed platelet storage defect with adenosine diphosphate deficiency and abnormal aggregation compatible with Hermansky-Pudlak syndrome. The patient underwent strabismus surgery taking necessary precautions such as reserving platelet concentrates in case of a hemorrhagic event. Conclusion: Patients with albinism should be evaluated for Hermansky-Pudlak syndrome especially before surgery to prevent life-threatening complications.

  8. Proteomic analysis of young leaves at three developmental stages in an albino tea cultivar

    Directory of Open Access Journals (Sweden)

    Li Juan

    2011-08-01

    Full Text Available Abstract Background White leaf No.1 is a typical albino tea cultivar grown in China and it has received increased attention in recent years due to the fact that white leaves containing a high level of amino acids, which are very important components affecting the quality of tea drink. According to the color of its leaves, the development of this tea cultivar is divided into three stages: the pre-albinistic stage, the albinistic stage and the regreening stage. To understand the intricate mechanism of periodic albinism, a comparative proteomic approach based on two-dimensional electrophoresis (2-DE and mass spectrometry was adopted first time to identify proteins that changed in abundance during the three developmental periods. Results The 2-DE results showed that the expression level of 61 protein spots varied markedly during the three developmental stages. To analyze the functions of the significantly differentially expressed protein spots, 30 spots were excised from gels and analyzed by matrix-assisted laser desorption ionization-time of flight-tandem mass spectrometry. Of these, 26 spots were successfully identified. All identified protein spots were involved in metabolism of carbon, nitrogen and sulfur, photosynthesis, protein processing, stress defense and RNA processing, indicating these physiological processes may play crucial roles in the periodic albinism. Quantitative real-time RT-PCR analysis was used to assess the transcriptional level of differentially expressed proteins. In addition, the ultrastructural studies revealed that the etioplast-chloroplast transition in the leaf cell of White leaf No. 1 was inhibited and the grana in the chloroplast was destroyed at the albinistic stage. Conclusions In this work, the proteomic analysis revealed that some proteins may have important roles in the molecular events involved in periodic albinism of White leaf No. 1 and identificated many attractive candidates for further investigation. In

  9. Characterization and comparison of proteomes of albino sea cucumber Apostichopus japonicus (Selenka) by iTRAQ analysis.

    Science.gov (United States)

    Xia, Chang-ge; Zhang, Dijun; Ma, Chengnv; Zhou, Jun; He, Shan; Su, Xiu-rong

    2016-04-01

    Sea cucumber is a commercially important marine organism in China. Of the different colored varieties sold in China, albino sea cucumber has the greatest appeal among consumers. Identification of factors contributing to albinism in sea cucumber is therefore likely to provide a scientific basis for improving the cultivability of these strains. In this study, two-dimensional liquid chromatography-tandem mass spectrometry coupled with isobaric tags for relative and absolute quantification labeling was used for the first time to quantitatively define the proteome of sea cucumbers and reveal proteomic characteristics unique to albino sea cucumbers. A total of 549 proteins were identified and quantified in albino sea cucumber and the functional annotations of 485 proteins have been exhibited based on COG database. Compared with green sea cucumber, 12 proteins were identified as differentially expressed in the intestine and 16 proteins in the body wall of albino sea cucumber. Among them, 5 proteins were up-regulated in the intestine and 8 proteins were down-regulated in body wall. Gene ontology annotations of these differentially expressed proteins consisted mostly of 'biological process'. The large number of differentially expressed proteins identified here should be highly useful in further elucidating the mechanisms underlying albinism in sea cucumber. PMID:26707782

  10. Soluble tyrosinase is an endoplasmic reticulum (ER)-associated degradation substrate retained in the ER by calreticulin and BiP/GRP78 and not calnexin.

    Science.gov (United States)

    Popescu, Costin I; Paduraru, Crina; Dwek, Raymond A; Petrescu, Stefana M

    2005-04-01

    Tyrosinase is a type I membrane protein regulating the pigmentation process in humans. Mutations of the human tyrosinase gene cause the tyrosinase negative type I oculocutaneous albinism (OCAI). Some OCAI mutations were shown to delete the transmembrane domain or to affect its hydrophobic properties, resulting in soluble tyrosinase mutants that are retained in the endoplasmic reticulum (ER). To understand the specific mechanisms involved in the ER retention of soluble tyrosinase, we have constructed a tyrosinase mutant truncated at its C-terminal end and investigated its maturation process. The mutant is retained in the ER, and it is degraded through the proteasomal pathway. We determined that the mannose trimming is required for an efficient degradation process. Moreover, this soluble ER-associated degradation substrate is stopped at the ER quality control checkpoint with no requirements for an ER-Golgi recycling pathway. Co-immmunoprecipitation experiments showed that soluble tyrosinase interacts with calreticulin and BiP/GRP78 (and not calnexin) during its ER transit. Expression of soluble tyrosinase in calreticulin-deficient cells resulted in the export of soluble tyrosinase of the ER, indicating the calreticulin role in ER retention. Taken together, these data show that OCAI soluble tyrosinase is an ER-associated degradation substrate that, unlike other albino tyrosinases, associates with calreticulin and BiP/GRP78. The lack of specificity for calnexin interaction reveals a novel role for calreticulin in OCAI albinism.

  11. Large-Scale Recombinant Expression and Purification of Human Tyrosinase Suitable for Structural Studies.

    Science.gov (United States)

    Lai, Xuelei; Soler-Lopez, Montserrat; Wichers, Harry J; Dijkstra, Bauke W

    2016-01-01

    Human tyrosinase (TYR) is a glycoprotein that initiates the first two reactions in the melanin biosynthesis pathway. Mutations in its encoding gene cause Oculocutaneous Albinism type I (OCA1), the most severe form of albinism, which is a group of autosomal recessive disorders characterized by reduced or absent production of melanin in skin, hair and eyes. Despite extensive structural and characterization studies of its homologues in lower eukaryotic organisms, the catalytic mechanism of human TYR and the molecular basis of OCA1 are largely unknown. In this work, we have carried out a large-scale recombinant expression of TYR that has enabled us to obtain high yields of pure and active protein, required for crystallization trials and screening of skin whitening agents, which is highly demanded in the cosmetic industry. Addition of an N-terminal honeybee melittin signal peptide for secretion of the produced protein into the (protein-free) medium, as well as a cleavable His-tag at the C-terminus, was crucial for increasing the yield of pure protein. We have successfully crystallized two TYR variants, in both glycosylated and deglycosylated forms, showing preliminary X-ray diffraction patterns at 3.5 Å resolution. Hence, we have established an expression and purification protocol suitable for the crystal structure determination of human TYR, which will give unique atomic insight into the nature and conformation of the residues that shape the substrate binding pocket that will ultimately lead to efficient compound design. PMID:27551823

  12. Large-Scale Recombinant Expression and Purification of Human Tyrosinase Suitable for Structural Studies

    Science.gov (United States)

    Lai, Xuelei; Soler-Lopez, Montserrat; Wichers, Harry J.

    2016-01-01

    Human tyrosinase (TYR) is a glycoprotein that initiates the first two reactions in the melanin biosynthesis pathway. Mutations in its encoding gene cause Oculocutaneous Albinism type I (OCA1), the most severe form of albinism, which is a group of autosomal recessive disorders characterized by reduced or absent production of melanin in skin, hair and eyes. Despite extensive structural and characterization studies of its homologues in lower eukaryotic organisms, the catalytic mechanism of human TYR and the molecular basis of OCA1 are largely unknown. In this work, we have carried out a large-scale recombinant expression of TYR that has enabled us to obtain high yields of pure and active protein, required for crystallization trials and screening of skin whitening agents, which is highly demanded in the cosmetic industry. Addition of an N-terminal honeybee melittin signal peptide for secretion of the produced protein into the (protein-free) medium, as well as a cleavable His-tag at the C-terminus, was crucial for increasing the yield of pure protein. We have successfully crystallized two TYR variants, in both glycosylated and deglycosylated forms, showing preliminary X-ray diffraction patterns at 3.5 Å resolution. Hence, we have established an expression and purification protocol suitable for the crystal structure determination of human TYR, which will give unique atomic insight into the nature and conformation of the residues that shape the substrate binding pocket that will ultimately lead to efficient compound design. PMID:27551823

  13. Chediak-Higashi: a case report

    Directory of Open Access Journals (Sweden)

    A Paymard

    2016-06-01

    Full Text Available Background & aim: Chédiak–Higashi syndrome, a rare autosomal recessive disorder characterized by immune deficiency, bleeding diathesis, recurrent bacterial infections, albinism dynamic and progressive neurological disorder, as well as major organs such as the liver and spleen lymphocytic infiltration is determined. The aim of this study was to report a case of a rare manifestation of the disease. Case Report: The case-study in the present report was a 4-month-old female that two months after vaccination had intermittent fever associated with fever, weakness, which lasted more than a week. After blood tests, ultrasound and examination of blood cells, Chédiak–Higashi syndrome diagnosis was made. In terms of blood cells, pancytopenia, platelets and fresh frozen plasma were administered to the patient to prevent bleeding. After Buttock infections, the patient was suffering from septicemia and septic shock followed by a lack of response to resuscitation and cardiopulmonary arrest and then died. Conclusion: In this patient all Chediak Higashi syndrome, including long fever, loss of appetite, frequent infections, albinism variable and multiple neurological deficit was seen. Chdyak Higashi syndrome is treatable with early diagnosis and bone marrow transplantation.

  14. Are mice pigmentary genes throwing light on humans?

    Directory of Open Access Journals (Sweden)

    Bose S

    1993-01-01

    Full Text Available In this article the rapid advances made in the molecular genetics of inherited disorders of hypo and hyperpigmentation during the past three years are reviewed. The main focus is on studies in mice as compared to homologues in humans. The main hypomelanotic diseases included are, piebaldism (white spotting due to mutations of c-KIT, PDGF and MGF genes; vitiligo (microphathalmia mice mutations of c-Kit and c-fms genes; Waardenburg syndrome (splotch locus mutations of mice PAX-3 or human Hup-2 genes; albinism (mutations of tyrosinase genes, Menkes disease (Mottled mouse, premature graying (mutations in light/brown locus/gp75/ TRP-1; Griscelli disease (mutations in TRP-1 and steel; Prader-willi and Angelman syndromes, tyrosinase-positive oculocutaneous albinism and hypomelanosis of lto (mutations of pink-eyed dilution gene/mapping to human chromosomes 15 q 11.2 - q12; and human platelet storage pool deficiency diseases due to defects in pallidin, an erythrocyte membrane protein (pallid mouse / mapping to 4.2 pallidin gene. The genetic characterization of hypermelanosis includes, neurofibromatosis 1 (Café-au-lait spots and McCune-Albright Syndrome. Rapid evolving knowledge about pigmentary genes will increase further the knowledge about these hypo and hyperpigmentary disorders.

  15. Soluble tyrosinase is an endoplasmic reticulum (ER)-associated degradation substrate retained in the ER by calreticulin and BiP/GRP78 and not calnexin.

    Science.gov (United States)

    Popescu, Costin I; Paduraru, Crina; Dwek, Raymond A; Petrescu, Stefana M

    2005-04-01

    Tyrosinase is a type I membrane protein regulating the pigmentation process in humans. Mutations of the human tyrosinase gene cause the tyrosinase negative type I oculocutaneous albinism (OCAI). Some OCAI mutations were shown to delete the transmembrane domain or to affect its hydrophobic properties, resulting in soluble tyrosinase mutants that are retained in the endoplasmic reticulum (ER). To understand the specific mechanisms involved in the ER retention of soluble tyrosinase, we have constructed a tyrosinase mutant truncated at its C-terminal end and investigated its maturation process. The mutant is retained in the ER, and it is degraded through the proteasomal pathway. We determined that the mannose trimming is required for an efficient degradation process. Moreover, this soluble ER-associated degradation substrate is stopped at the ER quality control checkpoint with no requirements for an ER-Golgi recycling pathway. Co-immmunoprecipitation experiments showed that soluble tyrosinase interacts with calreticulin and BiP/GRP78 (and not calnexin) during its ER transit. Expression of soluble tyrosinase in calreticulin-deficient cells resulted in the export of soluble tyrosinase of the ER, indicating the calreticulin role in ER retention. Taken together, these data show that OCAI soluble tyrosinase is an ER-associated degradation substrate that, unlike other albino tyrosinases, associates with calreticulin and BiP/GRP78. The lack of specificity for calnexin interaction reveals a novel role for calreticulin in OCAI albinism. PMID:15677452

  16. A case of leucism in the burrowing owl Athene cunicularia (Aves: Strigiformes with confirmation of species identity using cytogenetic analysis

    Directory of Open Access Journals (Sweden)

    Denise M Nogueira

    2011-02-01

    Full Text Available Leucism is an inherited disorder, characterized by the lack of pigments in part or all of the body, normal coloration of the eyes and, in birds, in naked parts such as the bill and legs. This kind of disorder is sometimes erroneously designated as albinism or partial albinism. In this study, we present a case of leucism in a wild owl. The studied individual presented completely white plumage, light-yellow coloration of legs and bill and normal coloration of eyes. According to morphological features, this owl is a specimen of burrowing owl, Athene cunicularia (Molina, 1782. To confirm the species identity, we used cytogenetic analyses for karyotypic determination, comparing it to the previously described one in the literature. We also studied a captive female of A. cunicularia to complement the species karyotype, which was described in the literature based only on a single male. The karyotype of the leucistic owl individual was compatible with the previously published one for A. cunicularia, confirming the bird was a male specimen. Cytogenetic analysis of the captive female showed that the W sex chromosome is metacentric and comparable to the seventh pair in size. This is the first description of a case of leucism in A. cunicularia for South America. Long-term studies are needed in the Neotropical region to evaluate survival and breeding success in leucistic birds.

  17. How does agonistic behaviour differ in albino and pigmented fish?

    Science.gov (United States)

    Horký, Pavel; Wackermannová, Marie

    2016-01-01

    In addition to hypopigmentation of the skin and red iris colouration, albino animals also display distinct physiological and behavioural alterations. However, information on the social interactions of albino animals is rare and has mostly been limited to specially bred strains of albino rodents and animals from unique environments in caves. Differentiating between the effects of albinism and domestication on behaviour in rodents can be difficult, and social behaviour in cave fish changes according to species-specific adaptations to conditions of permanent darkness. The agonistic behaviours of albino offspring of pigmented parents have yet to be described. In this study, we observed agonistic behaviour in albino and pigmented juvenile Silurus glanis catfish. We found that the total number of aggressive interactions was lower in albinos than in pigmented catfish. The distance between conspecifics was also analysed, and albinos showed a tendency towards greater separation from their same-coloured conspecifics compared with pigmented catfish. These results demonstrate that albinism can be associated with lower aggressiveness and with reduced shoaling behaviour preference, as demonstrated by a tendency towards greater separation of albinos from conspecifics. PMID:27114883

  18. Pigmentation, pleiotropy, and genetic pathways in humans and mice

    Energy Technology Data Exchange (ETDEWEB)

    Barsh, G.S. [Stanford Univ., CA (United States)

    1995-10-01

    Some of the most striking polymorphisms in human populations affect the color of our eyes, hair, or skin. Despite some simple lessons from high school biology (blue eyes are recessive; brown are dominant), the genetic basis of such phenotypic variability has, for the most part, eluded Mendelian description. A logical place to search for the keys to understanding common variation in human pigmentation are genes in which defects cause uncommon conditions such as albinism or piebaldism. The area under this lamppost has recently gotten larger, with two articles, one in this issue of the Journal, that describe the map position for Hermansky-Pudlak syndrome (HPS) and with the recent cloning of a gene that causes X-linked ocular albinism (OA1). In addition, a series of three recent articles in Cell demonstrate (1) that defects in the gene encoding the endothelin B (ET{sub B}) receptor cause hypopigmentation and Hirschsprung disease in a Mennonite population and the mouse mutation piebald(s) and (2) that a defect in the edn3 gene, which encodes one of the ligands for the ET{sub B} receptor, causes the lethal spotting (ls) mouse mutation. 47 refs., 1 fig.

  19. Fitness loss and germline mutations in barn swallows breeding in Chernobyl

    Energy Technology Data Exchange (ETDEWEB)

    Ellegren, Hans; Lindgren, Gabriella; Primmer, C.R. [Swedish Univ. of Agricultural Sciences, Animal Breeding and Genetics Dept., Uppsala (Sweden); Moeller, A.P. [Universite Pierre et Marie Curie. Lab. d`Ecologie, Paris, 75 (France)

    1997-10-09

    The severe nuclear accident at Chernobyl in 1986 resulted in the worst reported accidental exposure of radioactive material to free-living organisms. Short-term effects on human populations inhabiting polluted areas include increased incidence of thyroid cancer, infant leukaemia, and congenital malformations in newborns. Two recent studies have reported, although with some controversy, that germline mutation rates were increased in humans and voles living close to Chernobyl, but little is known about the viability of the organisms affected. Here we report an increased frequency of partial albinism, a morphological aberration associated with a loss of fitness, among barn swallows, Hirundo rustica, breeding close to Chernobyl. Heretability estimates indicate that mutations causing albinism were at least partly of germline origin. Furthermore, evidence for an increased germline mutation rate was obtained from segregation analysis at two hypervariable microsatellite loci, indicating that mutation events in barn swallows from Chernobyl were two- to tenfold higher than in birds from control areas in Ukraine and Italy. (author).

  20. Murine and human b locus pigmentation genes encode a glycoprotein (gp75) with catalase activity

    Energy Technology Data Exchange (ETDEWEB)

    Halaban, R.; Moellmann, G. (Yale Univ. School of Medicine, New Haven, CT (USA))

    1990-06-01

    Melanogenesis is regulated in large part by tyrosinase, and defective tyrosinase leads to albinism. The mechanisms for other pigmentation determinants (e.g., those operative in tyrosinase-positive albinism and in murine coat-color mutants) are not yet known. One murine pigmentation gene, the brown (b) locus, when mutated leads to a brown (b/b) or hypopigmentated (B{sup lt}/B{sup lt}) coat versus the wild-type black (B/B). The authors show that the b locus codes for a glycoprotein with the activity of a catalase (catalase B). Only the c locus protein is a tyrosinase. Because peroxides may be by-products of melanogenic activity and hydrogen peroxide in particular is known to destroy melanin precursors and melanin, they conclude that pigmentation is controlled not only by tyrosinase but also by a hydroperoxidase. The studies indicate that catalase B is identical with gp75, a known human melanosomal glycoprotein; that the b mutation is in a heme-associated domain; and that the B{sup lt} mutation renders the protein susceptible to rapid proteolytic degradation.

  1. Differences in MITF gene expression and histology between albino and normal sea cucumbers (Apostichopus japonicus Selenka)

    Institute of Scientific and Technical Information of China (English)

    ZHAO Heling; YANG Hongsheng; ZHAO Huan; LIU Shilin; WANG Tianming

    2012-01-01

    Albino Apostichopus japonicus occur both in the wild and in captivity.The offspring of albino A.japonicus also suffer from albinism.The formation of melanin in the melanocytes is dependant on microphthalmia-associated transcription factor (MITF).To investigate the role of MITF in controlling albinism,we cloned the full-length MITF cDNA from A.japonicus and compared MITF mRNA expression in albino and normal A.japonicus.In addition,we used light and electron microscopy to compare histological samples of normal and albino A.japonicus.The body wall of albino adults was characterized by significantly lower levels of MITF expression and lower numbers of epidermal melanocytes,which also contained less melanin.In albino juvenile offspring,MITF expression levels were significantly lower 32 d after fertilization and there were fewer,and less developed,epidermal melanocytes.Thus,we conclude that albino A.japonicus have fewer melanocytes and a reduced ability to synthesize melanin,likely because of lower expression of MITF.

  2. Efficient dual sgRNA-directed large gene deletion in rabbit with CRISPR/Cas9 system.

    Science.gov (United States)

    Song, Yuning; Yuan, Lin; Wang, Yong; Chen, Mao; Deng, Jichao; Lv, Qingyan; Sui, Tingting; Li, Zhanjun; Lai, Liangxue

    2016-08-01

    The CRISPR RNA-guided Cas9 nuclease gene-targeting system has been extensively used to edit the genome of several organisms. However, most mutations reported to date have been are indels, resulting in multiple mutations and numerous alleles in targeted genes. In the present study, a large deletion of 105 kb in the TYR (tyrosinase) gene was generated in rabbit via a dual sgRNA-directed CRISPR/Cas9 system. The typical symptoms of albinism accompanied significantly decreased expression of TYR in the TYR knockout rabbits. Furthermore, the same genotype and albinism phenotype were found in the F1 generation, suggesting that large-fragment deletions can be efficiently transmitted to the germline and stably inherited in offspring. Taken together, our data demonstrate that mono and biallelic large deletions can be achieved using the dual sgRNA-directed CRISPR/Cas9 system. This system produces no mosaic mutations or off-target effects, making it an efficient tool for large-fragment deletions in rabbit and other organisms. PMID:26817461

  3. Demographic shifts related to mycoheterotrophy and their fitness impacts in two Cephalanthera species.

    Science.gov (United States)

    Shefferson, Richard P; Roy, Mélanie; Püttsepp, Ülle; Selosse, Marc-André

    2016-06-01

    Evolutionary losses of photosynthesis in terrestrial plants all originate in photosynthetic ancestors. The adaptive context under which this transition happens has remained elusive because of the rarity of plants in which both photosynthetic and non-photosynthetic forms exist as a polymorphism. Here, we report on demographic patterns in photosynthetic ("green") and nonphotosynthetic ("albino") individuals within populations of two such species, Cephalanthera damasonium and C. longifolia, which also acquire nutrition from their mycorrhizal hosts (partial mycoheterotrophy). We hypothesized that demographic shifts in albinos relative to greens would include compensatory patterns with respect to fitness, such that maladaptive changes to survival or reproduction would be adaptively countered by changes to other parameters, such as growth probabilities. We tracked individuals in two populations of C. damasonium for 3 yr, and in one population of C. longifolia for 14 yr. We then analyzed vital rates for both phenotypes using general linear mixed models (GLMMs) and multi-state capture mark-recapture models (CMR), and used these models to develop size-classified, function-based population projection matrices. We estimated fitness as the deterministic population growth rate (λ) for each phenotype, and explored the impact of shifts in demographic patterns to albinism via life table response experiments (LTREs). Mortality differed between greens and albinos, but not similarly across species. Albinos generally sprouted less than greens, and flowered more when small but less at other times. Albinos typically had a higher probability of fruiting, although their lower flower numbers yielded lower numbers of fruits overall. Fitness did not differ significantly among phenotypes. Thus, we did not find significant evidence that albinism is adaptive or maladaptive; however, if in fact it is the latter, then we did find evidence of incomplete compensation for declines in survival and

  4. Cloning and expression of astacin gene in albino and normal sea cucumber (Apostichopusjaponicus Selenka)%刺参虾青素基因的克隆及不同体色个体间表达差异的分析

    Institute of Scientific and Technical Information of China (English)

    赵鹤凌; 杨红生; 赵欢; 刘石林

    2012-01-01

    仿刺参(ApostichopusjaponicusSelenka)的体色变化很大,多数背腹均为黄褐色,极少数呈白化特征,背腹均为纯白色。经人工繁育实验发现,白化仿刺参的子代仍多具白化特征。本文研究了虾青素基因与刺参白化特征的相关性。在克隆虾青素基因cDNA全长的基础上,比较了普通仿刺参和白化仿刺参在不同发育时期虾青素基因表达量的差异。结果表明,该基因的cDNA含有2058个核苷酸,编码560个氨基酸。经实时定量PCR分析,白化成参体壁中虾青素基因表达量显著低于普通成参;而在仿刺参色素沉积的早期,白化稚参体壁中虾青素基因表达量从受精后第39天开始显著低于普通稚参。可见,仿刺参体壁中虾青素基因的低表达与刺参白化特征的发生密切相关。%In normal individuals of Apostichopus japonicus, dorsal and ventral surfaces turn yellowish brown in color. However, in albino individuals, little pigment is deposited on their dorsal and ventral surfaces, and the off- spring also suffer from albinism. To investigate the correlation between astacin gene expression and albinism in A. japonicus, we cloned the astacin full-length cDNA of A. japonicus and analyzed the differences of astacin mRNA expression in the adult body wall and juveniles between albino and normal individuals. The full-length cDNA of A. japonicus astacin contained 2058 nucleotides that encodes an astacin protein of 560 amino acids. The real-time PCR analysis showed that astacin expression levels were significantly lower in albino adults compared to normal adults. In A. japonicus juveniles, compared to normal juveniles the astacin expression levels were significantly lower in albino individuals by 39 days after fertilization. We therefore suggest that the albinism in A. japonicus might be due to low astacin expression.

  5. Pigmentary disorders of the eyes and skin.

    Science.gov (United States)

    Que, Syril Keena T; Weston, Gillian; Suchecki, Jeanine; Ricketts, Janelle

    2015-01-01

    Oculocutaneous albinism, Menkes syndrome, tuberous sclerosis, neurofibromatosis type 1, dyskeratosis congenita, lentiginosis profusa syndrome, incontinentia pigmenti, and Waardenburg syndrome all are genodermatoses that have well established gene mutations affecting multiple biological pathways, including melanin synthesis, copper transport, cellular proliferation, telomerase function, apoptosis, and melanocyte biology. Onchocerciasis results from a systemic inflammatory response to a nematode infection. Hypomelanosis of Ito is caused by chromosomal mosaicism, which underlies its phenotypic heterogeneity. Incomplete migration of melanocytes to the epidermis and other organs is the underlying feature of nevus of Ota. Vogt-Koyangi-Harada and vitiligo have an autoimmune etiology; the former is associated with considerable multiorgan involvement, while the latter is predominantly skin-limited. PMID:25704935

  6. Acute exacerbation of combined pulmonary fibrosis and emphysema associated with Hermansky-Pudlak syndrome.

    Science.gov (United States)

    Sugino, Keishi; Gocho, Kyoko; Kikuchi, Naoshi; Shibuya, Kazutoshi; Uekusa, Toshimasa; Homma, Sakae

    2016-03-01

    A 30-year-old male smoker with congenital amblyopia and oculocutaneous albinism was admitted to our hospital complaining of progressive dyspnea on exertion. Chest computed tomography images revealed diffuse reticular opacities and honeycombing in the bilateral lower lobes with sparing of the subpleural region along with emphysema predominantly in the upper lobes. Lung biopsy specimens showed a mixture of usual interstitial pneumonia and a non-specific interstitial pneumonia pattern with emphysema. Of note, cuboidal epithelial cells with foamy cytoplasm on the alveolar walls and phagocytic macrophages with ceroid pigments in the fibrotic lesions were observed. The patient was diagnosed with Hermansky-Pudlak syndrome (HPS) associated with combined pulmonary fibrosis and emphysema (CPFE). Six years following the patient's initial admission to our hospital, he died from acute exacerbation (AE) of CPFE associated with HPS. This is one of only few reports available on the clinicopathological characteristics of AE in CPFE associated with HPS. PMID:26839694

  7. Generation of Hermansky Pudlak syndrome type 2 (HPS2 induced pluripotent stem cells (iPSCs

    Directory of Open Access Journals (Sweden)

    Jean Ann Maguire

    2016-03-01

    Full Text Available Hermansky–Pudlak syndrome type 2 (HPS2 is a rare autosomal recessive disorder resulting from functional mutations in the adaptor-related protein complex 3, beta 1 subunit (AP3B1 gene. This gene plays a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Here we describe the generation of an HPS2 iPS cell line (CHOPHPS2 using a Cre-excisable polycistronic STEMCCA lentivirus. This line was derived from human fibroblasts isolated from a patient carrying two mutations in the AP3B1 gene. The patient presented with severe neutropenia, ocular albinism, interstitial pulmonary fibrosis, hemorrhagic diathesis, and an absence of platelet-dense granules.

  8. Spectral Analysis by XANES Reveals that GPNMB Influences the Chemical Composition of Intact Melanosomes

    Energy Technology Data Exchange (ETDEWEB)

    T Haraszti; C Trantow; A Hedberg-Buenz; M Grunze; M Anderson

    2011-12-31

    GPNMB is a unique melanosomal protein. Unlike many melanosomal proteins, GPNMB has not been associated with any forms of albinism, and it is unclear whether GPNMB has any direct influence on melanosomes. Here, melanosomes from congenic strains of C57BL/6J mice mutant for Gpnmb are compared to strain-matched controls using standard transmission electron microscopy and synchrotron-based X-ray absorption near-edge structure analysis (XANES). Whereas electron microscopy did not detect any ultrastructural changes in melanosomes lacking functional GPNMB, XANES uncovered multiple spectral phenotypes. These results directly demonstrate that GPNMB influences the chemical composition of melanosomes and more broadly illustrate the potential for using genetic approaches in combination with nano-imaging technologies to study organelle biology.

  9. Chronic ulcerative gastroduodenitis as a first gastrointestinal manifestation of Hermansky-Pudlak syndrome in a 1O-year-old child

    Institute of Scientific and Technical Information of China (English)

    Anselm Chi-Wai Lee; Kin-Hung Poon; Wing-Hong Lo; Lap-Gate Wong

    2008-01-01

    A 10-year-old Chinese boy who had a history of congenital thrombocytopathy presented with severe iron deficiency anemia secondary to chronic gastric inflammation and duodenal ulcerations. Subtle oculocutaneous albinism led to the finding of diminished dense bodies in the platelets under electron microscopy,hence the diagnosis of Hermansky-Pudlak syndrome (HPS). Biopsies from the stomach and duodenumrevealed a lymphocytic infiltration in the submucosa,but H pylori infection was absent. The gastroduodenitis responded to the treatment with omeprazole while iron deficiency anemia was corrected by oral iron therapy.HPS is a rare cause of congenital bleeding disorder with multisystemic manifestations. Upper gastrointestinal involvement is rare and should be distinguished from a mere manifestation of the bleeding diathesis.

  10. Genetics for the ophthalmologist

    Directory of Open Access Journals (Sweden)

    Karthikeyan A Sadagopan

    2012-01-01

    Full Text Available The eye has played a major role in human genomics including gene therapy. It is the fourth most common organ system after integument (skin, hair and nails, nervous system, and musculoskeletal system to be involved in genetic disorders. The eye is involved in single gene disorders and those caused by multifactorial etiology. Retinoblastoma was the first human cancer gene to be cloned. Leber hereditary optic neuropathy was the first mitochondrial disorder described. X-Linked red-green color deficiency was the first X-linked disorder described. The eye, unlike any other body organ, allows directly visualization of genetic phenomena such as skewed X-inactivation in the fundus of a female carrier of ocular albinism. Basic concepts of genetics and their application to clinical ophthalmological practice are important not only in making a precise diagnosis and appropriate referral, but also in management and genetic counseling.

  11. Role of the Ubiquitin Proteasome System in Regulating Skin Pigmentation

    Directory of Open Access Journals (Sweden)

    Hideya Ando

    2009-10-01

    Full Text Available Pigmentation of the skin, hair and eyes is regulated by tyrosinase, the critical rate-limiting enzyme in melanin synthesis by melanocytes. Tyrosinase is degraded endogenously, at least in part, by the ubiquitin proteasome system (UPS. Several types of inherited hypopigmentary diseases, such as oculocutaneous albinism and Hermansky-Pudlak syndrome, involve the aberrant processing and/or trafficking of tyrosinase and its subsequent degradation which can occur due to the quality-control machinery. Studies on carbohydrate modifications have revealed that tyrosinase in the endoplasmic reticulum (ER is proteolyzed via ER-associated protein degradation and that tyrosinase degradation can also occur following its complete maturation in the Golgi. Among intrinsic factors that regulate the UPS, fatty acids have been shown to modulate tyrosinase degradation in contrasting manners through increased or decreased amounts of ubiquitinated tyrosinase that leads to its accelerated or decelerated degradation by proteasomes.

  12. Piebaldism in a 3-month-old infant: Case report

    Directory of Open Access Journals (Sweden)

    Milankov Olgica

    2014-01-01

    Full Text Available Introduction. Piebaldism is an autosomal dominant disorder characterized by the congenital absence of melanocytes in the affected areas of skin and hair due to mutations of the KIT protooncogene, which affects the differentiation and migration of melanoblasts. Case report. A 3 ½ month old male infant was admitted to hospital due to depigmentation of skin in the area of forehead, trunk and extremities. On admission, he had multiple, irregularly shaped areas of leucoderma present at the forehead, abdomen, lower legs and left forearm. Based on the characteristic skin features and family history, we diagnosed the boy’s leucoderma as piebaldism. Conclusion. Vitiligo differs from piebaldism by the presence of unstable hypopigmented lesions that are acquired later in life. Albinism presents with widespread skin involvement and lacks the characteristic hyperpigmented macules within hypopigmented areas.

  13. NATATION - French version only

    CERN Document Server

    2002-01-01

    Soyez nombreux à venir à la 17ème édition de GENÈVE NAGE 24 HEURES Du samedi 5 octobre, 14 heures au dimanche 6 octobre, 14 heures à la piscine des Vernets Chaque participant peut nager la longueur qu'il souhaite. Un classement d'entreprise est possible en vous inscrivant dans la catégorie « entreprise » sous le nom « CERN ». L'année dernière, le CERN avait obtenu la seconde place. Moyennant une plus grande participation, le CERN pourrait décrocher la première place cette année. Inscription gratuite à l'entrée de la piscine. Pour plus d'informations : Gino De Bilio, tél 7362 - Albin Wasem, tél 75865 - Catherine Delamare, tél 76085

  14. Spontaneous changes a basis for new ornamental woody plant cultivars

    Directory of Open Access Journals (Sweden)

    Đukić Matilda

    2006-01-01

    Full Text Available In nursery stock production of some ornamental woody plants the appearance of spontaneous variability was identified in the form of atypical pigmentation of leaves (albinism, variegated, red colored, leaves shape (jaggy and dwarfs. Mutated plants with variegated leaves were observed among hybrid plane (Platanus x acerifolia (Ait. Willd., Siberian elm (Ulmus pumila L., laurel cherry (Prunus laurocerasus L. and Lawson false-cypress (Chamaecyparis lawsoniana (Murr. Parl. Seedlings. The type of variegation and frequency were analyzed. Among plane tree and Siberian elm seedlings there were observed red colored leaves. Atypical, jaggy shaped leaves were found among laurel cherry seedlings. Dwarf growth was identified at Siberian elm and birch (Betula pendula Roth. where also found fruits at one year seedling. There were not significant differences in some morphological and physiological properties in plane tree seedlings with various pigmented leaves. .

  15. Nystagmus in Laurence-Moon-Biedl Syndrome

    Directory of Open Access Journals (Sweden)

    A. Bruce Janati

    2015-01-01

    Full Text Available Introduction. Laurence-Moon-Biedl (LMB syndrome is a rare autosomal-recessive ciliopathy with manifold symptomatology. The cardinal clinical features include retinitis pigmentosa, obesity, intellectual delay, polydactyly/syndactyly, and hypogenitalism. In this paper, the authors report on three siblings with Laurence-Moon-Biedl syndrome associated with a probable pseudocycloid form of congenital nystagmus. Methods. This was a case study conducted at King Khaled Hospital. Results. The authors assert that the nystagmus in Laurence-Moon-Biedl syndrome is essentially similar to idiopathic motor-defect nystagmus and the nystagmus seen in optic nerve hypoplasia, ocular albinism, and bilateral opacities of the ocular media. Conclusion. The data support the previous hypothesis that there is a common brain stem motor abnormality in sensory-defect and motor-defect nystagmus.

  16. A new region of conservation is defined between human and mouse X chromosomes

    Energy Technology Data Exchange (ETDEWEB)

    Dinulos, M.B.; Disteche, C.M. [Univ. of Washington, Seattle, WA (United States); Bassi, M.T. [Univ. of Siena (Italy)] [and others

    1996-07-01

    Comparative mapping of the X chromosome in eutherian mammals have revealed distinct regions of conservation as well as evolutionary rearrangements between human and mouse. Recently, we and others mapped the murine homologue of CLCN4 (Chloride channel 4) to band F4 of the X chromosome in Mus spretus but to chromosome 7 in laboratory strains. We now report the mapping of the murine homologues of APXL (Apical protein Xenopus laevis-like) and OA1 (Ocular albinism type I), two genes that are located on the human X chromosome at band p22.3 and in close proximity to CLCN4. Interestingly, Oa1 and Apxl map to bands F2-F3 in both M. spretus and the laboratory strain C57BL/6J, defining a new rearrangement between human and mouse X chromosomes. 17 refs., 2 figs., 1 tab.

  17. Organization and sequence of the human P gene and identification of a new family of transport proteins

    Energy Technology Data Exchange (ETDEWEB)

    Lee, S.T.; Fukai, K.; Spritz, R.A. [Univ. of Wisconsin School of Medicine, Madison, WI (United States)] [and others

    1995-03-20

    We have determined the structure, nucleotide sequence, and polymorphisms of the human P gene. Mutations of the P gene result in type H oculocutaneous albinism (OCA2) in humans and pink-eyed dilution (p) in mice. We find that the human P gene is quite large, consisting of 25 exons spanning 250 to 600 kb in chromosome segment 15q11-q13. The P polypeptide appears to define a novel family of small molecule transporters and may be involved in transport of tyrosine, the precursor to melanin synthesis, within the melanocyte. These results provide the basis for analyses of patients with OCA2 and may point toward eventual pharmacologic treatment of this and related disorders of pigmentation. 40 refs., 5 figs., 3 tabs.

  18. [二十世纪法国著名出版商之三]阿尔班·米歇尔

    Institute of Scientific and Technical Information of China (English)

    于平安

    2005-01-01

    @@ 小个子、肌肉结实、圆脸,一双炯炯有神、狡黠的眼睛,满脸的胡子,嘴里经常叼着一支香烟,头戴一顶圆顶礼帽,手拿一根手杖,这就是阿尔班·米歇尔(Albin MICHEL 1873-1943).米歇尔先生(人们是这样称呼他的)什么都管,从审阅书稿到管理人员,他把了版社看作是一个人的身体,什么都要关照到.

  19. Isolamento reprodutivo entre Australorbis glabratus e A. nigricans Reproductive isolation between Australorbis glabratus and A. nigricans

    Directory of Open Access Journals (Sweden)

    W. Lobato Paraense

    1955-12-01

    Full Text Available Foram feitas provas de cruzamento entre espécimes de uma população de A. glabratus e de outra de A. nigricans, utilizando o fator de albinismo como mercador genético. O resultado dessas provas revelou completo isolamento reprodutivo entre ambas, permitindo separá-las como boas espécies de acôrdo com o critério biológico.Crossing experiments were made between specimens from one population of A. glabratus and another of A. nigricans, the factor of albinism having been used as genetic marker. The results of those experiments revealed a complete reproductive isolation between both population, thus indicating their specific distinctness according to the biological criterion.

  20. Oral and dental findings of griscelli syndrome type 3

    Directory of Open Access Journals (Sweden)

    Ozlem Marti Akgun

    2015-09-01

    Full Text Available Griscelli syndrome (GS is a rare autosomal recessive genetic disorder characterized by variable immunodeficiency, partial albinism, abnormal accumulation of melanosomes in melanocytes, pigmentary dilution of the skin, and shiny silver-gray hair. GS has three types, with the first and second types caused by mutations in two genes being located at band 15q21: RAB27A and MYO5A. The expression of the third form of GS is restricted to the characteristic hypopigmentation of GS, and results from mutation in the gene that encodes melanophilin MLPH. It has also been shown that an identical phenotype can result from the deletion of the MYO5A F-exon. The aim of this case report is the presentation of oral and dental features and SEM images of the hair of a 12-year-old girl with GS type 3. [Arch Clin Exp Surg 2015; 4(3.000: 164-167

  1. 白化病视觉诱发电位检查的研究进展

    Institute of Scientific and Technical Information of China (English)

    洪学军; 郑辉; 李洪义

    2011-01-01

    @@ 白化病(Albinism)是一组与黑色素合成、分解有关的基因突变而导致的以眼、皮肤、毛发黑色素缺失为临床特征的遗传性疾病.临床上通常根据黑色素缺乏的部位及有无其他系统异常,分为三型;即眼白化病(仅有眼部黑色素的缺失)、眼皮肤白化病(同时存在眼、全身皮肤及毛发的黑色素缺失)和白化病相关综合征(除眼、皮肤、毛发黑色素缺失外,还伴有其他系统的异常).

  2. Chediak Higashi Syndrome masquerading as acute leukemia / storage disorder - A rare case report

    Directory of Open Access Journals (Sweden)

    Mirza Asif Baig

    2015-07-01

    CHS is characterised by partial oculocutaneous albinism, frequent fatal bacterial infections, bleeding diathesis and peripheral + Cranial nerve palsies. This disorder further culminates into accelerated phase (Lymphoproliferative Syndrome progressing into pancytopenia. CHS is due to single gene mutation in LYST (CHS gene localized to 1q chromosome. The diagnostic hallmark of CHS is presence of giant purple to blue violet inclusions in leucocytes. In this study granules are more prominent in Bone marrow than in PBS correlating well with previous studies. Approximately 85% of the cases, of CHS culminates into Accelerated phase showing Lymphohistiocytic infiltration progressing to pancytopenia and death due to infection. The very rare nature of this disease and its grave prognosis merits its reporting. [Int J Res Med Sci 2015; 3(7.000: 1785-1787

  3. 眼皮肤白化病常见亚型的基因与基因突变

    Institute of Scientific and Technical Information of China (English)

    李洪义; 吴维青; 郑辉

    2004-01-01

    白化病(albinism)是一组由黑素合成相关的基因突变导致眼或眼、皮肤、毛发黑色素缺乏引起的遗传性疾病。受累个体相应部位颜色浅淡或缺如,发育过程中眼部黑色素的缺乏又可导致视网膜中央小凹发育不良、视神经通路异常,出现眼球震颤、斜视、视力低下等。皮肤缺乏色素的保护,对紫外线敏感.易于患皮肤癌。全身各部位均有色素缺乏的称为

  4. Silvery Hair with Speckled Dyspigmentation: Chediak-Higashi Syndrome in Three Indian Siblings.

    Science.gov (United States)

    Raghuveer, Chekuri; Murthy, Sambasiviah Chidambara; Mithuna, Mallur N; Suresh, Tamraparni

    2015-01-01

    Silvery hair is a common feature of Chediak-Higashi syndrome (CHS), Griscelli syndrome, and Elejalde syndrome. CHS is a rare autosomal recessive disorder characterized by partial oculocutaneous albinism, frequent pyogenic infections, and the presence of abnormal large granules in leukocytes and other granule containing cells. A 6-year-old girl had recurrent respiratory infections, speckled hypo- and hyper-pigmentation over exposed areas, and silvery hair since early childhood. Clinical features, laboratory investigations, hair microscopy, and skin biopsy findings were consistent with CHS. Her younger sisters aged 4 and 2 years had similar clinical, peripheral blood picture, and hair microscopy findings consistent with CHS. This case is reported for its rare occurrence in all the three siblings of the family, prominent pigmentary changes, and absent accelerated phase till date. Awareness, early recognition, and management of the condition may prevent the preterm morbidity associated. PMID:26622160

  5. Vici syndrome associated with sensorineural hearing loss and laryngomalacia.

    Science.gov (United States)

    Ozkale, Murat; Erol, Ilknur; Gümüş, Ayten; Ozkale, Yasemin; Alehan, Füsun

    2012-11-01

    The phenotypically heterogeneous, autosomal recessive Vici syndrome was first described in 1988 in a sister and brother with oculocutaneous albinism, agenesis of the corpus callosum, cataract, cardiomyopathy, cleft lip, and immunodeficiency. Only 14 cases of Vici syndrome have yet been reported, several involving morphologic and functional defects in addition to those described in the initial case. We report on a 3-month-old Turkish girl with Vici syndrome associated with laryngomalacia, further expanding the clinical spectrum. We also review clinical features in all 15 Vici syndrome patients, to distinguish general from less common signs. To the best of our knowledge, this report is the first of a Turkish patient with Vici syndrome. PMID:23044023

  6. Simple and efficient CRISPR/Cas9-mediated targeted mutagenesis in Xenopus tropicalis.

    Science.gov (United States)

    Nakayama, Takuya; Fish, Margaret B; Fisher, Marilyn; Oomen-Hajagos, Jamina; Thomsen, Gerald H; Grainger, Robert M

    2013-12-01

    We have assessed the efficacy of the recently developed CRISPR/Cas (clustered regularly interspaced short palindromic repeats/CRISPR-associated) system for genome modification in the amphibian Xenopus tropicalis. As a model experiment, targeted mutations of the tyrosinase gene were verified, showing the expected albinism phenotype in injected embryos. We further tested this technology by interrupting the six3 gene, which is required for proper eye and brain formation. Expected eye and brain phenotypes were observed when inducing mutations in the six3 coding regions, as well as when deleting the gene promoter by dual targeting. We describe here a standardized protocol for genome editing using this system. This simple and fast method to edit the genome provides a powerful new reverse genetics tool for Xenopus researchers.

  7. Mosaic supernumerary inv dup(15) chromosome with four copies of the P gene in a boy with pigmentary dysplasia.

    Science.gov (United States)

    Akahoshi, Keiko; Spritz, Richard A; Fukai, Kazuyoshi; Mitsui, Norimasa; Matsushima, Kazushige; Ohashi, Hirofumi

    2004-04-30

    Association of the pink-eye-dilution gene (P) with hypopigmentation is seen in patients who have oculocutaneous albinism type 2 (OCA2) and Prader-Willi syndrome (PWS) or Angelman syndrome (AS). However, it remains unknown whether duplication or amplification of the P gene causes hyperpigmentation. We previously reported a woman who had hyperpigmentation with a duplication of the proximal part of 15q, including the P gene. Here, we describe an additional patient with mosaicism of inv dup(15) and clinical manifestations of severe psychmoter retardation, epilepsy, and pigmentary dysplasia showing mottled and linear patterns of hyperpigmentation. His karyotype was 47,XY,+idic(15)(pter-->q14::q14-->pter)[38]/46,XY[12] de novo. Chromosomal fluorescence in situ hybridization (FISH) showed six copies of the P gene. Therefore, his cutaneous mosaicism might be caused by the presence of both normal and hyperpigmented skin due to multicopies of the P gene.

  8. Genetics in Ophthalmology III – Posterior Segment Diseases

    Directory of Open Access Journals (Sweden)

    Canan Aslı Utine

    2012-10-01

    Full Text Available Genetic diseases are congenital or acquired hereditary diseases that result from structural/functional disorders of the human genome. Today, the genetic factors that play a role in many diseases are being highlighted with the rapid progress in the field of genetics science. It becomes increasingly important that physicians from all disciplines have knowledge about the basic principles of genetics, patterns of inheritance, etc., so that they can follow the new developments. In genetic eye diseases, ophthalmologists should know the basic clinical and recently rapidly developing genetic characteristics of these diseases in order to properly approach the diagnosis and treatment and to provide genetic counseling. In this paper, posterior segment eye diseases of genetic origin are reviewed, and retinoblastoma, mitochondrial diseases, retinal dysplasia, retinitis pigmentosa, choroideremia, gyrate atrophy, Alström disease, ocular albinism, optic nerve hypoplasia, anophthalmia/microphthalmia and Leber’s congenital amaurosis are covered. (Turk J Ophthalmol 2012; 42: 386-92

  9. Visit of Ambassadors from Latin America, Portugal and Spain to SM18.

    CERN Multimedia

    Patrice Loïez

    2002-01-01

    Left to right: Prof. Juan Antonio Rubio, Head of the Education and Technology Transfer Division; H.E. Mr Gustavo Albin, Ambassador, Permanent Representative of Mexico in Geneva; H.E. Mr Joaquìn Pérez-Villanueva y Tovar, Ambassador, Permanent Representative of Spain in Geneva; H.E. Mr Alvaro de Mendonça e Moura, Ambassador, Permanent Representative of Portugal in Geneva, Dr Norbert Siegel, Insertion, Correctors and Protection Group, LHC division; H.E. Mr Juan Enrique Vega, Ambassador, Permanent Representative of Chile in Geneva; Mr Rodrigo Espinosa, Counsellor, Permanent Mission of Chile in Geneva; H.E. Mr Horacio Emilio Solari, Ambassador, Permanent Representative of the Republic of Argentina in Geneva; Dr John Ellis, Adviser for Non-Member State Relations and Mr Enrique Ochoa, Third Secretary, Permanent Mission of Mexico in Geneva.

  10. Suitable gamma ray dose determination in order to induce genetic variation in kaboli chickpea (Cicer Arietinum L)

    International Nuclear Information System (INIS)

    In spite of chickpea's use in Iran and its ability of being replaced to adjust the shortage of protein in dietary habits, yield production is very low. One of the main reasons for chickpea's low yield production is its sensitiveness to some diseases, pest and environmental stresses. Genetic variation in chickpea is very low, because of its self pollination. In breeding programs, genetic variation plays an essential role so that the induction of genetic variation in plant population is very important for the plant breeders. The induced mutation through different kinds of mutagens is one of the important ways of genetic variation. In this research, first the sensitiveness of four cultivars (ILC.486, Philip86, Bivinich, Jam) were assessed to different gamma ray doses (100, 200, 300, 400 Gy). The results showed that with an increase in gamma ray dose, the growth rate of chickpea's genotypes decreases. In this respect, the decrease of growth rate has a linear relationship with the gamma ray dose and it is independent from the genotypes. The root length is more sensitive to gamma ray doses than its shoot, and it was observed that at the low doses the root growth decreases, comparing to the shoot growth. On the other hand, in high doses of gamma ray growth abrasion (Ageotropism, Albinism and etc.) were observed. Some traits variation (such as leaf shape, leaf size, leaf color, Albinism, etc.) were seen in M2 generation, and finally to continue the project, three doses of gamma ray (150,200,250) were selected for the next year

  11. Clinico-hematological profile of Chediak-Higashi syndrome: Experience from a tertiary care center in south India

    Directory of Open Access Journals (Sweden)

    Arun Roy

    2011-01-01

    Full Text Available Introduction: Chediak-Higashi syndrome (CHS is a rare autosomal recessive disorder characterized by partial ocular and cutaneous albinism, increased susceptibility to pyogenic infections, the presence of large lysosomal-like organelles in most granule-containing cells and a bleeding tendency. The abnormal granules are most readily seen in blood and marrow leukocytes, especially granulocytes; and in melanocytes. Other clinical features include silvery hair, photophobia, horizontal and rotatory nystagmus and hepatosplenomegaly. Materials and Methods: The clinico-hematological profile of a series of 5 cases of CHS encountered at JIPMER Hospital with diagnostic work-up done in the Department of Pathology over the last 6 years is presented. The diagnostic work-up included complete hemogram with peripheral smear, bone marrow examination, skin and liver biopsies. Results: The age of the patients ranged from 5 months to 3 years. All patients had silvery hair and partial albinism and presented with fever and recurrent chest infection. Two patients were stable. Three patients were in accelerated phase; of them, 1 patient with associated hemophagocytic syndrome had a rapidly fulminant course. Peripheral blood smear showed anomalously large granules in the leukocytes. Skin biopsy showed sparse, coarse melanin pigment in the epidermis, and liver biopsy done in 2 patients with accelerated phase showed portal lymphohistiocytic aggregates. Conclusions: The diagnostic hallmark of CHS is the occurrence of giant inclusion bodies (granules in the peripheral leukocyte and their bone marrow precursors. The case series is being presented because of the rarity of CHS and varied spectrum of clinical and hematological presentation.

  12. Cutaneous metabolic pathway of tyrosine as a precursor to melanin in Asinara’s white donkey, Equus asinus L., 1758

    Directory of Open Access Journals (Sweden)

    Maria Grazia Cappai

    2015-10-01

    Full Text Available L-tyrosine (L-Tyr is a conditionally indispensable amino acid for Equids. The biologic role of L-Tyr is ubiquitous, being involved in the production of hair and skin pigments. The white donkeys of Asinara island display a peculiar white coat, with life-long hypopigmentation of skin, hairs and eyes. Our results underline how the white phenotype is due to a disorder of melanin biosynthesis, detected in skin biopsies and on hair bulbs through immunohistochemical and enzymatic assays. The metabolic pathway of L-Tyr is compatible with the clinical frame of ocular-cutaneous albinism (OCA. The enzymatic activity in hair bulbs for the conversion of L-Tyr to L-3,4-dihydroxyphenilalanine (L-DOPA tested negative, but positive for L-DOPA conversion into eumelanin in the 100% of the Asinara’s white donkey. This is the case of a negative-tyrosinase albinism, which contemporarily excludes dietary deficiencies of phenylalanine (Phe or L-Tyr and potential incapability of Tyr intestinal uptake or Tyr conversion from Phe. The tyrosinase (TYR residual activity positively and significantly (P=0.012 correlates (P=0.897 with the albino phenotype of the Asinara’s white donkey. These results definitely point to the fact that Asinara’s white donkey population owes its phenotype to TYR residual activity, thus on genetic basis. From a comparative point of view, the albino form of the Asinara’s white donkeys is similar to the human OCA type 1, from which however differs for positively testing to L-DOPA conversion, upon incubation of hair bulbs in L-DOPA solutions.

  13. Anomalous colour in Neotropical mammals: a review with new records for Didelphis sp. (Didelphidae, Didelphimorphia) and Arctocephalus australis (Otariidae, Carnivora).

    Science.gov (United States)

    Abreu, M S L; Machado, R; Barbieri, F; Freitas, N S; Oliveira, L R

    2013-02-01

    Anomalous colourations occur in many tropical vertebrates. However, they are considered rare in wild populations, with very few records for the majority of animal taxa. We report two new cases of anomalous colouration in mammals. Additionally, we compiled all published cases about anomalous pigmentation registered in Neotropical mammals, throughout a comprehensive review of peer reviewed articles between 1950 and 2010. Every record was classified as albinism, leucism, piebaldism or eventually as undetermined pigmentation. As results, we report the new record of a leucistic specimen of opossum (Didelphis sp.) in southern Brazil, as well as a specimen of South American fur seal (Arctocephalus australis) with piebaldism in Uruguay. We also found 31 scientific articles resulting in 23 records of albinism, 12 of leucism, 71 of piebaldism and 92 records classified as undetermined pigmentation. Anomalous colouration is apparently rare in small terrestrial mammals, but it is much more common in cetaceans and michrochiropterans. Out of these 198 records, 149 occurred in cetaceans and 30 in bats. The results related to cetaceans suggest that males and females with anomolous pigmentation are reproductively successful and as a consequence their frequencies are becoming higher in natural populations. In bats, this result can be related to the fact these animals orient themselves primarily through echolocation, and their refuges provide protection against light and predation. It is possible that anomalous colouration occurs more frequently in other Neotropical mammal orders, which were not formally reported. Therefore, we encourage researchers to publish these events in order to better understand this phenomenon that has a significant influence on animal survival. PMID:23644801

  14. A novel role for Mc1r in the parallel evolution of depigmentation in independent populations of the cavefish Astyanax mexicanus.

    Directory of Open Access Journals (Sweden)

    Joshua B Gross

    2009-01-01

    Full Text Available The evolution of degenerate characteristics remains a poorly understood phenomenon. Only recently has the identification of mutations underlying regressive phenotypes become accessible through the use of genetic analyses. Focusing on the Mexican cave tetra Astyanax mexicanus, we describe, here, an analysis of the brown mutation, which was first described in the literature nearly 40 years ago. This phenotype causes reduced melanin content, decreased melanophore number, and brownish eyes in convergent cave forms of A. mexicanus. Crosses demonstrate non-complementation of the brown phenotype in F(2 individuals derived from two independent cave populations: Pachón and the linked Yerbaniz and Japonés caves, indicating the same locus is responsible for reduced pigmentation in these fish. While the brown mutant phenotype arose prior to the fixation of albinism in Pachón cave individuals, it is unclear whether the brown mutation arose before or after the fixation of albinism in the linked Yerbaniz/Japonés caves. Using a QTL approach combined with sequence and functional analyses, we have discovered that two distinct genetic alterations in the coding sequence of the gene Mc1r cause reduced pigmentation associated with the brown mutant phenotype in these caves. Our analysis identifies a novel role for Mc1r in the evolution of degenerative phenotypes in blind Mexican cavefish. Further, the brown phenotype has arisen independently in geographically separate caves, mediated through different mutations of the same gene. This example of parallelism indicates that certain genes are frequent targets of mutation in the repeated evolution of regressive phenotypes in cave-adapted species.

  15. Comparative analysis of transcriptomes from albino and control sea cucumbers,Apostichopus japonicus

    Institute of Scientific and Technical Information of China (English)

    MA Deyou; YANG Hongsheng; SUN Lina; XU Dongxue

    2014-01-01

    The sea cucumberApostichopus japonicus is an important economic species in China. Its dorsal body wall color is commonly tawny, whereas its ventral surface is fawn. Albino sea cucumbers are rarely observed. In order to profile gene expression and screen albinism-related genes, we compared the transcriptome of albino samples with a control by 454 cDNA sequencing. We found that 6 539 identified genes on the basis of sequence similarity to known genes were expressed in the albino A. japonicus. The gene ontology analysis indicated that the transcription of genes associated with the terms of biological regulation and pigmenta-tion was non-abundant in the albino library compared to the control. Based on an analysis using the Kyoto Encyclopedia of Genes and Genomics (KEGG) database, we identified 14 important genes that were in-volved in major intercellular signaling pathways related to melanin synthesis, such as tyrosine metabolism, the mitogen-activated protein kinase (MAPK) pathway, and melanogenesis. The expressions of fibroblast growth factor receptor 4 (FGFR4), protein kinase C (PKC), protein kinase A (PKA), and Ras genes were sig-nificantly down-regulated in the albino transcriptome compared with the control, while the expressions of homogentisate 1, 2-dioxygenase gene (HGO), cAMP-responsive element binding protein (CREB), transcrip-tion factor AP-1(c-jun), and calmodulin (CaM) were significantly up-regulated (Fisher's exact test,p < 0.05). These differentially expressed genes could be candidate genes for revealing the mechanism of albinism and investigating regulation of melanin synthesis inA. japonicus.

  16. 大菱鲆子二代家系白化与正常幼鱼生长及形态学差异%Growth and morphology of albino and normal F2 juveniles from different families of turbot Scophthalmus maximus

    Institute of Scientific and Technical Information of China (English)

    关健; 郑永允; 刘洪军; 官曙光; 张全启; 雷霁霖

    2011-01-01

    白化现象是大菱鲆(Scophthalmus maximus)生产中存在的主要问题之一.2009年,采用大菱鲆育种标准化苗种培育方案培育大菱鲆子二代全同胞家系32个,选取其中白化较为严重的16个全同胞家系(包括6对半同胞家系组合)作为样本家系,抽样测定统计各家系85日龄(dph)幼鱼的形态指标,比较了各全同胞家系白化和正常鱼的形态特征,以及全同胞家系间生长的差异.大菱鲆幼鱼体色分为完全正常、局部白化和完全白化3个类型,白化率统计时将部分白化幼鱼归于白化幼鱼一类.16个全同胞家系的白化率处于17.2%~86.7%范围内,6对半同胞家系组合的白化率差别较大,姊妹家系间白化率差值0 ~ 46%,因此认为白化可能受到母系遗传或卵子质量的影响.多数家系的白化与正常幼鱼的全长、体长、总高、体高、全重差异不显著(P>0.05).16个全同胞家系样本中,除2个家系外,其余家系的白化与体色正常鱼的可比性状差异不显著(p>0.05).将各全同胞家系抽样的全部90尾鱼的全重平均值作为指标进行比较,发现全重的生长差异在全同胞家系间表现较为明显.因此,白化鱼与原色鱼的生长和身体形态整体上不存在显著差异.本研究还获得速生候选家系1个,高体型候选家系3个.根据研究结果分析大菱鲆白化现象发生的原因,认为虽然遗传不是大菱鲆白化与否的决定因素,但却是一个重要因素.%Albinism has a significant effect on the market value of cultured turbot Scophthalmus maximus. We investigated the causes of albinism in cultured turbot by constructing 32 full-sib turbot families using standardized larval-rearing in 2009. We measured weight and documented the morphology of 16 full-sib families (including 6 pairs of half-sib families) with higher rates of albinism 85 days post hatching (dph). We compared the morphology of albino juveniles and normal juveniles in every

  17. Construction and Preliminary Analysis of Subtractive Library for Cricetulus Barabensis with Albino Mutant%黑线仓鼠白化突变系抑制差减文库的构建及初步分析

    Institute of Scientific and Technical Information of China (English)

    李爱学; 曾林; 尚世臣; 王鹏; 姚晓兰; 孙兆增

    2013-01-01

    目的 构建黑线仓鼠白化突变系的抑制差减文库,分离获得黑线仓鼠发生被毛突变的相关基因片段,并进行初步分析.方法 以黑线仓鼠作为实验组(tester),以其白化突变系作为驱动组(driver),采用抑制差减杂交技术构建差减文库(SSH).对阳性克隆进行测序并分析.结果 共获得126个有生物学意义的表达序列标签(ESTs),包括21个骨架蛋白,42个转录因子,24个代谢酶基因,25个转运分子及其调节蛋白和4个未知基因.差异基因中没有发现常见的白化疾病相关基因,发现多种与溶酶体的形成及内吞作用相关的基因,推测黑线仓鼠白化突变性状的产生可能与黑色素的运输障碍有关.结论 成功构建了黑线仓鼠白化突变的抑制差减文库,获得126个白化突变的相关基因,为进一步寻找白化突变相关基因,揭示其分子机制奠定了基础.%Objective To construct the subtractive library for Cricetulus barabensis and its albino mutant and preliminarily analyse the obtained gene fragments that related to the hair mutation of Cricetulus barabensis. Methods The Cricetulus barabensis was used as tester and its albino mutant was used as driver, the subtractive Library was constructed by suppression subtractive hybridization (SSH) method. The positive clones was sequenced and analyzed. Results 126 Expressed sequence tags (ESTs) was obtained including 21 skeleton proteins, 42 transcription factors, 24 genes of metabolic enzymes, 25 transport factors and their regulators, and 4 genes of unknown. Not the common genes related to albinism but several kinds of genes related to the formation and endocytosis of lysosomes were found in the differentially expressed genes, suggesting that the production of albinism of Cricetulus barabensis may relate to the disfunction of transportation. Conclusion The subtractive library for Cricetulus barabensis and its albino mutant was successfully constructed and 126 ESTs was

  18. Skin cancers among Albinos at a University teaching hospital in Northwestern Tanzania: a retrospective review of 64 cases

    Directory of Open Access Journals (Sweden)

    Mabula Joseph B

    2012-06-01

    Full Text Available Abstract Background Skin cancers are a major risk associated with albinism and are thought to be a major cause of death in African albinos. The challenges associated with the care of these patients are numerous and need to be addressed. The aim of this study was to outline the pattern and treatment outcome of skin cancers among albinos treated at our centre and to highlight challenges associated with the care of these patients and proffer solutions for improved outcome. Methods This was a retrospective study of all albinos with a histopathological diagnosis of skin cancer seen at Bugando Medical Centre from March 2001 to February 2010. Data collected were analyzed using descriptive statistics. Results A total of 64 patients were studied. The male to female ratio was 1.5:1. The median age of patients was 30 years. The median duration of illness at presentation was 24 months. The commonest reason for late presentation was financial problem. Head and the neck was the most frequent site afflicted in 46(71.8% patients. Squamous cell carcinoma was the most common histopathological type in 75% of cases. Surgical operation was the commonest modality of treatment in 60 (93.8% patients. Radiotherapy was given in 24(37.5% patients. Twenty-seven (42.2% of the patients did not complete their treatment due to lack of funds. Local recurrence following surgical treatment was recorded in 6 (30.0% patients. Only thirty-seven (61.7% patients were available for follow-up at 6–12 months and the remaining patients were lost to follow-up. Conclusions Skin cancers are the most common cancers among albinos in our environment. Albinism and exposure to ultraviolet light appears to be the most important risk factor in the development of these cancers. Late presentation and failure to complete treatment due to financial difficulties and lack of radiotherapy services at our centre are major challenges in the care of these patients. Early institution of preventive

  19. Specific interaction of Gαi3 with the Oa1 G-protein coupled receptor controls the size and density of melanosomes in retinal pigment epithelium.

    Directory of Open Access Journals (Sweden)

    Alejandra Young

    Full Text Available BACKGROUND: Ocular albinism type 1, an X-linked disease characterized by the presence of enlarged melanosomes in the retinal pigment epithelium (RPE and abnormal crossing of axons at the optic chiasm, is caused by mutations in the OA1 gene. The protein product of this gene is a G-protein-coupled receptor (GPCR localized in RPE melanosomes. The Oa1-/- mouse model of ocular albinism reproduces the human disease. Oa1 has been shown to immunoprecipitate with the Gαi subunit of heterotrimeric G proteins from human skin melanocytes. However, the Gαi subfamily has three highly homologous members, Gαi1, Gαi2 and Gαi3 and it is possible that one or more of them partners with Oa1. We had previously shown by in-vivo studies that Gαi3-/- and Oa1-/- mice have similar RPE phenotype and decussation patterns. In this paper we analyze the specificity of the Oa1-Gαi interaction. METHODOLOGY: By using the genetic mouse models Gαi1-/-, Gαi2-/-, Gαi3-/- and the double knockout Gαi1-/-, Gαi3-/- that lack functional Gαi1, Gαi2, Gαi3, or both Gαi1 and Gαi3 proteins, respectively, we show that Gαi3 is critical for the maintenance of a normal melanosomal phenotype and that its absence is associated with changes in melanosomal size and density. GST-pull-down and immunoprecipitation assays conclusively demonstrate that Gαi3 is the only Gαi that binds to Oa1. Western blots show that Gαi3 expression is barely detectable in the Oa1-/- RPE, strongly supporting a previously unsuspected role for Gαi3 in melanosomal biogenesis. CONCLUSION: Our results identify the Oa1 transducer Gαi3 as the first downstream component in the Oa1 signaling pathway.

  20. Forkhead containing transcription factor Albino controls tetrapyrrole-based body pigmentation in planarian.

    Science.gov (United States)

    Wang, Chen; Han, Xiao-Shuai; Li, Fang-Fang; Huang, Shuang; Qin, Yong-Wen; Zhao, Xian-Xian; Jing, Qing

    2016-01-01

    Pigmentation processes occur from invertebrates to mammals. Owing to the complexity of the pigmentary system, in vivo animal models for pigmentation study are limited. Planarians are capable of regenerating any missing part including the dark-brown pigments, providing a promising model for pigmentation study. However, the molecular mechanism of planarian body pigmentation is poorly understood. We found in an RNA interference screen that a forkhead containing transcription factor, Albino, was required for pigmentation without affecting survival or other regeneration processes. In addition, the body color recovered after termination of Albino double stranded RNA feeding owing to the robust stem cell system. Further expression analysis revealed a spatial and temporal correlation between Albino and pigmentation process. Gene expression arrays revealed that the expression of three tetrapyrrole biosynthesis enzymes, ALAD, ALAS and PBGD, was impaired upon Albino RNA interference. RNA interference of PBGD led to a similar albinism phenotype caused by Albino RNA interference. Moreover, PBGD was specifically expressed in pigment cells and can serve as a pigment cell molecular marker. Our results revealed that Albino controls planarian body color pigmentation dominantly via regulating tetrapyrrole biogenesis. These results identified Albino as the key regulator of the tetrapyrrole-based planarian body pigmentation, suggesting a role of Albino during stem cell-pigment cell fate decision and provided new insights into porphyria pathogenesis. PMID:27551436

  1. Occurrence of nodular lymphocyte-predominant hodgkin lymphoma in hermansky-pudlak type 2 syndrome is associated to natural killer and natural killer T cell defects.

    Directory of Open Access Journals (Sweden)

    Luisa Lorenzi

    Full Text Available Hermansky Pudlak type 2 syndrome (HPS2 is a rare autosomal recessive primary immune deficiency caused by mutations on β3A gene (AP3B1 gene. The defect results in the impairment of the adaptor protein 3 (AP-3 complex, responsible for protein sorting to secretory lysosomes leading to oculo-cutaneous albinism, bleeding disorders and immunodeficiency. We have studied peripheral blood and lymph node biopsies from two siblings affected by HPS2. Lymph node histology showed a nodular lymphocyte predominance type Hodgkin lymphoma (NLPHL in both HPS2 siblings. By immunohistochemistry, CD8 T-cells from HPS2 NLPHL contained an increased amount of perforin (Prf + suggesting a defect in the release of this granules-associated protein. By analyzing peripheral blood immune cells we found a significant reduction of circulating NKT cells and of CD56(brightCD16(- Natural Killer (NK cells subset. Functionally, NK cells were defective in their cytotoxic activity against tumor cell lines including Hodgkin Lymphoma as well as in IFN-γ production. This defect was associated with increased baseline level of CD107a and CD63 at the surface level of unstimulated and IL-2-activated NK cells. In summary, these results suggest that a combined and profound defect of innate and adaptive effector cells might explain the susceptibility to infections and lymphoma in these HPS2 patients.

  2. A Lactuca universal hybridizer, and its use in creation of fertile interspecific somatic hybrids.

    Science.gov (United States)

    Chupeau, M C; Maisonneuve, B; Bellec, Y; Chupeau, Y

    1994-10-28

    A Lactuca sativa cv. Ardente line heterozygous for a gene encoding resistance to kanamycin, a positive and dominant trait, was crossed with cv. Girelle, which is heterozygous for a recessive albinism marker. The resulting seeds yielded 25% albino seedlings, of which 50% were also resistant to kanamycin. Such plantlets (KR, a) grown in vitro were used for preparation of universal hybridizer protoplasts, since green buds that can develop on kanamycin containing-medium should result from fusion with any wild-type protoplast. To test the practicability of this selection scheme, we fused L. sativa KR, a protoplasts with protoplasts derived from various wild Lactuca as well as various other related species. Protoplast-derived cell colonies were selected for resistance to kanamycin at the regeneration stage. Green buds were regenerated after fusion with protoplasts of L. tatarica and of L. perennis. So far, 9 interspecific hybrid plants have been characterized morphologically. In addition, random amplified polymorphic DNA (RAPD) analysis with selected primers confirmed that these plants are indeed interspecific hybrids. Some plants are female-fertile and production of backcross progenies with L. sativa is in progress. Since many desirable traits such as resistances to viruses, bacteria and fungi (Bremia lactucae) have been characterized in wild Lactuca species, the use of somatic hybridization in breeding programmes now appears a practical possibility. PMID:7816020

  3. Labelling of the pineal gland with 99mTc-glucose-6-phosphate

    International Nuclear Information System (INIS)

    Lately, the pineal body has been the subject of a large variety of studies. Only recently it has been understood the role played by this endocrine gland to maintain the balance of the human body and also in animal models. Although small in dimensions, the pineal body is a very active organ, able to transmit precise temporal information. It probably participates in the synchronization of several organic functions. The present work aims to study a possible use of 99mTc-glucose-6-P as a tracer for the pineal gland. Histoautoradiographic studies have been performed in Wistar rats. Tomoscintigraphic studies were acquired in patients and in albine rabbits (oryctolagus cuniculus hyplus). The labelling efficiency and the radiochemical purity of the labelled products have always been tested. Animal and human SPECT exams, show an activity focus projected over the area corresponding to the pineal body localization. Autoradiographic studies using [1-14C]-glucose-6-P did not reveal a more relevant activity at the pineal level, probably due to its hepatic conversion to 14C-glucose. (author)

  4. The effect of sodium chloride on the growth and morphology of dermatophytes and some other keratolytic fungi.

    Science.gov (United States)

    Kane, J; Fischer, J B

    1975-06-01

    A study of the influence of various concentrations of NaC1 on 21 species of dermatophytes and other keratolytic fungi was made. Based on the sensitivity of the species to various concentrations of NaC1, it was possible to divide them into five groups. Microsporum ferrugineum and Trichophyton concentricum and T. tonsurans were the most sensitive to NaC1 and were inhibited by 5%. The greatest number of species were inhibited by 12% NaC1. The fungi most tolerant to NaC1 were M. cookei and M. nanum, and T. mentagrophytes, T. schoenleinii, and T. terrestre. These species were inhibited by 15%. NaC1 prevented any variant change in Epidermophyton floccosum, T. mentagrophytes, and M. gypseum, but promoted a change in phenotype in M. audouinii and M. cookei, and T. gallinae. It is suggested that the word "pleomorphism" be replaced by the term sterile albinism. This term refers to that kind of cultural change when there is no evidence of sporulation and the white fluffy mycelium consists of fine sterile hyphae. Sterile albino strains of E. floccosum were induced to form a macroconidia on Sabouraud cycloheximide chloramphenicol gentamicin agar (SCCGA) containing 3-5% NaC1. Also, M. audouinii formed microconidia and macroconidia in velvety growth cultured on SCCGA containing NaC1.

  5. Low Vision Management For Infantile Nystagmus: A Case Study

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    Alexandra Troy, OD

    2015-02-01

    Full Text Available Background: Infantile nystagmus is a common cause of visual impairment. It can occur in isolation, but it is often found in association with other conditions, such as albinism. The condition results in varying levels of vision impairments ranging from mild to severe. Characteristics include early onset, bilateral involvement, pendular and jerk waveforms, the presence of a null point, and the lack of optokinetic nystagmus and oscillopsia (environment moving. This article provides a review of pathogenesis, epidemiology, and treatment of infantile nystagmus. A case study highlights low vision strategies and management for the condition. Case Report: A 12-year-old male with infantile nystagmus presented to the satellite low vision pediatric clinic for initial evaluation. He reported difficulty with different tasks at school secondary to his visual impairment. Low vision intervention utilized various devices and strategies to meet his distance and near goals. Discussion: With no known cure, low vision rehabilitation is important for individuals with nystagmus to allow them to reach their highest potential. Rehabilitation techniques can easily be applied by a primary care optometrist.

  6. Efectos del stress antes del embarazo y a los ocho días de preñez, sobre la exploración, la defecación y el peso corporal de las crías de ratones

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    Francisco Pereira

    1980-01-01

    Full Text Available The effects of stress before pregnancy and on the 8th. day of pregnancy on the exploration, defecation, and body weígth, of the offspring, was studied in roice. Sixteen albine Swiss females were divided in four groups of four mice each. In group 1 the females were subjected to electric shock on the 8th. day of pregnancy; in group U, they were given the shock on the 8th. day before pregnancy; females of groups IU and IV were used as controls. Fifty to síxty days after birth, the 125 subjects (the offspring were tested on exploration, defecation, and body weight. On the exploration variable there were sígnífícant differences between groups I and UI, and between groups I and IV. On the other hand, no differences were found between groups 1 and U. Similar results were found on defecation and body weight. The findings are díscussed in relation lo previous investigations

  7. Spectrum of fibrosing diffuse parenchymal lung disease.

    Science.gov (United States)

    Morgenthau, Adam S; Padilla, Maria L

    2009-02-01

    The interstitial lung diseases are a heterogeneous group of disorders characterized by inflammation and/or fibrosis of the pulmonary interstitium. In 2002, the American Thoracic Society and the European Respiratory Society revised the classification of interstitial lung diseases and introduced the term diffuse parenchymal lung disease. The idiopathic interstitial pneumonias are a subtype of diffuse parenchymal lung disease. The idiopathic interstitial pneumonias are subdivided into usual interstitial pneumonia (with its clinical counterpart idiopathic interstitial pneumonia), nonspecific interstitial pneumonia, cryptogenic organizing pneumonia, acute interstitial pneumonia, desquamative interstitial pneumonia, respiratory bronchiolitis interstitial lung disease, and lymphocytic pneumonia. Sarcoidosis and hypersensitivity pneumonitis are the 2 most common granulomatous diffuse parenchymal lung diseases. Rheumatoid arthritis, systemic sclerosis, and dermatomyositis/polymyositis (causing antisynthetase syndrome) are diffuse parenchymal lung diseases of known association because these conditions are associated with connective tissue disease. Hermansky-Pudlak syndrome is a rare genetic diffuse parenchymal lung disease characterized by the clinical triad of pulmonary disease, oculocutaneous albinism, and bleeding diathesis. This review provides an overview of the chronic fibrosing diffuse parenchymal lung diseases. Its primary objective is to illuminate the clinical challenges encountered by clinicians who manage the diffuse parenchymal lung diseases regularly and to offer potential solutions to those challenges. Treatment for the diffuse parenchymal lung diseases is limited, and for many patients with end-stage disease, lung transplantation remains the best option. Although much has been learned about the diffuse parenchymal lung diseases during the past decade, research in these diseases is urgently needed. PMID:19170214

  8. In Silico Screening and Molecular Dynamics Simulation of Disease-Associated nsSNP in TYRP1 Gene and Its Structural Consequences in OCA3

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    Balu Kamaraj

    2013-01-01

    Full Text Available Oculocutaneous albinism type III (OCA3, caused by mutations of TYRP1 gene, is an autosomal recessive disorder characterized by reduced biosynthesis of melanin pigment in the hair, skin, and eyes. The TYRP1 gene encodes a protein called tyrosinase-related protein-1 (Tyrp1. Tyrp1 is involved in maintaining the stability of tyrosinase protein and modulating its catalytic activity in eumelanin synthesis. Tyrp1 is also involved in maintenance of melanosome structure and affects melanocyte proliferation and cell death. In this work we implemented computational analysis to filter the most probable mutation that might be associated with OCA3. We found R326H and R356Q as most deleterious and disease associated by using PolyPhen 2.0, SIFT, PANTHER, I-mutant 3.0, PhD-SNP, SNP&GO, Pmut, and Mutpred tools. To understand the atomic arrangement in 3D space, the native and mutant (R326H and R356Q structures were modelled. Finally the structural analyses of native and mutant Tyrp1 proteins were investigated using molecular dynamics simulation (MDS approach. MDS results showed more flexibility in native Tyrp1 structure. Due to mutation in Tyrp1 protein, it became more rigid and might disturb the structural conformation and catalytic function of the structure and might also play a significant role in inducing OCA3. The results obtained from this study would facilitate wet-lab researches to develop a potent drug therapies against OCA3.

  9. Infection of mice with oocysts of Toxoplasma gondii by oral route showed differences of virulence from Brazilian RFLP genotypes BrI and BrIII.

    Science.gov (United States)

    Chiebao, Daniela Pontes; Pena, Hilda Fátima de Jesus; Cabral, Aline Diniz; Rocca, Mayra Pereira; Lopes, Estela Gallucci; Valadas, Samantha Yuri Oshiro Branco; Keid, Lara Borges; Grisi Filho, José Henrique Hildebrand; Soares, Rodrigo Martins

    2016-08-01

    South American strains of Toxoplasma gondii present higher genetic diversity than classical European strains. We compared the virulence of two non-archetypal Brazilian genotypes of T. gondii to mice. Oocysts of four isolates, two genotype BrI (TgCatBr71 and TgShBr11) and two BrIII (TgCatBr74 and TgCatBr60) were obtained from cats fed experimentally infected mice. After sporulation, 5.0×10(1) and 1.0×10(2) oocysts were orally administrated to Swiss albine mice in Experiments #1 and #2, respectively (4-10 mice/group). Humoral response from dead and surviving mice was analyzed on days 9 to 35 post-infection. Microscopic observations of lungs and brains were performed for tachyzoites and cysts visualization in fresh preparations. Negative results were tested by PCR. Virulence after infection with oocysts is dose dependent for genotype BrIII isolates, but not for BrI. Differences in mortality were observed among isolates from genotype BrIII on Experiment #1. Intra-genotype phenotypic variation related to the parasite stage of infection was demonstrated and this characteristic should be further studied and may influence future work regarding the role of virulence amid hosts. PMID:27474004

  10. Two Novel Mutations Identified in an African-American Child with Chediak-Higashi Syndrome

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    Kerry Morrone

    2010-01-01

    Full Text Available Background. Chediak-Higashi syndrome (CHS is a rare, autosomal recessive disorder characterized by oculocutaneous albinism, immunodeficiency, coagulopathy and late-onset, progressive neurological dysfunction. It also has an “accelerated phase” characterized by hemophagocytic lymphohistiocytosis (HLH. The disease is caused by mutations in the CHS1/LYST gene located on chromosome 1, which affects lysosome morphology and function. We report the case of an African-American child with CHS in Case. This 16-month old African-American girl presented with fever and lethargy. The proband had pale skin compared to her parents, with light brown eyes, silvery hair and massive hepatosplenomegaly. Her laboratory evaluation was remarkable for pancytopenia, high serum ferritin and an elevated LDH. Bone marrow aspirate revealed large inclusions in granulocytes and erythrophagocytosis consistent with HLH. Genetic evaluation revealed two novel nonsense mutations in the CHS1 gene: c.3622C>T (p.Q1208X and c.11002G>T (p.E3668X. Conclusions. Our patient is one of the few cases of CHS reported in the African American population. We identified 2 nonsense mutations in the CHS1 gene, the first mutation analysis published of an African-American child with Chediak-Higashi Syndrome. These two mutations predict a severe phenotype and thus identification of these mutations has an important clinical significance in CHS.

  11. French chemists and the international reorganisation of chemistry after World War I.

    Science.gov (United States)

    Fauque, Danielle M E

    2011-07-01

    Founded in 1919, the International Union of Pure and Applied Chemistry (IUPAC) was successor to the International Association of Chemical Societies (IACS), which had been founded eight years earlier at the initiative of Albin Haller. The statutes of the IUPAC (like those of the IACS) were written in French, and it was agreed that the IUPAC's administrative headquarters should be in Paris. With these arrangements in place, the role of French chemists generally, and of Haller and Charles Moureu in particular, assumed crucial importance. In 1927, on the occasion of the centenary of Marcelin Berthelot's birth, plans were laid for an international centre for chemistry in Paris, soon to be known as the Maison de la Chimie. From the start, the Maison de la Chimie project was led by the French, most conspicuously by Jean Gérard, general secretary of the Société de chimie industrielle and of the IUPAC. Gérard's contribution to a number of national and international committees, notably for scientific documentation, left an enduring legacy. The years between 1918 and 1927, especially 1918-1919, were decisive for the rebuilding, on many fronts, of international networks embracing individuals and institutions recently separated by war. This article examines the particular case of chemistry, with reference to this wider context and to the widely shared determination to fashion an organisation that would transcend national boundaries and embrace both the pure and the applied aspects of the discipline.

  12. Prevention of lysosomal storage diseases and derivation of mutant stem cell lines by preimplantation genetic diagnosis.

    Science.gov (United States)

    Altarescu, Gheona; Beeri, Rachel; Eiges, Rachel; Epsztejn-Litman, Silvina; Eldar-Geva, Talia; Elstein, Deborah; Zimran, Ari; Margalioth, Ehud J; Levy-Lahad, Ephrat; Renbaum, Paul

    2012-01-01

    Preimplantation genetic diagnosis (PGD) allows birth of unaffected children for couples at risk for a genetic disorder. We present the strategy and outcome of PGD for four lysosomal storage disorders (LSD): Tay-Sachs disease (TSD), Gaucher disease (GD), Fabry disease (FD), and Hunter syndrome (HS), and subsequent development of stem cell lines. For each disease, we developed a family-specific fluorescent multiplex single-cell PCR protocol that included the familial mutation and informative markers surrounding the mutation. Embryo biopsy and PGD analysis were performed on either oocytes (polar bodies one and two) or on single blastomeres from a six-cell embryo. We treated twenty families carrying mutations in these lysosomal storage disorders, including 3 couples requiring simultaneous analysis for two disorders (TSD/GD, TSD/balanced Robertsonian translocation 45XYder(21;14), and HS/oculocutaneus albinism). These analyses led to an overall pregnancy rate/embryo transfer of 38% and the birth of 20 unaffected children from 17 families. We have found that PGD for lysosomal disorders is a safe and effective method to prevent birth of affected children. In addition, by using mutant embryos for the derivation of stem cell lines, we have successfully established GD and HS hESC lines for use as valuable models in LSD research. PMID:23320174

  13. Prevention of Lysosomal Storage Diseases and Derivation of Mutant Stem Cell Lines by Preimplantation Genetic Diagnosis

    Directory of Open Access Journals (Sweden)

    Gheona Altarescu

    2012-01-01

    Full Text Available Preimplantation genetic diagnosis (PGD allows birth of unaffected children for couples at risk for a genetic disorder. We present the strategy and outcome of PGD for four lysosomal storage disorders (LSD: Tay-Sachs disease (TSD, Gaucher disease (GD, Fabry disease (FD, and Hunter syndrome (HS, and subsequent development of stem cell lines. For each disease, we developed a family-specific fluorescent multiplex single-cell PCR protocol that included the familial mutation and informative markers surrounding the mutation. Embryo biopsy and PGD analysis were performed on either oocytes (polar bodies one and two or on single blastomeres from a six-cell embryo. We treated twenty families carrying mutations in these lysosomal storage disorders, including 3 couples requiring simultaneous analysis for two disorders (TSD/GD, TSD/balanced Robertsonian translocation 45XYder(21;14, and HS/oculocutaneus albinism. These analyses led to an overall pregnancy rate/embryo transfer of 38% and the birth of 20 unaffected children from 17 families. We have found that PGD for lysosomal disorders is a safe and effective method to prevent birth of affected children. In addition, by using mutant embryos for the derivation of stem cell lines, we have successfully established GD and HS hESC lines for use as valuable models in LSD research.

  14. Tyrosinase gene mutations in the Chinese Han population with OCA1.

    Science.gov (United States)

    Liu, Ning; Kong, Xiang Dong; Shi, Hui Rong; Wu, Qing Hua; Jiang, Miao

    2014-01-01

    Oculocutaneous albinism (OCA) is a heterogeneous autosomal recessive genetic disorder that affects melanin synthesis. OCA results in reduced or absent pigmentation in the hair, skin and eyes. Type 1 OCA (OCA1) is the result of tyrosinase (TYR) gene mutations and is a severe disease type. This study investigated TYR mutations in a Chinese cohort with OCA1. This study included two parts: patient genetic study and prenatal genetic diagnosis. A total of 30 OCA1 patients were subjected to TYR gene mutation analysis. Ten pedigrees were included for prenatal genetic diagnosis. A total of 100 unrelated healthy Chinese individuals were genotyped for controls. The coding sequence and the intron/exon junctions of TYR were analysed by bidirectional DNA sequencing. In this study, 20 mutations were identified, four of which were novel. Of these 30 OCA1 patients, 25 patients were TYR compound heterozygous; two patients carried homozygous TYR mutations; and three were heterozygous. Among the ten prenatally genotyped fetuses, three fetuses carried compound heterozygous mutations and seven carried no mutation or only one mutant allele of TYR and appeared normal at birth. In conclusion, we identified four novel TYR mutations and showed that molecular-based prenatal screening to detect TYR mutations in a fetus at risk for OCA1 provided essential information for genetic counselling of couples at risk. PMID:25577957

  15. Impairment of dendritic cell functions in patients with adaptor protein-3 complex deficiency.

    Science.gov (United States)

    Prandini, Alberto; Salvi, Valentina; Colombo, Francesca; Moratto, Daniele; Lorenzi, Luisa; Vermi, William; De Francesco, Maria Antonia; Notarangelo, Lucia Dora; Porta, Fulvio; Plebani, Alessandro; Facchetti, Fabio; Sozzani, Silvano; Badolato, Raffaele

    2016-06-30

    Hermansky-Pudlak syndrome type 2 (HPS2) is a primary immunodeficiency due to adaptor protein-3 (AP-3) complex deficiency. HPS2 patients present neutropenia, partial albinism, and impaired lysosomal vesicles formation in hematopoietic cells. Given the role of dendritic cells (DCs) in the immune response, we studied monocyte-derived DCs (moDCs) and plasmacytoid DCs (pDCs) in two HPS2 siblings. Mature HPS2 moDCs showed impaired expression of CD83 and DC-lysosome-associated membrane protein (LAMP), low levels of MIP1-β/CCL4, MIG/CXCL9, and severe defect of interleukin-12 (IL-12) secretion. DCs in lymph-node biopsies from the same patients showed a diffuse cytoplasm reactivity in a large fraction of DC-LAMP(+) cells, instead of the classical dot-like stain. In addition, analysis of pDC-related functions of blood-circulating mononuclear cells revealed reduced interferon-α secretion in response to herpes simplex virus-1 (HSV-1), whereas granzyme-B induction upon IL-3/IL-10 stimulation was normal. Finally, T-cell costimulatory activity, as measured by mixed lymphocyte reaction assay, was lower in patients, suggesting that function and maturation of DCs is abnormal in patients with HPS2.

  16. [Genodermatosis in man and animal. Comparative overview].

    Science.gov (United States)

    Küster, W; Happle, R

    1983-11-01

    Fourteen monogenic cutaneous disorders of man are compared to similar gene defects in animals. The traits are classified into two groups. In the first group, an identity (homology) of the underlying gene defects is likely. This group includes oculo-cutaneous albinism, Chédiak-Higashi syndrome, aplasia cutis congenita, Ehlers-Danlos syndrome (type I), hypohidrotic ectodermal dysplasia of the Christ-Siemens-Touraine type, X-linked dominant chondrodysplasia punctata, ichthyosis congenita gravis, Menkes syndrome, erythropoetic porphyria, porphyria cutanea tarda, and acrodermatitis enteropathica. In the second group, the traits are similar but the question of their homology cannot be settled. It includes alopecia congenita, hidrotic ectodermal dysplasia of the Clouston type, and hereditary lymphedema. The existence of identical mutations in man and animals provides evidence for the close relationship between the various mammalian species. Homologous traits affecting the skin are of practical importance since the use of these animal models may help to answer those questions which cannot be answered by performing research in human patients. PMID:6358130

  17. Histological review of skin cancers in African Albinos: a 10-year retrospective review

    International Nuclear Information System (INIS)

    Skin cancer is rare among Africans and albinism is an established risk for skin cancer in this population. Ultraviolet radiation is highest at the equator and African albinos living close to the equator have the highest risk of developing skin cancers. This was a retrospective study that involved histological review of all specimens with skin cancers from African albinos submitted to The Regional Dermatology Training Center in Moshi, Tanzania from 2002 to 2011. A total of 134 biopsies from 86 patients with a male to female ratio of 1:1 were reviewed. Head and neck was the commonest (n = 75, 56.0%) site affected by skin cancers. Squamous cell carcinoma (SCC) was more common than basal cell carcinoma (BCC) with a ratio of 1.2:1. Only one Acral lentiginous melanoma was reported. Majority (55.6%) of SCC were well differentiated while nodular BCC (75%) was the most common type of BCC. Squamous cell carcinoma is more common than basal cell carcinoma in African albinos

  18. Aberraciones cromáticas en aves de la colección ornitológica del Museo Argentino de Ciencias Naturales “Bernardino Rivadavia” Chromatic aberrations in birds of the ornithological collection of the Museo Argentino de Ciencias Naturales “Bernardino Rivadavia”

    Directory of Open Access Journals (Sweden)

    Matías Ricardo Urcola

    2011-12-01

    Full Text Available En el presente trabajo se determinan las aberraciones cromáticas que afectan el plumaje de las aves en la colección ornitológica del Museo Argentino de Ciencias Naturales de Buenos Aires. Estas alteraciones se deben a exceso o defecto en la producción y/o deposición del pigmento melanina, las familias afectadas pertenecen a Tinamidae, Spheniscidae, Ardeidae, Threskiornithidae, Anatidae, Falconidae, Rallidae, Charadriidae, Columbidae, Strigidae, Momotidae, Furnariidae, Mimidae, Motacillidae, Emberizidae e Icteridae. Dentro de las aberraciones propuestas el leucismo parcial (40,5 % es la más numerosa, seguida por la dilución pastel (23,8 %, albinismo (14,3 % y finalmente los plumajes brown, ino y eumelanismo parcial (7,1 % cada una.The paper makes out a strong case for determine chromatic aberrations that affect the coloring of the birds in the ornithological collection of the Museo Argentino de Ciencias Naturales de Buenos Aires. These alterations are due to excess or deficiency in the production and/or deposition of melanin pigment, the affect families belong to Tinamidae, Spheniscidae, Ardeidae, Threskiornithidae, Anatidae, Falconidae, Rallidae, Charadriidae, Columbidae, Strigidae, Momotidae, Furnariidae, Mimidae, Motacillidae, Emberizidae and Icteridae. Within the proposed changes, the partial leucism (40,5 % is the most numerous, followed by pastel dilution (23,8 %, albinism (14,3 % and finally brown aberrations, ino and partial eumelanism, each one of then had (7,1 %.

  19. Loss of Oca2 disrupts the unfolded protein response and increases resistance to endoplasmic reticulum stress in melanocytes.

    Science.gov (United States)

    Cheng, Tsing; Orlow, Seth J; Manga, Prashiela

    2013-11-01

    Accumulation of proteins in the endoplasmic reticulum (ER) typically induces stress and initiates the unfolded protein response (UPR) to facilitate recovery. If homeostasis is not restored, apoptosis is induced. However, adaptation to chronic UPR activation can increase resistance to subsequent acute ER stress. We therefore investigated adaptive mechanisms in Oculocutaneous albinism type 2 (Oca2)-null melanocytes where UPR signaling is arrested despite continued tyrosinase accumulation leading to resistance to the chemical ER stressor thapsigargin. Although thapsigargin triggers UPR activation, instead of Perk-mediated phosphorylation of eIF2α, in Oca2-null melanocytes, eIF2α was rapidly dephosphorylated upon treatment. Dephosphorylation was mediated by the Gadd34-PP1α phosphatase complex. Gadd34-complex inhibition blocked eIF2α dephosphorylation and significantly increased Oca2-null melanocyte sensitivity to thapsigargin. Thus, Oca2-null melanocytes adapt to acute ER stress by disruption of pro-apoptotic Perk signaling, which promotes cell survival. This is the first study to demonstrate rapid eIF2α dephosphorylation as an adaptive mechanism to ER stress.

  20. Vitiligo vulgaris and autoimmune diseases in Japan: A report from vitiligo clinic in Kyoto University Hospital.

    Science.gov (United States)

    Tanioka, Miki; Yamamoto, Yosuke; Katoh, Mayumi; Takahashi, Kenzo; Miyachi, Yoshiki

    2009-01-01

    We reviewed the causes of "loss of skin color" in 144 patients, who visited Vitiligo Clinic of Kyoto University Hospital between April 2005 and August 2008. The numbers of patients with generalized and segmental Vitiligo vulgaris were 98 (68.1%) and 26 (18.1%), respectively. Small numbers of the patients suffered from Vogt-Koyanagi-Harada disease, piebaldism, congenital albinism, Hypomelanosis of Ito, post-inflammatory hypopigmentation, white leaf-shaped macules associated with tuberous sclerosis and nevus hypopigmentosus. One forth of the patients with generalized vitiligo had complications, while no complications were found in the patients with segmental vitiligo. Among the complications, autoimmune diseases dominated 43% (10 of 23 cases). Autoimmune thyroid diseases explained for the most of the complicated autoimmune diseases and were associated with 7.4% of the patients with generalized vitiligo. Minor autoimmune complications include myasthenia gravis, Sjogren syndrome and autoimmune nephritis. Reflecting the condition that our clinic is located in a university hospital, vitiligo patients with end-stage non-melanoma cancers of internal organs accounted for 8.4% of the patients of generalized vitiligo. PMID:20046588

  1. Forkhead containing transcription factor Albino controls tetrapyrrole-based body pigmentation in planarian

    Science.gov (United States)

    Wang, Chen; Han, Xiao-Shuai; Li, Fang-Fang; Huang, Shuang; Qin, Yong-Wen; Zhao, Xian-Xian; Jing, Qing

    2016-01-01

    Pigmentation processes occur from invertebrates to mammals. Owing to the complexity of the pigmentary system, in vivo animal models for pigmentation study are limited. Planarians are capable of regenerating any missing part including the dark-brown pigments, providing a promising model for pigmentation study. However, the molecular mechanism of planarian body pigmentation is poorly understood. We found in an RNA interference screen that a forkhead containing transcription factor, Albino, was required for pigmentation without affecting survival or other regeneration processes. In addition, the body color recovered after termination of Albino double stranded RNA feeding owing to the robust stem cell system. Further expression analysis revealed a spatial and temporal correlation between Albino and pigmentation process. Gene expression arrays revealed that the expression of three tetrapyrrole biosynthesis enzymes, ALAD, ALAS and PBGD, was impaired upon Albino RNA interference. RNA interference of PBGD led to a similar albinism phenotype caused by Albino RNA interference. Moreover, PBGD was specifically expressed in pigment cells and can serve as a pigment cell molecular marker. Our results revealed that Albino controls planarian body color pigmentation dominantly via regulating tetrapyrrole biogenesis. These results identified Albino as the key regulator of the tetrapyrrole-based planarian body pigmentation, suggesting a role of Albino during stem cell-pigment cell fate decision and provided new insights into porphyria pathogenesis. PMID:27551436

  2. Molecular analyses of a tyrosinase-negative albino family

    Energy Technology Data Exchange (ETDEWEB)

    Park, K.C.; Chintamaneni, C.D.; Kwon, B.S. (Indiana Univ., Indianapolis (United States)); Halaban, R. (Yale Univ., New Haven, CT (United States)); Witkop, C.J. Jr. (Univ. of Minnesota, Minneapolis (United States))

    1993-02-01

    Sequence analysis of the tyrosinase coding region from an individual with tyrosinase-negative oculocutaneous albinism revealed that the patient was a compound heterozygote. One allele carried a C[r arrow]A single-base substitution in codon 355 of exon 3, and the other carried a two-nucleotide deletion in exon 1. The nucleotide substitution caused a putative amino acid change from threonine (ACA) to lysine (AAA), abolishing a signal for N-glycosylation. The two base-pair deletion caused a frameshift, creating a putative premature termination signal at codon 226. The melanocytes from the proband and her affected brother were amelanotic and devoid of measurable tyrosinase activity. Moreover, gel electrophoretic analysis of the immunoprecipitated proband tyrosinase showed that the protein was no processed to the mature glycosylated form, confirming the predicted consequence of the amino acid change. The two-base deletion on the homologous allele was detected only by sequencing genomic DNA. The transcript of this allele was not represented in the cDNA library and could not be detected by PCR mRNA, and the putative truncated protein ([approximately]25 kDa) was not present in immunoprecipitates, suggesting that the allele with the missense mutation may be preferentially expressed. 29 refs., 6 figs., 1 tab.

  3. Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43

    Energy Technology Data Exchange (ETDEWEB)

    Barrat, F.J.; Auloge, L.; Pastural, E. [INSERM, Paris (France)] [and others

    1996-09-01

    The Chediak-Higashi syndrome (CHS) is a severe autosomal recessive condition, features of which are partial oculocutaneous albinism, increased susceptibility to infections, deficient natural killer cell activity, and the presence of large intracytoplasmic granulations in various cell types. Similar genetic disorders have been described in other species, including the beige mouse. On the basis of the hypothesis that the murine chromosome 13 region containing the beige locus was homologous to human chromosome 1, we have mapped the CHS locus to a 5-cM interval in chromosome segment 1q42.1-q42.2. The highest LOD score was obtained with the marker D1S235 (Z{sub max} = 5.38; {theta} = 0). Haplotype analysis enabled us to establish D1S2680 and D1S163, respectively, as the telomeric and the centromeric flanking markers. Multipoint linkage analysis confirms the localization of the CHS locus in this interval. Three YAC clones were found to cover the entire region in a contig established by YAC end-sequence characterization and sequence-tagged site mapping. The YAC contig contains all genetic markers that are nonrecombinant for the disease in the nine CHS families studied. This mapping confirms the previous hypothesis that the same gene defect causes CHS in human and beige phenotype in mice and provides a genetic framework for the identification of candidate genes. 36 refs., 4 figs., 1 tab.

  4. Novel Hypomorphic Alleles of the Mouse Tyrosinase Gene Induced by CRISPR-Cas9 Nucleases Cause Non-Albino Pigmentation Phenotypes

    Science.gov (United States)

    Boitet, Evan R.; Turner, Ashley N.; Johnson, Larry W.; Kennedy, Daniel; Downs, Ethan R.; Hymel, Katherine M.; Gross, Alecia K.; Kesterson, Robert A.

    2016-01-01

    Tyrosinase is a key enzyme in melanin biosynthesis. Mutations in the gene encoding tyrosinase (Tyr) cause oculocutaneous albinism (OCA1) in humans. Alleles of the Tyr gene have been useful in studying pigment biology and coat color formation. Over 100 different Tyr alleles have been reported in mice, of which ≈24% are spontaneous mutations, ≈60% are radiation-induced, and the remaining alleles were obtained by chemical mutagenesis and gene targeting. Therefore, most mutations were random and could not be predicted a priori. Using the CRISPR-Cas9 system, we targeted two distinct regions of exon 1 to induce pigmentation changes and used an in vivo visual phenotype along with heteroduplex mobility assays (HMA) as readouts of CRISPR-Cas9 activity. Most of the mutant alleles result in complete loss of tyrosinase activity leading to an albino phenotype. In this study, we describe two novel in-frame deletion alleles of Tyr, dhoosara (Sanskrit for gray) and chandana (Sanskrit for sandalwood). These alleles are hypomorphic and show lighter pigmentation phenotypes of the body and eyes. This study demonstrates the utility of CRISPR-Cas9 system in generating domain-specific in-frame deletions and helps gain further insights into structure-function of Tyr gene. PMID:27224051

  5. Hybridism between Biomphalaria cousini and Biomphalaria amazonica and its susceptibility to Schistosoma mansoni

    Directory of Open Access Journals (Sweden)

    Tatiana Maria Teodoro

    2011-11-01

    Full Text Available Molecular techniques can aid in the classification of Biomphalaria species because morphological differentiation between these species is difficult. Previous studies using phylogeny, morphological and molecular taxonomy showed that some populations studied were Biomphalaria cousini instead of Biomphalaria amazonica. Three different molecular profiles were observed that enabled the separation of B. amazonica from B. cousini. The third profile showed an association between the two and suggested the possibility of hybrids between them. Therefore, the aim of this work was to investigate the hybridism between B. cousini and B. amazonica and to verify if the hybrids are susceptible to Schistosoma mansoni. Crosses using the albinism factor as a genetic marker were performed, with pigmented B. cousini and albino B. amazonica snails identified by polymerase chain reaction-restriction fragment length polymorphism. This procedure was conducted using B. cousini and B. amazonica of the type locality accordingly to Paraense, 1966. In addition, susceptibility studies were performed using snails obtained from the crosses (hybrids and three S. mansoni strains (LE, SJ, AL. The crosses between B. amazonica and B. cousini confirmed the occurrence of hybrids. Moreover, hybrids can be considered potential hosts of S. mansoni because they are susceptible to LE, SJ and AL strains (4.4%, 5.6% and 2.2%, respectively. These results indicate that there is a risk of introducing schistosomiasis mansoni into new areas.

  6. The BEACH Domain Protein SPIRRIG Is Essential for Arabidopsis Salt Stress Tolerance and Functions as a Regulator of Transcript Stabilization and Localization.

    Directory of Open Access Journals (Sweden)

    Alexandra Steffens

    2015-07-01

    Full Text Available Members of the highly conserved class of BEACH domain containing proteins (BDCPs have been established as broad facilitators of protein-protein interactions and membrane dynamics in the context of human diseases like albinism, bleeding diathesis, impaired cellular immunity, cancer predisposition, and neurological dysfunctions. Also, the Arabidopsis thaliana BDCP SPIRRIG (SPI is important for membrane integrity, as spi mutants exhibit split vacuoles. In this work, we report a novel molecular function of the BDCP SPI in ribonucleoprotein particle formation. We show that SPI interacts with the P-body core component DECAPPING PROTEIN 1 (DCP1, associates to mRNA processing bodies (P-bodies, and regulates their assembly upon salt stress. The finding that spi mutants exhibit salt hypersensitivity suggests that the local function of SPI at P-bodies is of biological relevance. Transcriptome-wide analysis revealed qualitative differences in the salt stress-regulated transcriptional response of Col-0 and spi. We show that SPI regulates the salt stress-dependent post-transcriptional stabilization, cytoplasmic agglomeration, and localization to P-bodies of a subset of salt stress-regulated mRNAs. Finally, we show that the PH-BEACH domains of SPI and its human homolog FAN (Factor Associated with Neutral sphingomyelinase activation interact with DCP1 isoforms from plants, mammals, and yeast, suggesting the evolutionary conservation of an association of BDCPs and P-bodies.

  7. Homozygosity mapping of the gene for Chediak-Higashi syndrome to chromosome 1q42-q44 in a segment of conserved synteny that includes the mouse beige locus (bg)

    Energy Technology Data Exchange (ETDEWEB)

    Fukai, Kazuyoshi; Oh, Jangsuk; Karim, M.A. [Univ. of Wisconsin Medical School, Madison, WI (United States)] [and others

    1996-09-01

    Chediak-Higashi syndrome (CHS) is an autosomal recessive disorder characterized by hypopigmentation or oculocutaneous albinism and severe immunologic deficiency with neutropenia and lack of natural killer (NK) cell function. Most patients die in childhood from pyogenic infections or an unusual lymphoma-like condition. A hallmark of the disorder is giant inclusion bodies seen in all granule-containing cells, including granulocytes, lymphocytes, melanocytes, mast cells, and neurons. Similar ultrastructural abnormalities occur in the beige mouse, which thus has been suggested to be homologous to human CHS. High-resolution genetic mapping has indicated that the bg gene region of mouse chromosome 13 is likely homologous to the distal portion of human chromosome 1q. Accordingly, we carried out homozygosity mapping using markers derived from distal human chromosome 1q in four inbred families or probands with CHS. Our results indicate that the human CHS gene maps to an 18.8-cM interval in chromosome segment 1q42-q44 and that human CHS therefore is very likely homologous to mouse bg. 43 refs., 2 figs.

  8. Melanosomal dynamics assessed with a live-cell fluorescent melanosomal marker.

    Directory of Open Access Journals (Sweden)

    Jan M Bruder

    Full Text Available Melanocytes present in skin and other organs synthesize and store melanin pigment within membrane-delimited organelles called melanosomes. Exposure of human skin to ultraviolet radiation (UV stimulates melanin production in melanosomes, followed by transfer of melanosomes from melanocytes to neighboring keratinocytes. Melanosomal function is critical for protecting skin against UV radiation, but the mechanisms underlying melanosomal movement and transfer are not well understood. Here we report a novel fluorescent melanosomal marker, which we used to measure real-time melanosomal dynamics in live human epidermal melanocytes (HEMs and transfer in melanocyte-keratinocyte co-cultures. A fluorescent fusion protein of Ocular Albinism 1 (OA1 localized to melanosomes in both B16-F1 cells and HEMs, and its expression did not significantly alter melanosomal distribution. Live-cell tracking of OA1-GFP-tagged melanosomes revealed a bimodal kinetic profile, with melanosomes exhibiting combinations of slow and fast movement. We also found that exposure to UV radiation increased the fraction of melanosomes exhibiting fast versus slow movement. In addition, using OA1-GFP in live co-cultures, we monitored melanosomal transfer using time-lapse microscopy. These results highlight OA1-GFP as a specific and effective melanosomal marker for live-cell studies, reveal new aspects of melanosomal dynamics and transfer, and are relevant to understanding the skin's physiological response to UV radiation.

  9. A novel mutation in the putative DNA helicase XH2 is responsible for male-to-female sex reversal associated with an atypical form of the ATR-X syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Ion, A.; Telvi, L.; Galacteros, F.; McElreavey, K. [Institut Pasteur, Paris (France)] [and others

    1996-06-01

    We describe a pedigree presenting X-linked severe mental retardation associated with multiple congenital abnormalities and 46,XY gonadal dysgenesis, leading in one family member to female gender assignment. Female carriers are unaffected. The dysmorphic features are similar to those described in the {alpha}-thalassemia and mental retardation (ATR-X) syndrome, although there is no clinical evidence of {alpha}-thalassemia in this family. In addition, the family had other clinical features not previously observed in the ATR-X syndrome, including partial optic-nerve atrophy and partial ocular albinism. Mutations in a putative DNA helicase, termed XH2, have been reported to give rise to the ATR-X syndrome. We screened the YCH2 gene for mutations in affected members of the family and identified a 4-bp deletion at an intron/exon boundary that removes an invariant 3{prime} splice-acceptor site. The mutation cosegregates with the syndrome. The genomic deletion causes missplicing of the pre-mRNA, which results in the loss of 8 bp of coding sequence, thereby generating a frameshift and a downstream premature stop codon. Our finding increases the range of clinical features associated with mutations in the XH2 gene. 17 refs., 4 figs., 2 tabs.

  10. 骨折外固定器的研究现状

    Institute of Scientific and Technical Information of China (English)

    许峰; 金伟

    2007-01-01

    骨外固定器始于1840年,法国Magaigen应用2枚大钉穿入胫骨骨折的2端,连接体外的1个金属环带上,以调控骨折移位,开创了外固定器治疗骨折的先例,至今已有160多年的历史。之后陆续有人研究和应用。1902年比利时外科医生Albin Lanbotte第一个创造了可用于股骨、胫骨、锁骨、肱骨前臂和手的各种外固定器,并治愈了大量病人,同时使用金属针固定,以后发展为不锈钢针,因此Lambotte被称为“骨折体系之父”。

  11. 2004年法国出版集团排名稳中微调

    Institute of Scientific and Technical Information of China (English)

    张书卿

    2005-01-01

    2004年,出版图书品种排名前10名的出版集团依次是阿歇特图书集团(Hachette Livre)、埃迪蒂(Editis)、弗拉马里翁集团(Groupe Flammarion)、阿尔马丹(Harmattan)、伽里玛集团(Groupe Gallimard)、马蒂尼耶-塞伊集团(Groupe Martini è re-Le Seuil)、阿斌·米歇尔(Groupe Albin Michel)、传媒-参与集团(M é dia Participations)、巴亚尔集团(Bayard)和普弗(PUF)出版社(见表1)。与2003年相比,虽然这10家出版社没变,但还是稍微有些调整(见表2)。

  12. The Diversity of Wheat CpFBA Genes and its Responsive to Low Temperature%小麦CpFBA基因的多样性及其对低温处理的响应

    Institute of Scientific and Technical Information of China (English)

    刘迎团; 吕科; 候典云; 黄文达; 花庆; 刘小刚; 刘振兰; 王军卫; 徐虹

    2012-01-01

    Chloroplast fructose-1,6-bisphosphate aldolase (CpFBA, aldolase) is a key enzyme involved in the carbon fixation of Calvin Cycle which is important metabolism pathway in photosynthesis. It has been reported that this enzyme participate in the response to different types of abiotic stresses in land plants. In this article, three cDNA sequences encoding wheat CpFBA (TaCpFBA) were cloned by RACE (Rapid-amplification of cDNA ends) and RT-PCR from winter wheat variety Albinism line, two of these may encode 388 amino acids, the other one encodes 309 amino acids. Another two different cDNA sequences come from the control wheat A ibian 1, which encode 388 and 373 amino acids separately. Two 388 amino acids sequences from different materials are identity. We predicted the sequence has a 37 amino acids chloroplast transit peptide by software online. According the cDNA sequences, two primers were designed to amplify TaCpFBA genomic DNA. A 2 669 bp sequence fromAlbinism line, and a 2 630 bp sequence from Aibian 1 were obtained, both sequences contain 6 exons. The TaCpFBA-eGFP fusion vector was constructed. After the vector was transferred into Arabidopsis protoplasts, the transit expression of TaCpFBA-eGFP fusion gene indicated that the TaCpFBA gene encode a chloroplast protein. Furthermore, the expression pattern of TaCpFBA in cold condition was investigated in albinism line and Aibian 1 by quantitative Real Time PCR. We found that, the TaCpFBA trancription of Aibian 1 rose first and then went down, but in albinism line, the wheat sensitive to low temperature, first decreased obviously, then increased gradually. The results suggested the inconsistent expression of TaCpFBA gene in different cold responsive mechanism.%叶绿体果糖-1,6-二磷酸醛缩酶(chloroplast fructose-1,6-biphosphate aldolase,CpFBA)是Calvin循环碳固定过程中的一个关键酶.该酶在光合作用中具有重要的功能,在一些非生物胁迫响应中也起重要的调控作用.本文用RT

  13. 产前基因诊断白化病携带者一例

    Institute of Scientific and Technical Information of China (English)

    刘国莉; 赵耘; 刘春雨; 张丽江

    2004-01-01

    患者32岁,孕2产0,宫内妊娠19周,因孕妇本人系白化病患者,要求做产前基因诊断,于2003年11月17日住院。孕妇父母为姨表亲近亲婚配,表型正常,育有男女各一,家族中仅该孕妇为白化病患者,毛发、眉毛、虹膜、皮肤色素均完全缺失,其兄表型正常。考虑孕妇为白化病1型(oculocutaneous albinism type Ⅰ,OCA1)可能性大,故于孕早期提取了孕妇及其母外周血DNA,针对酪氨酸激酶(tyrosinase,

  14. Ebi/AP-1 suppresses pro-apoptotic genes expression and permits long-term survival of Drosophila sensory neurons.

    Directory of Open Access Journals (Sweden)

    Young-Mi Lim

    Full Text Available Sensory organs are constantly exposed to physical and chemical stresses that collectively threaten the survival of sensory neurons. Failure to protect stressed neurons leads to age-related loss of neurons and sensory dysfunction in organs in which the supply of new sensory neurons is limited, such as the human auditory system. Transducin β-like protein 1 (TBL1 is a candidate gene for ocular albinism with late-onset sensorineural deafness, a form of X-linked age-related hearing loss. TBL1 encodes an evolutionarily conserved F-box-like and WD40 repeats-containing subunit of the nuclear receptor co-repressor/silencing mediator for retinoid and thyroid hormone receptor and other transcriptional co-repressor complexes. Here we report that a Drosophila homologue of TBL1, Ebi, is required for maintenance of photoreceptor neurons. Loss of ebi function caused late-onset neuronal apoptosis in the retina and increased sensitivity to oxidative stress. Ebi formed a complex with activator protein 1 (AP-1 and was required for repression of Drosophila pro-apoptotic and anti-apoptotic genes expression. These results suggest that Ebi/AP-1 suppresses basal transcription levels of apoptotic genes and thereby protects sensory neurons from degeneration.

  15. Development and physical analysis of YAC contigs covering 7 Mb of Xp22.3-p22.2

    Energy Technology Data Exchange (ETDEWEB)

    Herrell, S.; Novo, F.J.; Charlton, R. [Univ. of Cambridge (United Kingdom)] [and others

    1995-01-20

    A total of YAC clones have been isolated from the region of Xp22.2-p22.3 extending from the amelogenin gene locus to DXS31. Restriction analysis of these clones in association with STS contenting and end clone analysis has facilitated the construction of 6 contigs covering a total of 7 Mb in which 20 potential CpG islands have been located. Thirty new STSs have been developed from probe and YAC end clone sequences, and these have been used in the analysis of patients suffering from different combinations of chondrodysplasia punctata, mental retardation, X-linked ichthyosis, and Kallmann syndrome. The results suggest that (1) the gene for chondrodysplasia punctata must lie between the X chromosome pseudoautosomal boundary (PABX) and DXS1145; (2) a gene for mental retardation lies between DXS1145 and the sequence tagged site GS1; and (3) the gene for ocular albinism type 1 lies proximal to the STS G13. The CpG islands within the YAC contigs constitute valuable markers for the potential positions of genes. Genes found associated with any of these potential CpG islands would be possible candidates for the disease genes mentioned above. 47 refs., 3 figs., 5 tabs.

  16. Você conhece esta síndrome? Do you know this syndrome?

    Directory of Open Access Journals (Sweden)

    Erick Dancuart Omar

    2007-04-01

    Full Text Available Na síndrome de Waardenburg, genodermatose autossômica dominante, distúrbios da pigmentação (hipo ou acromia de pele e cabelos, heterocromia da íris podem se associar a surdez, distopia do canto interno do olho e, eventualmente, outras malformações de intestino e ósseas. Os autores relatam um caso clínico da síndrome de Waardenburg tipo 2B, apresentam a classificação da doença com os critérios diagnósticos e discutem o diagnóstico diferencial, que deve ser feito com vitiligo, piebaldismo e diferentes formas de albinismo.Waardenburg syndrome is a dominant autosomal condition in which alterations of pigmentation (hypochromia or achromia of the skin and hair, heterochromia of the iris can be associated with deafness, lateral displacement of the inner canthi of the eyes and occasionally bowel or skeletal malformations. We report a case of Waardenburg syndrome type 2B, present the classification of the disease with diagnostic criteria and discuss differential diagnosis, which should include vitiligo, piebaldism and different forms of albinism.

  17. Connecting the Retina to the Brain

    Directory of Open Access Journals (Sweden)

    Lynda Erskine

    2014-12-01

    Full Text Available The visual system is beautifully crafted to transmit information of the external world to visual processing and cognitive centers in the brain. For visual information to be relayed to the brain, a series of axon pathfinding events must take place to ensure that the axons of retinal ganglion cells, the only neuronal cell type in the retina that sends axons out of the retina, find their way out of the eye to connect with targets in the brain. In the past few decades, the power of molecular and genetic tools, including the generation of genetically manipulated mouse lines, have multiplied our knowledge about the molecular mechanisms involved in the sculpting of the visual system. Here, we review major advances in our understanding of the mechanisms controlling the differentiation of RGCs, guidance of their axons from the retina to the primary visual centers, and the refinement processes essential for the establishment of topographic maps and eye-specific axon segregation. Human disorders, such as albinism and achiasmia, that impair RGC axon growth and guidance and, thus, the establishment of a fully functioning visual system will also be discussed.

  18. 台盼蓝染色鉴定拟南芥sdl1突变体的细胞死亡%Identification of Cell Death of Arabidopsis Thaliana Mutant sdl1 by Trypan Blue Staining

    Institute of Scientific and Technical Information of China (English)

    支添添; 周舟; 韩成云; 任春梅

    2013-01-01

    Phenomenon of leaves wilting and albinism of the Arabidopsis thaliana Mutant sdl1 seedlings was observed when grew for 5-8 days under 16 hours dark/8 hours light condition.The death status was studied by Trypan blue staining,and the results showed that sdl1 leaves couldn' t be stained when totally whitened,so Trypan blue staining could identify sdll cell death just in the early stage of cell death.%拟南芥突变体sdl1在光周期为16 h黑暗/8 h光照条件下生长叶片出现先萎蔫后白化现象,采用台盼蓝染色的方法研究萎蔫及白化苗的死亡情况,结果证实突变体sdl1萎蔫处发生细胞死亡,但细胞完全死亡(完全白化)后不能被染色,所以台盼蓝染色只能对突变体sdl1细胞死亡的早期进行鉴定.

  19. Deletion of the c-kit protooncogene in the human developmental defect piebald trait

    Energy Technology Data Exchange (ETDEWEB)

    Fleischman, R.A.; Stastny, V.; Zneimer, S. (Univ. of Texas, Dallas (United States)); Saltman, D.L. (Genelabs, Inc., Redwood City, CA (United States))

    1991-12-01

    The protooncogene c-kit is critical for development of hematopoietic stem cells, germ cells, and melanoblasts in the mouse. Homozygous mutations of this gene in the mouse cause anemia, infertility, and albinism, whereas heterozygous mutant mice usually exhibit only a white forehead blaze and depigmentation of the ventral body, tail, and feet. The heterozygous mouse phenotype is very similar to human piebald trait, which is characterized by a congenital white hair forelock and ventral and extremity depigmentation. To investigate the possibility that alterations in the human c-kit gene may be a cause of piebald trait, DNA from seven unrelated affected individuals was examined by Southern blot analysis. One subject, although cytogenetically normal, has a heterozygous deletion of the c-kit protooncogene. This deletion encompasses the entire coding region for c-kit and also involves the closely linked gene for platelet-derived growth factor receptor {alpha}. These findings provide molecular evidence mapping piebald trait to the c-kit locus on chromosome 4. Although the authors cannot exclude the involvement of other closely linked genes, the demonstration of a genomic c-kit deletion in one subject with piebald trait and the marked concordance of the human and mouse phenotypes provide strong evidence for the role of c-kit in the development of human melanocytes and in the pathogenesis of piebald trait.

  20. 白化病相关综合征的临床特征与产生机制

    Institute of Scientific and Technical Information of China (English)

    李洪义; 吴维青; 郑辉

    2005-01-01

    白化病(albinism)是具有色素缺失表现的一类遗传性疾病的总称,有很高的遗传异质性。根据色素缺失部位及有无其他表现,可分为3个类别,即:1.眼、皮肤、毛发都有色素缺乏的眼一皮肤白化病(oculocutaneous albinism,OCA),2.仅表现为眼色素缺乏的眼白化病(ocularal—binism,OA),3.既有眼-皮肤白化病表型又有其他异常的Hermansky—Pudlak综合征(Hermanskv—Pudlak syndrome,HPS)和Chediak—Higashi综合征(Chediak—Higashi syndrome,CHS)。本文主要概述HPS和CHS的临床特征及其产生机制。

  1. Complicated Crohn's-like colitis, associated with Hermansky-Pudlak syndrome, treated with Infliximab: a case report and brief review of the literature

    Directory of Open Access Journals (Sweden)

    Kouklakis George

    2007-12-01

    Full Text Available Abstract Introduction Hermansky-Pudlak syndrome (HPS is a rare autosomal recessive inherited disorder consisting of a triad of albinism, increased bleeding tendency secondary to platelet dysfunction, and systemic complications associated with ceroid depositions within the reticuloendothelial system. HPS has been associated with gastrointestinal (GI complications related to chronic granulomatous colitis with pathologic features suggestive of Crohn's disease. This colitis can be severe and has been reported to be poorly responsive to medical therapies including antibiotics, corticosteroids, sulfasalazine, mesalamine and azathioprine. Case presentation We report a patient with HPS which was complicated by inflammatory bowel disease with clinical and pathologic features of Crohn's disease, refractory to antibiotics, corticosteroids and azathioprine. A trial of infliximab was attempted and repeated infusions produced a complete response. Conclusion The occurrence of ileitis and perianal lesions and also the histopathological findings in our case suggest that HPS and Crohn's disease may truly be associated. Given this similarity and the failure of the standard medical therapy of corticosteroids and azathioprine, our patient received infliximab with marked clinical improvement.

  2. Genetic control of some morphological mutants in sunflower [Helianthus annuus L.

    International Nuclear Information System (INIS)

    Inheritance study of induced mutants is an important tool in genetic and breeding programs. Sunflower is one of the most important oil crops for which mutant collection is meager. Seeds of sunflower line AS-613 were irradiated with gamma rays and mutant phenotypes were traced until M4 generation. In M5 generation, the following traits were studied: dwarfing, branching, leaf shape, albinism, rosette, lack of apex and alternative leaves. In most cases, the mutated characters were controlled by a single recessive gene, while in two cases they were controlled by two recessive genes. In M5 progenies, segregation for two albino, one alternative leaves, one dwarfism, 5 branching, one rosette, 2 lacks of apex and 5 leaf shape mutants was recorded. Amongst five cases of branching, one was controlled by two recessive genes, where at least one homozygote recessive locus was necessary for branching. In one case, the lack of apex was controlled by two recessive genes and even only one dominant allele could provoke the normal plant

  3. Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43.

    Science.gov (United States)

    Barrat, F J; Auloge, L; Pastural, E; Lagelouse, R D; Vilmer, E; Cant, A J; Weissenbach, J; Le Paslier, D; Fischer, A; de Saint Basile, G

    1996-09-01

    The Chediak-Higashi syndrome (CHS) is a severe autosomal recessive condition, features of which are partial oculocutaneous albinism, increased susceptibility to infections, deficient natural killer cell activity, and the presence of large intracytoplasmic granulations in various cell types. Similar genetic disorders have been described in other species, including the beige mouse. On the basis of the hypothesis that the murine chromosome 13 region containing the beige locus was homologous to human chromosome 1, we have mapped the CHS locus to a 5-cM interval in chromosome segment 1q42.1-q42.2. The highest LOD score was obtained with the marker D1S235 (Zmax = 5.38; theta = 0). Haplo-type analysis enabled us to establish D1S2680 and D1S163, respectively, as the telomeric and the centromeric flanking markers. Multipoint linkage analysis confirms the localization of the CHS locus in this interval. Three YAC clones were found to cover the entire region in a conting established by YAC end-sequence characterization and sequence-tagged site mapping. The YAC contig contains all genetic markers that are nonrecombinant for the disease in the nine CHS families studied. This mapping confirms the previous hypothesis that the same gene defect causes CHS in human and beige pheno-type in mice and provides a genetic framework for the identification of candidate genes.

  4. Interactions between SNP Alleles at Multiple Loci Contribute to Skin Color Differences between Caucasoid and Mongoloid Subjects

    Directory of Open Access Journals (Sweden)

    Sumiko Anno, Takashi Abe, Takushi Yamamoto

    2008-01-01

    Full Text Available This study aimed to identify single nucleotide polymorphism (SNP alleles at multiple loci associated with racial differences in skin color using SNP genotyping. A total of 122 Caucasians in Toledo, Ohio and 100 Mongoloids in Japan were genotyped for 20 SNPs in 7 candidate genes, encoding the Agouti signaling protein (ASIP, tyrosinase-related protein 1 (TYRP1, tyrosinase (TYR, melanocortin 1 receptor (MC1R, oculocutaneous albinism II (OCA2, microphthalmia-associated transcription factor (MITF, and myosin VA (MYO5A. Data were used to analyze associations between the 20 SNP alleles using linkage disequilibrium (LD. Combinations of SNP alleles were jointly tested under LD for associations with racial groups by performing a χ2 test for independence. Results showed that SNP alleles at multiple loci can be considered the haplotype that contributes to significant differences between the two population groups and suggest a high probability of LD. Confirmation of these findings requires further study with other ethnic groups to analyze the associations between SNP alleles at multiple loci and skin color variation among races.

  5. Conceptualizing science learning as a collective social practice: changing the social pedagogical compass for a child with visual impairment

    Science.gov (United States)

    Fleer, Marilyn; March, Sue

    2015-09-01

    The international literature on science learning in inclusive settings has a long history, but it is generally very limited in scope. Few studies have been undertaken that draw upon a cultural-historical reading of inclusive pedagogy, and even less in the area of science education. In addition, we know next to nothing about the science learning of preschool children with visual impairment using cultural-historical theory. This paper seeks to fill this gap by presenting a study of one child with Albinism who participated in a unit of early childhood science where fairy tales were used for learning about the concepts of sound and growth. This paper reports upon the social and material conditions that were created to support learning in the preschool, whilst also examining how the learning of growth and sound were supported at home. The study found three new pedagogical features for inclusion: Imagination in science; Ongoing scientific narrative; and Scientific mirroring. It was found that when a dialectical reading of home and centre practices feature, greater insights into inclusive pedagogy for science learning are afforded, and a view of science as a collective enterprise emerges. It is argued that a cultural-historical conception of inclusion demands that the social conditions, rather than the biology of the child, is foregrounded, and through this greater insights into how science learning for children with visual impairment is gained.

  6. 茶树泛素活化酶基因全长cDNA克隆及序列分析%Cloning and Sequencing of UBA1 Gene Full-length cDNA from Tea Plant

    Institute of Scientific and Technical Information of China (English)

    邓婷婷; 吴扬; 李娟; 李银花; 黄建安; 刘仲华

    2012-01-01

    The cDNA-AFLP technology was applied to analyze gene expression during periodic albinism process of Anji Baicha. Some transcript-derived fragments (TDFs) were isolated occurring in both the albinistic and re-greening stage leaves. One of them showed a high similarity to ubiquitin-activating enzyme 1 (UBA\\) gene. Based on the fragment, the full length of UBAl gene with 3 764 bp (GenBank Accession No. JN180299) cDNA was obtained via rapid amplification of cDNA ends (RACE), named Camellia Sinensis UBA1 gene. It contained an open reading frame (ORF) encoding a polypeptide of 1 094 amino acid residues with a predicable molecular mass of 121 kD. Analysis of the nucleotide sequence and deduced amino acid sequence showed 82%, 81%, 79%, 79%, 77% homology with UBAl genes from Nicotiana tabacum, Ricinus communis, Oryza saliva subsp. Japonica, Triticum aestivum, Arabidopsis thaliana, respectively. Analysis by qRT-PCR showed that the transcript of UBAl was significantly up-regulated at the albinistic stage to 2.49-fold higher than that at the re-greening stage. This is a key enzyme in the ubiquitin-proteasome mediated protein degradation system. The clone and analysis of the tea plant UBAl gene establishes a good foundation for further study on the molecular mechanism of periodic albinism in Anji Baicha.%应用cDNA-AFLP技术分离安吉白茶阶段性返白过程中的差异表达基因,获得一白期表达上调片断TDF (transcript derived fragment,TDF).BLAST比对结果显示,该片段与其他物种的泛素活化酶基因有很高的相似性.通过SMART-RACE技术分别扩增出其3’和5’末端序列,成功获得该基因全长cDNA序列(GenBank登录号JN180299).所得序列全长3 764 bp,其开放阅读框编码1 094个氨基酸,蛋白分子量约为121 kD.该基因的氨基酸序列与烟草、蓖麻、水稻、小麦、拟南芥中的UBA1基因编码的氨基酸序列分别有82%、81%、79%、79%、77%的同源性.qRT-PCR分析表明,安吉白茶UBA1

  7. Impaired Lysosomal Integral Membrane Protein 2-dependent Peroxiredoxin 6 Delivery to Lamellar Bodies Accounts for Altered Alveolar Phospholipid Content in Adaptor Protein-3-deficient pearl Mice.

    Science.gov (United States)

    Kook, Seunghyi; Wang, Ping; Young, Lisa R; Schwake, Michael; Saftig, Paul; Weng, Xialian; Meng, Ying; Neculai, Dante; Marks, Michael S; Gonzales, Linda; Beers, Michael F; Guttentag, Susan

    2016-04-15

    The Hermansky Pudlak syndromes (HPS) constitute a family of disorders characterized by oculocutaneous albinism and bleeding diathesis, often associated with lethal lung fibrosis. HPS results from mutations in genes of membrane trafficking complexes that facilitate delivery of cargo to lysosome-related organelles. Among the affected lysosome-related organelles are lamellar bodies (LB) within alveolar type 2 cells (AT2) in which surfactant components are assembled, modified, and stored. AT2 from HPS patients and mouse models of HPS exhibit enlarged LB with increased phospholipid content, but the mechanism underlying these defects is unknown. We now show that AT2 in the pearl mouse model of HPS type 2 lacking the adaptor protein 3 complex (AP-3) fails to accumulate the soluble enzyme peroxiredoxin 6 (PRDX6) in LB. This defect reflects impaired AP-3-dependent trafficking of PRDX6 to LB, because pearl mouse AT2 cells harbor a normal total PRDX6 content. AP-3-dependent targeting of PRDX6 to LB requires the transmembrane protein LIMP-2/SCARB2, a known AP-3-dependent cargo protein that functions as a carrier for lysosomal proteins in other cell types. Depletion of LB PRDX6 in AP-3- or LIMP-2/SCARB2-deficient mice correlates with phospholipid accumulation in lamellar bodies and with defective intraluminal degradation of LB disaturated phosphatidylcholine. Furthermore, AP-3-dependent LB targeting is facilitated by protein/protein interaction between LIMP-2/SCARB2 and PRDX6 in vitro and in vivo Our data provide the first evidence for an AP-3-dependent cargo protein required for the maturation of LB in AT2 and suggest that the loss of PRDX6 activity contributes to the pathogenic changes in LB phospholipid homeostasis found HPS2 patients. PMID:26907692

  8. A model of progressive photo-oxidative degeneration and inflammation in the pigmented C57BL/6J mouse retina.

    Science.gov (United States)

    Natoli, Riccardo; Jiao, Haihan; Barnett, Nigel L; Fernando, Nilisha; Valter, Krisztina; Provis, Jan M; Rutar, Matt

    2016-06-01

    Light-induced degeneration in rodent retinas is an established model for of retinal degeneration, including the roles of oxidative stress and neuroinflammatory activity. In these models, photoreceptor death is elicited via photo-oxidative stress, and is exacerbated by recruitment of subretinal macrophages and activation of immune pathways including complement propagation. Existing light damage models have relied heavily on albino rodents, and mostly using acute light stimuli. These albino models have proven valuable in uncovering the pathogenic mechanisms of such pathways in the context of retinal disease. However, their inherent albinism hinders comparability to normal retinal physiology, and also makes gene technology analysis time-consuming due to the predominance of the pigmented mouse strains in these applications. In this study, we characterise a new light damage model utilising C57BL/6J mice over a 7 day period of chronic light exposure. We use high-efficiency LED technology to deliver a sustained intensity of 100 k lux with negligible modulation of ambient temperature. We show that in the C57BL/6J mouse, chronic light exposure elicits the cardinal features of light damage including photoreceptor degeneration, atrophy of the choriocapillaris, decreased retinal function and increases in oxidative stress markers 4-HNE and 8-OHG, which emerge progressively over the 7 day period of exposure. These changes are accompanied by robust recruitment of IBA1+ and F4/80 + microglia/macrophages to the ONL and subretinal space, followed the strong up-regulation of monocyte-chemoattractants Ccl2, Ccl3, and Ccl12, as well as increases in expression of complement component C3. These findings are in agreement with prior damage models conducted in albino rodents such as Balb/c mice, and support the use of this new model in further investigating the causative features of oxidative stress and inflammation in retinal disease. PMID:27155143

  9. A three-dimensional model of mammalian tyrosinase active site accounting for loss of function mutations.

    Science.gov (United States)

    Schweikardt, Thorsten; Olivares, Concepción; Solano, Francisco; Jaenicke, Elmar; García-Borrón, José Carlos; Decker, Heinz

    2007-10-01

    Tyrosinases are the first and rate-limiting enzymes in the synthesis of melanin pigments responsible for colouring hair, skin and eyes. Mutation of tyrosinases often decreases melanin production resulting in albinism, but the effects are not always understood at the molecular level. Homology modelling of mouse tyrosinase based on recently published crystal structures of non-mammalian tyrosinases provides an active site model accounting for loss-of-function mutations. According to the model, the copper-binding histidines are located in a helix bundle comprising four densely packed helices. A loop containing residues M374, S375 and V377 connects the CuA and CuB centres, with the peptide oxygens of M374 and V377 serving as hydrogen acceptors for the NH-groups of the imidazole rings of the copper-binding His367 and His180. Therefore, this loop is essential for the stability of the active site architecture. A double substitution (374)MS(375) --> (374)GG(375) or a single M374G mutation lead to a local perturbation of the protein matrix at the active site affecting the orientation of the H367 side chain, that may be unable to bind CuB reliably, resulting in loss of activity. The model also accounts for loss of function in two naturally occurring albino mutations, S380P and V393F. The hydroxyl group in S380 contributes to the correct orientation of M374, and the substitution of V393 for a bulkier phenylalanine sterically impedes correct side chain packing at the active site. Therefore, our model explains the mechanistic necessity for conservation of not only active site histidines but also adjacent amino acids in tyrosinase. PMID:17850513

  10. Functional assessment of human coding mutations affecting skin pigmentation using zebrafish.

    Directory of Open Access Journals (Sweden)

    Zurab R Tsetskhladze

    Full Text Available A major challenge in personalized medicine is the lack of a standard way to define the functional significance of the numerous nonsynonymous, single nucleotide coding variants that are present in each human individual. To begin to address this problem, we have used pigmentation as a model polygenic trait, three common human polymorphisms thought to influence pigmentation, and the zebrafish as a model system. The approach is based on the rescue of embryonic zebrafish mutant phenotypes by "humanized" zebrafish orthologous mRNA. Two hypomorphic polymorphisms, L374F in SLC45A2, and A111T in SLC24A5, have been linked to lighter skin color in Europeans. The phenotypic effect of a second coding polymorphism in SLC45A2, E272K, is unclear. None of these polymorphisms had been tested in the context of a model organism. We have confirmed that zebrafish albino fish are mutant in slc45a2; wild-type slc45a2 mRNA rescued the albino mutant phenotype. Introduction of the L374F polymorphism into albino or the A111T polymorphism into slc24a5 (golden abolished mRNA rescue of the respective mutant phenotypes, consistent with their known contributions to European skin color. In contrast, the E272K polymorphism had no effect on phenotypic rescue. The experimental conclusion that E272K is unlikely to affect pigmentation is consistent with a lack of correlation between this polymorphism and quantitatively measured skin color in 59 East Asian humans. A survey of mutations causing human oculocutaneous albinism yielded 257 missense mutations, 82% of which are theoretically testable in zebrafish. The developed approach may be extended to other model systems and may potentially contribute to our understanding the functional relationships between DNA sequence variation, human biology, and disease.

  11. Visual function of Egyptian children with low vision and the demographic determinants

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    El Byoumi Boshra

    2010-01-01

    Full Text Available Aims: To determine whether the LV Prasad-Functional Vision Questionnaire (LVP-FVQ could be used to assess self-reported visual function and quality of visual life in Egyptian school aged children. Materials and Methods: The LVP-FVQ was used to assess the quality of visual function in school-age children. All subjects were students at the time of assessment. Subjects underwent a visual function assessment that included distance and near visual acuity, contrast sensitivity, color vision and visual field examination where possible. Data analysis were for both descriptive and inference statistics. A P < 0.05 was considered statistically significant. Results: Fifty children aged 11.28 ± 3.5 years (range, 5 years to 18 years with moderate-to-severe visual impairment most of their lives were enrolled. Twenty-two subjects (44% had albinism, 18 (36% subjects had hereditary retinal dystrophy, 6 (12% subjects had cone dystrophy, 2 (4% subjects had bilateral amblyopia and 2 (4% subjects had congenital coloboma without other disabilities. The four most difficult tasks were related to the following daily activities alluded to in the questionnaire such as reading a textbook at arms length, copying from the blackboard, seeing somebody across the road and identifying colors. There was no statistically significant association between the demographic variables and the level of visual functioning, sex, age, type of school, family history or consanguinity (P > 0.05 for all variables. Conclusion: LVP-FVQ can be used to screen Egyptian children with visual impairment. Input and integration of the parents and the school teachers to evaluate the child s behavior at home and the school is essential to developing a balanced questionnaire.

  12. Radiosensitivity of three species of ground orchids (Spathoglottis plicata, S. kimballiana var. angustifolia and S. tomentosa) to acute gamma radiation

    International Nuclear Information System (INIS)

    A radiosensitivity study coupled with tissue culture technique was conducted as preliminary to mutation breeding of the three species of ground orchids (Spathoglottis plicata, S. kimballiana var. angustifolia, and S. tomentosa). It aimed to compare the effects of varying dose levels of gamma radiation applied to the germinated embryos (protocorms) of the three species. Also it sought to determine the lethal dose of gamma radiation on the three species and to determine their optimum dose or the dose level that will lead to production of more mutants. The protocorms of the three species were irradiated at 10 Gy, 20 Gy, 30 Gy, 40 Gy, and 50 Gy dose levels of gamma radiation. Results of the study showed that as the dose level administered increases, percent mortality of seedlings also increases. Further, seedling height, number of roots and root length decreases. However, there was an increase in number of leaves at certain dose levels due to the emergence of furcations, but further increase in the dose levels of radiation decreases the number of leaves.Furthermore, some qualitative characters such as albinism, pigmentation, forked leaves, furcations, and multiple branching came out as responses to gamma radiation. It further shows that the three species have varied radiosensitivity as affected by their individual phenotype. It was found that S. kimballiana var. angustifolia was the least radiosensitive among the species, and could have a great potential for a wide array of genetic variations due to the observed emergence of more morphological mutations that came out as effect of gamma radiation. (Author)

  13. Mutation breeding in Philippine Spathoglottis orchids

    International Nuclear Information System (INIS)

    Attempts to create genetic variability in Spathoglottis kimballiana var. angustifolia by mutation induction using the chemical mutagen colchicine was not successful. On the other hand, the physical mutagen gamma rays resulted in changes in morphological characteristics on flowering plants that had been subjected to 10 Gy acute radiation at protocorm stage. Most prominent are purple pigmentation on the flower stalk, shorter internodes or distance between flowers, thicker substance of individual flowers and wider or stouter leaves. The most desirable selection was successfully used as a female parent in breeding of Spathoglottis 'Lion of Singapore.' The characteristics of the hybrid produced were entirely different from those developed and registered by the Singapore Botanic Gardens. Radiosensitivity studies on this native species as well as Spathoglottis plicata, S. tomentosa and S. vanoverberghii showed that survival of irradiated protocorms decreased with increasing dose from 0 to 50 Gy. The average height of seedlings and length of longest root were significantly affected by gamma radiation. Several qualitative characteristics considered as results of mutations are lack of pigments or albinism, purple pigmentation on leaves, forked leaves, split seedlings or furcation, and multiple branching. However, majority of the putative mutant seedlings did not survive outside the culture vessel or reverted back to normal after growing under ambient conditions. Lethal dose after removal from culture vessel was found to be 20 Gy. For Spathoglottis plicata, embryos within the irradiated fruits produced by artificial self-pollination of flowers did not germinate when subjected to 30 Gy and higher dose levels of acute gamma rays. Meanwhile, 10 Gy of gamma radiation enhanced both shoot growth and root elongation as compared to the control and those at 20 Gy. (author)

  14. Residential mobility among foreign-born persons living in Sweden is associated with lower mortality

    Directory of Open Access Journals (Sweden)

    Björn Albin

    2010-07-01

    Full Text Available Björn Albin1,2, Katarina Hjelm1,2, Jan Ekberg3, Sölve Elmståhl41School of Health and Caring Sciences, Linnaeus University, Växjö, Sweden; 2Department of Health Sciences, Division of Geriatric Medicine, Lund University, Sweden; 3Centre of Labour Market Policy Research (CAFO, School of Management and Economics, Växjö University, Sweden; 4Department of Health Sciences, Division of Geriatric Medicine, Lund University, SwedenAbstract: There have been few longitudinal studies on the effect of within-country mobility on patterns of mortality in deceased foreign-born individuals. The results have varied; some studies have found that individuals who move around within the same country have better health status than those who do not change their place of residence. Other studies have shown that changing one’s place of residence leads to more self-reported health problems and diseases. Our aim was to analyze the pattern of mortality in deceased foreign-born persons living in Sweden during the years 1970–1999 in relation to distance mobility. Data from Statistics Sweden and the National Board of Health and Welfare was used, and the study population consisted of 281,412 ­foreign-born persons aged 16 years and over who were registered as living in Sweden in 1970. Distance mobility did not have a negative effect on health. Total mortality was lower (OR 0.71; 95% CI 0.69–0.73 in foreign-born persons in Sweden who had changed their county of residence during the period 1970–1990. Higher death rates were observed, after adjustment for age, in three ICD diagnosis groups “Injury and poisoning”, “External causes of injury and poisoning”, and “Diseases of the digestive system” among persons who had changed county of residence.Keywords: residential mobility, health, foreign-born, immigrant, Sweden, mortality

  15. Peach latent mosaic viroid: not so latent.

    Science.gov (United States)

    Flores, Ricardo; Delgado, Sonia; Rodio, María-Elena; Ambrós, Silvia; Hernández, Carmen; Serio, Francesco D I

    2006-07-01

    SUMMARY Taxonomy: Peach latent mosaic viroid (PLMVd) is the type species of the genus Pelamoviroid within the family Avsunviroidae of chloroplastic viroids with hammerhead ribozymes. Physical properties: A small circular RNA of 336-351 nt (differences in size result from the absence or presence of certain insertions) adopting a branched conformation stabilized by a pseudoknot between two kissing loops. This particular conformation is most likely responsible for the insolubility of PLMVd in highly saline conditions (in which other viroids adopting a rod-like conformation are soluble). Both polarity strands are able to form hammerhead structures and to self-cleave during replication as predicted by these ribozymes. Biological properties: Although most infections occur without conspicuous symptoms, certain PLMVd isolates induce leaf mosaics, blotches and in the most extreme cases albinism (peach calico, PC), flower streaking, delays in foliation, flowering and ripening, deformations and decolorations of fruits, which usually present cracked sutures and enlarged roundish stones, bud necrosis, stem pitting and premature ageing of the trees, which also adopt a characteristic growing pattern (open habit). The molecular determinant for PC has been mapped at a 12-14-nt insertion that folds into a hairpin capped by a U-rich loop present only in certain variants. PLMVd is horizontally transmitted by the propagation of infected buds and to a lesser extent by pruning tools and aphids, but not by pollen; the viroid is not vertically transmitted through seed. Interesting features: This provides a suitable system for studying how a minimal non-protein-coding catalytic RNA replicates (subverting a DNA-dependent RNA polymerase to transcribe an RNA template), moves, interferes with the metabolism of its host (inciting specific symptoms and a defensive RNA silencing response) and evolves following a quasi-species model characterized by a complex spectrum of variants.

  16. Non-thermal plasma treatment of hydrogen sulfide

    Energy Technology Data Exchange (ETDEWEB)

    Frost, L.J.; Hartvigsen, J.; Elangovan, S. [Ceramatec Inc., Salt Lake City, UT (United States)

    2009-07-01

    This paper described a non-thermal plasma reforming process to treat hydrogen sulfide (H{sub 2}S) in heavy hydrocarbons. H{sub 2}S is present in natural gas, petroleum, and various process gases. It is an unwanted compound that is generally removed using an amine extraction process followed by a Claus process. Ceramatec Inc. has developed a GlidArc plasma reformer to recover some of the hydrogen from the H{sub 2}S. Non-thermal plasma reforming breaks hydrogen sulfide into hydrogen and elemental sulphur. Ceramatec has established the catalytic nature of the non-thermal plasma generated by its GlidArc plasma reformer. This treatment process is still in the laboratory stage, but it offers the possibility of a new method to treat acid gas that will provide an opportunity to recover hydrogen that is currently burned to water during the Claus sulphur removal process. Ceramatec, in conjunction with Albin Czernichowski of ECP in France, has demonstrated the ability to reform a variety of hydrocarbons using the non-thermal plasma catalyzed reaction. The plasma reaction can be initiated in either a partial oxidation or steam reforming mode. Multiple hydrocarbons can be processed by the same unit with only control parameters changing to meet the requirements of the individual hydrocarbons being processed. Although a tested unit did not accomplish complete conversion, some additional options will be tested that are expected to increase the conversion under an existing program operated by the United States Department of Energy. 4 refs., 9 figs.

  17. Development of a novel pink-eyed dilution mouse model showing progressive darkening of the eyes and coat hair with aging.

    Science.gov (United States)

    Ishikawa, Akira; Sugiyama, Makoto; Hondo, Eiichi; Kinoshita, Keiji; Yamagishi, Yuki

    2015-01-01

    Oca2(p-cas) (oculocutaneous albinism II; pink-eyed dilution castaneus) is a coat color mutant gene on mouse chromosome 7 that arose spontaneously in wild Mus musculus castaneus mice. Mice homozygous for Oca2(p-cas) usually exhibit pink eyes and gray coat hair on the non-agouti genetic background, and this ordinary phenotype remains unchanged throughout life. During breeding of a mixed strain carrying this gene on the C57BL/6J background, we discovered a novel spontaneous mutation that causes darkening of the eyes and coat hair with aging. In this study, we developed a novel mouse model showing this unique phenotype. Gross observations revealed that the pink eyes and gray coat hair of the novel mutant young mice became progressively darker in color by approximately 3 months after birth. Light and transmission-electron microscopic observations revealed a marked increase in melanin pigmentation of coat hair shafts and choroid of the eye in the novel mice compared to that in the ordinary mice. Sequence analysis of Oca2(p-cas) revealed a 4.1-kb deletion involving exons 15 and 16 of its wild-type gene. However, there was no sequence difference between the two types of mutant mice. Mating experiments suggested that the novel mutant phenotype was not inherited in a simple fashion, due to incomplete penetrance. The novel spontaneous mutant mouse is the first example of progressive hair darkening animals and is an essential animal model for understanding of the regulation mechanisms of melanin biosynthesis with aging. PMID:25739360

  18. Enrichment and analysis of secretory lysosomes from lymphocyte populations

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    Leippe Matthias

    2009-07-01

    Full Text Available Abstract Background In specialized cells, such as mast cells, macrophages, T lymphocytes and Natural Killer cells in the immune system and for instance melanocytes in the skin, secretory lysosomes (SL have evolved as bifunctional organelles that combine degradative and secretory properties. Mutations in lysosomal storage, transport or sorting molecules are associated with severe immunodeficiencies, autoimmunity and (partial albinism. In order to analyze the function and content of secretory lysosomes in different cell populations, an efficient enrichment of these organelles is mandatory. Results Based on a combination of differential and density gradient centrifugation steps, we provide a protocol to enrich intact SL from expanded hematopoietic cells, here T lymphocytes and Natural Killer cells. Individual fractions were initially characterized by Western blotting using antibodies against an array of marker proteins for intracellular compartments. As indicated by the presence of LAMP-3 (CD63 and FasL (CD178, we obtained a selective enrichment of SL in one of the resulting organelle fractions. The robustness and reproducibility of the applied separation protocol was examined by a high-resolution proteome analysis of individual SL preparations of different donors by 2D difference gel electrophoresis (2D-DIGE. Conclusion The provided protocol is readily applicable to enrich and isolate intact secretory vesicles from individual cell populations. It can be used to compare SL of normal and transformed cell lines or primary cell populations from healthy donors and patients with lysosomal storage or transport diseases, or from corresponding mutant mice. A subsequent proteome analysis allows the characterization of molecules involved in lysosomal maturation and cytotoxic effector function at high-resolution.

  19. Red mangrove life history variables along latitudinal and anthropogenic stress gradients.

    Science.gov (United States)

    Proffitt, C Edward; Travis, Steven

    2014-06-01

    Mangroves migrate northward in Florida and colonize marshes historically dominated by salt marsh species. In theory, this migration should be facilitated by greater numbers of propagules stemming from increased reproductive activity and greater genetic variability caused by outcrossing. We aimed to determine if stand reproduction and % outcrossing were affected by cold stress (stress increases with latitude), anthropogenic stress (human population density as a proxy), and years since a major hurricane. Further, we wished to determine if mutation rate varied with the stressors and if that affected stand reproduction. Both coasts of Florida from the southern Florida Keys to Tampa Bay on the Gulf of Mexico coast, and Merritt Island on the Atlantic coast. We conducted field surveys of frequency of reproducing trees (104,211 trees surveyed in 102 forested stands), incidence of trees showing albinism in propagules, and% outcrossing estimated from the ratio of albino:normal propagules. Structural equation modeling (SEM) was used to test a conceptual model that served as a multivariate hypothesis. Reproductive frequencies varied by site and increased with latitude although more strongly on the Gulf coast. Our SEM results indicate that outcrossing increases in this predominately selfing species under conditions of cold and anthropogenic stress, and that this increases reproductive output in the population. Further, we find that increased mutation rates suppress stand reproductive output but there is no significant relationship between outcrossing and mutation rate. Tree size responded to stressors but did not affect stand reproduction. Reproduction increased with years since major hurricane. Potential for colonization of northern Florida salt marshes by mangroves is enhanced by increased reproductive rates that provides more propagules and outcrossing that should enhance genetic variation thereby promoting adaptation to novel environmental conditions. Natural (cold) stress

  20. Sorting and targeting of melanosomal membrane proteins: signals, pathways, and mechanisms.

    Science.gov (United States)

    Setaluri, V

    2000-06-01

    Newly synthesized melanosomal proteins, like many other cellular proteins, traverse through a series of intracellular compartments en route to melanosomes. Entry and exit of proteins through these compartments is orchestrated by cellular sorting machinery that recognize specific sorting signals. Melanosomal membrane proteins begin their intracellular journey upon co-translational importation into the endoplasmic reticulum (ER). The biosynthetic output of tyrosinase, the key melanogenic enzyme, appears to be regulated by quality-control events at the ER, the 'port of entry' to the secretory pathway. Following maturation in the ER and through the Golgi, the sorting of these proteins in the trans-Golgi network for intracellular retention and transport along endosome/lysosome pathway requires cytoplasmically exposed signals. A di-leucine motif, present in the cytoplasmic tails of most melanosomal proteins, and its interaction with adaptor protein (AP) complexes, specifically AP-3, are critical for these events. Defects in sorting signals and the cytosolic components that interact with these signals result in a number of murine coat color phenotypes and cause human pigmentary disorders. Thus, missense or frame-shift mutations that produce truncated tyrosinase lacking the melanosomal sorting signal(s) appear to be responsible for murine platinum coat color phenotypes and a proportion of human oculocutaneous albinism-1; mutations in AP-3 appear to be responsible for the mocha phenotype in mice and Hermansky-Pudlak-like syndrome in man. Additional signals and sorting steps downstream of AP-3 appear to be required for endosomal sorting and targeting proteins to melanosomes. Signals and mechanisms that sequester melanosomal proteins from endosomes/lysosomes are not understood. Potential candidates that mediate such processes include proteins encoded by lyst and pallid genes. The common occurrence of abnormalities in melanosomes in many storage-pool disorders suggests that

  1. Chromosomal mapping, gene structure and characterization of the human and murine RAB27B gene

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    Huxley Clare

    2001-02-01

    Full Text Available Abstract Background Rab GTPases are regulators of intracellular membrane traffic. The Rab27 subfamily consists of Rab27a and Rab27b. Rab27a has been recently implicated in Griscelli Disease, a disease combining partial albinism with severe immunodeficiency. Rab27a plays a key role in the function of lysosomal-like organelles such as melanosomes in melanocytes and lytic granules in cytotoxic T lymphocytes. Little is known about Rab27b. Results The human RAB27B gene is organised in six exons, spanning about 69 kb in the chromosome 18q21.1 region. Exon 1 is non-coding and is separated from the others by 49 kb of DNA and exon 6 contains a long 3' untranslated sequence (6.4 kb. The mouse Rab27b cDNA shows 95% identity with the human cDNA at the protein level and maps to mouse chromosome 18. The mouse mRNA was detected in stomach, large intestine, spleen and eye by RT-PCR, and in heart, brain, spleen and kidney by Northern blot. Transient over-expression of EGF-Rab27b fusion protein in cultured melanocytes revealed that Rab27b is associated with melanosomes, as observed for EGF-Rab27a. Conclusions Our results indicate that the Rab27 subfamily of Ras-like GTPases is highly conserved in mammals. There is high degree of conservation in sequence and gene structure between RAB27A and RAB27B genes. Exogenous expression of Rab27b in melanocytes results in melanosomal association as observed for Rab27a, suggesting the two Rab27 proteins are functional homologues. As with RAB27A in Griscelli Disease, RAB27B may be also associated with human disease mapping to chromosome 18.

  2. Chediak-Higashi综合征1例分析并文献复习%A case report of Chediak-Higashi syndrome and literature review

    Institute of Scientific and Technical Information of China (English)

    刘琳; 何勤

    2011-01-01

    Objective To study the clinical features of Chediak-Higashi Syndrome (CHS) and highlight its recognition. Methods One case of CHS was reported and the related literatures were reviewed. Results Chediak-Higashi Syndrome is a very rare autosomal recessive disease characterized by partial albinism, severe immunedeficiency, recurrent infections, progressive neurological defects and lymphoproliferative syndrome. Final diagnosis depends on the microscopic finding of large lysosome granules in neutrophils. Allogeneic transplantation is expected to be an effective treatment for CHS. Conclusion Chediak-Higashi Syndrome is a very rare disease with complicated clinical presentation and poor prognosis.It is easy to make a misdiagnosis and requires deep understanding.%目的 探讨Chediak-Higashi综合征的临床特点,以提高对本病的认识.方法 分析1例Chediak-Higashi综合征患儿的临床资料,并对相关文献进行复习.结果 本例Chediak-Higashi综合征患儿主要表现为皮肤、毛发色素减退、易感染、眼畏光、出血倾向、肝脾淋巴结肿大、外周神经病变等.血涂片或骨髓片见中性粒细胞内特征性的异常粗大溶酶体颗粒是确诊依据.造血干细胞移植是有望治愈本病的唯一方法.结论 Chediak-Higashi综合征较为罕见,临床表现复杂,预后差,极易漏诊误诊,应提高对本病的认识.

  3. Dermatologic Diseases Presenting with Pigmentation Disorders in Children: A Single Center Experience

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    Ayse Akbas

    2015-12-01

    Full Text Available Background: To determine the incidence and demographic characteristics of skin diseases presenting with hyperpigmentation in children applying to the dermatology department. Methods: A total of 2815 children between the ages of 0 to 16 who applied to the dermatology clinic with the complaints of hyperpigmentation disorders were evaluated. The age, gender, socioeconomic status, place of residence and demographic characteristics of children with abnormal pigmentation skin lesions were investigated. Results: A total of 2815 children applied to the dermatology clinic during the study period. Of these patients 1491 were female (53% and 1324 were male (47%. Of these 266 (9.4% were diagnosed with skin disorders presenting with hyperpigmention. The causes of hyperpigmentation in these patients were was follows; pityriasis alba (2.6%, melanocytic nevus (2.1%, vitiligo (1.8% postinflammatory hyperpigmentation (0.5%, and postinflammatory hypopigmentation (0.5%. According to the gender, p.alba, vitiligo, Becker nevus, acanthosis nigricans, tuberosclerosis and albinism were seen more in boys and nevus depigmentosus ephelis, postinflammatory hyperpigmentation/hypopigmentation and melanocytic nevus were seen more in the girls. Pitriyazis versicolor was seen equally in both genders. According to age groups, melanocytis nevus were found to be more frequent between the ages of 0-2 and 12-16, whereas pityrsasis versicolor was more frequent in ages 12-16 and P. alba in the 3-11 age group. Conclusions: There are quite a substantial number of pigmentation diseases occurring in children. Early diagnosis and treatment are important because although these diseases mainly cause cosmetic problems, they can decrease the quality of life. Here, we attempted to define the demographic characteristics of diseases presenting with disorders in pigmentation in children.

  4. 基于灰色聚类决策的图像分割性能评价%Performance evaluation based on grey clustering of segmentation

    Institute of Scientific and Technical Information of China (English)

    吴志川; 彭国华

    2012-01-01

    In view of the performance analyses of image segmentation, a hierarchical synthetic evaluation method is proposed based on the grey clustering. The method obtains the appropriate albinism function by target characteristic, then the scattered information produces cluster matrix. The new method can distinguish the performances from different segmentation algorithms easily. The experiments show that the method has higher sensitivity and lower singularity than other methods, and can be more effectively used to analyze the performance of segmentation algorithms.%针对图像分割的性能分析问题,运用灰色聚类决策技术建立一种多层次的综合评估方法.该方法通过图像多个分割指标的特点,得到合适的白化函数,再通过白化函数和灰色聚类权值的分析计算,将收集到的分散信息生成灰色聚类矩阵,以此对图像分割性能进行分类;其评估结果的离散性高,便于区分不同分割算法的性能.应用实例表明,该方法很好地克服了以往评估方法的不灵敏性和奇异性,从而使评判更容易进行.

  5. C-terminus glycans with critical functional role in the maturation of secretory glycoproteins.

    Directory of Open Access Journals (Sweden)

    Daniela Cioaca

    Full Text Available The N-glycans of membrane glycoproteins are mainly exposed to the extracellular space. Human tyrosinase is a transmembrane glycoprotein with six or seven bulky N-glycans exposed towards the lumen of subcellular organelles. The central active site region of human tyrosinase is modeled here within less than 2.5 Å accuracy starting from Streptomyces castaneoglobisporus tyrosinase. The model accounts for the last five C-terminus glycosylation sites of which four are occupied and indicates that these cluster in two pairs--one in close vicinity to the active site and the other on the opposite side. We have analyzed and compared the roles of all tyrosinase N-glycans during tyrosinase processing with a special focus on the proximal to the active site N-glycans, s6:N337 and s7:N371, versus s3:N161 and s4:N230 which decorate the opposite side of the domain. To this end, we have constructed mutants of human tyrosinase in which its seven N-glycosylation sites were deleted. Ablation of the s6:N337 and s7:N371 sites arrests the post-translational productive folding process resulting in terminally misfolded mutants subjected to degradation through the mannosidase driven ERAD pathway. In contrast, single mutants of the other five N-glycans located either opposite to the active site or into the N-terminus Cys1 extension of tyrosinase are temperature-sensitive mutants and recover enzymatic activity at the permissive temperature of 31°C. Sites s3 and s4 display selective calreticulin binding properties. The C-terminus sites s7 and s6 are critical for the endoplasmic reticulum retention and intracellular disposal. Results herein suggest that individual N-glycan location is critical for the stability, regional folding control and secretion of human tyrosinase and explains some tyrosinase gene missense mutations associated with oculocutaneous albinism type I.

  6. Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin

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    Gahl William A

    2005-09-01

    Full Text Available Abstract Background Hermansky-Pudlak syndrome (HPS is a disorder of lysosome-related organelle biogenesis characterized by oculocutaneous albinism and prolonged bleeding. These clinical findings reflect defects in the formation of melanosomes in melanocytes and dense bodies in platelets. HPS type-3 (HPS-3 results from mutations in the HPS3 gene, which encodes a 1004 amino acid protein of unknown function that contains a predicted clathrin-binding motif (LLDFE at residues 172–176. Results Clathrin was co-immunoprecipitated by HPS3 antibodies from normal but not HPS3 null melanocytes. Normal melanocytes expressing a GFP-HPS3 fusion protein demonstrated partial co-localization of GFP-HPS3 with clathrin following a 20°C temperature block. GFP-HPS3 in which the predicted clathrin-binding domain of HPS3 was mutated (GFP-HPS3-delCBD did not co-localize with clathrin under the same conditions. Immunoelectron microscopy of normal melanocytes expressing GFP-HPS3 showed co-localization of GFP-HPS3 with clathrin, predominantly on small vesicles in the perinuclear region. In contrast, GFP-HPS3-delCBD did not co-localize with clathrin and exhibited a largely cytoplasmic distribution. Conclusion HPS3 associates with clathrin, predominantly on small clathrin-containing vesicles in the perinuclear region. This association most likely occurs directly via a functional clathrin-binding domain in HPS3. These results suggest a role for HPS3 and its protein complex, BLOC-2, in vesicle formation and trafficking.

  7. Effect of ovary induction on bread wheat anther culture: ovary genotype and developmental stage, and candidate gene association.

    Directory of Open Access Journals (Sweden)

    Ana María Castillo

    2015-06-01

    Full Text Available Ovary pre-conditioned medium and ovary co-culture increased the efficiency of green doubled haploid plant production in bread wheat anther culture. The positive effect of this medium led to a 6- and 11-fold increase in the numbers of embryos and green plants, respectively, having a greater effect on a medium-low responding cultivar. Ovary genotype and developmental stage significantly affected microspore embryogenesis. By he use of Caramba ovaries it was possible to reach a 2-fold increase in the number of embryos and green plants, and to decrease the rate of albinism. Mature ovaries from flowers containing microspores at a late binucleate stage raised the number of embryos and green plants by 25% and 46% as compared to immature ovaries (excised from flowers with microspores at a mid-late uninucleate stage. The highest numbers of embryos and green plants were produced when using mature Caramba ovaries. Ovaries from Galeón, Tigre and Kilopondio cultivars successfully induced microspore embryogenesis at the same rate as Caramba ovaries. Moreover, Tigre ovaries raised the percentage of spontaneous chromosome doubling up to 71%. Attempts were made to identify molecular mechanisms associated to the inductive effect of the ovaries on microspore embryogenesis. The genes TAA1b, FLA26 and WALI6 associated to wheat microspore embryogenesis, the CGL1 gene involved in glycan biosynthesis or degradation, and the FER gene involved in the ovary signalling process were expressed and/or induced at different rates during ovary culture. The expression pattern of FLA26 and FER could be related to the differences between genotypes and developmental stages in the inductive effect of the ovary. Our results open opportunities for new approaches to increase bread wheat doubled haploid production by anther culture, and to identify the functional components of the ovary inductive effect on microspore embryogenesis.

  8. Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4 phenotype

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    Fernandez Bridget A

    2012-11-01

    Full Text Available Abstract Background Severe congenital neutropenia type 4 (SCN4 is an autosomal recessive disorder caused by mutations in the third subunit of the enzyme glucose-6-phosphatase (G6PC3. Its core features are congenital neutropenia and a prominent venous skin pattern, and affected individuals have variable birth defects. Oculocutaneous albinism type 4 (OCA4 is caused by autosomal recessive mutations in SLC45A2. Methods We report a sister and brother from Newfoundland, Canada with complex phenotypes. The sister was previously reported by Cullinane et al., 2011. We performed homozygosity mapping, next generation sequencing and conventional Sanger sequencing to identify mutations that cause the phenotype in this family. We have also summarized clinical data from 49 previously reported SCN4 cases with overlapping phenotypes and interpret the medical histories of these siblings in the context of the literature. Results The siblings’ phenotype is due in part to a homozygous mutation in G6PC3, [c.829C > T, p.Gln277X]. Their ages are 38 and 37 years respectively and they are the oldest SCN4 patients published to date. Both presented with congenital neutropenia and later developed Crohn disease. We suggest that the latter is a previously unrecognized SCN4 manifestation and that not all affected individuals have an intellectual disability. The sister also has a homozygous mutation in SLC45A2, which explains her severe oculocutaneous hypopigmentation. Her brother carried one SLC45A2 mutation and was diagnosed with “partial OCA” in childhood. Conclusions This family highlights that apparently novel syndromes can in fact be caused by two known autosomal recessive disorders.

  9. Mutations in a plastid-localized elongation factor G alter early stages of plastid development in Arabidopsis thaliana

    Directory of Open Access Journals (Sweden)

    Hangarter Roger P

    2007-07-01

    Full Text Available Abstract Background Proper development of plastids in embryo and seedling tissues is critical for plant development. During germination, plastids develop to perform many critical functions that are necessary to establish the seedling for further growth. A growing body of work has demonstrated that components of the plastid transcription and translation machinery must be present and functional to establish the organelle upon germination. Results We have identified Arabidopsis thaliana mutants in a gene that encodes a plastid-targeted elongation factor G (SCO1 that is essential for plastid development during embryogenesis since two T-DNA insertion mutations in the coding sequence (sco1-2 and sco1-3 result in an embryo-lethal phenotype. In addition, a point mutation allele (sco1-1 and an allele with a T-DNA insertion in the promoter (sco1-4 of SCO1 display conditional seedling-lethal phenotypes. Seedlings of these alleles exhibit cotyledon and hypocotyl albinism due to improper chloroplast development, and normally die shortly after germination. However, when germinated on media supplemented with sucrose, the mutant plants can produce photosynthetically-active green leaves from the apical meristem. Conclusion The developmental stage-specific phenotype of the conditional-lethal sco1 alleles reveals differences in chloroplast formation during seedling germination compared to chloroplast differentiation in cells derived from the shoot apical meristem. Our identification of embryo-lethal mutant alleles in the Arabidopsis elongation factor G indicates that SCO1 is essential for plant growth, consistent with its predicted role in chloroplast protein translation.

  10. Red mangrove (Rhizophora mangle) reproduction and seedling colonization after Hurricane Charley: Comparisons of Charlotte Harbor and Tampa Bay

    Science.gov (United States)

    2006-01-01

    Reproductive aspects of life history are known to be important in recovery following disturbance in many plant species although this has not been well studied in mangroves. Hurricane Charley devastated large areas of mangroves in Charlotte Harbor, Florida, in August 2004. We surveyed 6 forests in Charlotte Harbor (2002, 2003, and 2005) and 16 in Tampa Bay, Florida (2001, 2002, 2003, and 2005) for total numbers of reproducing trees and trees heterozygotic for albinism that produce both normal and albino propagules. Tree size (estimated height and diameter at breast height) was also recorded for sentinel heterozygotic trees. Total number of reproducing trees km-1 was used as an index of reproductive output of the population, and deviation from the 3:1 (normal:albino propagules) ratio on heterozygotic trees expected with 100% selfing was used to estimate outcrossing. Numbers of Rhizophora mangle reproducing trees km-1 of shoreline in Charlotte Harbor were reduced by an order of magnitude following Hurricane Charley, while numbers of reproducing trees in Tampa Bay were similar to those of previous years. Reduced reproduction in Charlotte Harbor was accompanied by fewer new recruits in plots on Sanibel and Captiva Islands. Numbers of new recruits after the storm also tended to be fewer in plots where canopy loss was greater. More new recruits occurred in sites that had higher densities of pre-storm Rhizophora seedlings and greater relative dominance by Rhizophora. Outcrossing of sentinel trees was 2.5 times greater in Charlotte Harbor (mean site-1 = 33.6 ?? 6.7%; with 17% of forest sites completely selfing) than in Tampa Bay (mean site-1 = 13.4 ?? 4.7%; with 40% of sites completely selfing), although the implications for seedling recruitment of this difference are not known. ?? 2006 Estuarine Research Federation.

  11. Albino mutation rates in red mangroves (Rhizophora mangle L.) as a bioassay of contamination history in Tampa Bay, Florida, USA

    Science.gov (United States)

    2005-01-01

    We assessed the sensitivity of a viviparous estuarine tree species, Rhizophora mangle, to historic sublethal mutagenic stress across a fine spatial scale by comparing the frequency of trees producing albino propagules in historically contaminated (n=4) and uncontaminated (n=11) forests in Tampa Bay, Florida, USA. Data from uncontaminated forests were used to provide estimates of background mutation rates. We also determined whether other fitness parameters were negatively correlated with mutagenic stress (e.g., degree of outcrossing and numbers of reproducing trees km-1). Contaminated sites in Tampa Bay had significantly higher frequencies of trees that were heterozygous for albinism per 1000 total reproducing trees (FHT) than uncontaminated forests (mean ?? SE: 11.4 ?? 4.3 vs 4.3 ?? 0.73, P 25 yrs of subsequent recruitment and tree replacement may have allowed an initial elevation in the FHT to decay. Patterns of FHT were not explained by distance from the bay mouth or the degree of urbanization. However, there was a significant positive relationship between tree size and FHT (r=0.83, P<0.018), which suggests that forests with older or larger trees provide a more lasting record of cumulative mutagenic stress. No other fitness parameters correlated with FHT. There was a difference in FHT between two latitudes, as determined by comparing Tampa Bay with literature values for Puerto Rico. The sensitivity of this bioassay for the effects of mutagens will facilitate future monitoring of contamination events and comparisons of bay-wide recovery in future decades. Development of a database of FHT values for a range of subtropical and tropical estuaries is underway that will provide a baseline against which to compare mutational consequences of global change. ?? 2005, The Society of Wetland Scientists.

  12. Mosaic loss of 15q11q13 in a patient with hypomelanosis of Ito: Is there a role for the P gene?

    Energy Technology Data Exchange (ETDEWEB)

    Pellegrino, J.E.; Schnur, R.E.; Kline, R. [Children`s Hospital of Philadelphia, PA (United States)] [and others

    1994-09-01

    Hypomelanosis of Ito (HMI) is a heterogeneous and clinically variable disorder characterized by specific patterns of hypopigmentation on the limbs and trunk. Many different mosaic chromosomal abnormalities have been reported with this condition leading to the hypothesis that HMI may be a non-specific marker of chromosome mosaicism. We studied a patient with dysmorphia, mental retardation, behavioral disturbances and HMI. Cytogenetic analysis demonstrated that he was mosaic for an unbalanced translocation, 45,XY,-7,-15,+der(7)t(7;15)(q34;q13)/46,XY in both blood and skin rendering him monosomic for 7q34 to qter and 15pter to q13 in the cells containing the translocation. The human homologue (P) of the p gene, the product of the mouse pink-eyed dilution locus, maps to 15q11q13. Loss of this locus is believed to be the cause of the hypopigmentation seen in patients with deletions of 15q11q13 and the Prader-Willi and Angelman syndromes. Mutations within the P gene have also been associated with tyrosinase positive (type II) oculocutaneous albinism. By fluorescence in situ hybridization we demonstrated that our patient is deleted for one copy of the P gene in the cells with the unbalanced translocation as well as for two probes from the Prader-Willi/Angelman critical region. The myl gene, which maps to 15q22, was present on the translocated chromosome as expected. There is a previous report in the literature of an HMI patient who was mosaic for del(15)(q11), although the copy number of the P gene was not specifically determined. Although hypomelanosis of Ito is a heterogeneous disorder, we postulate that in our case, and potentially in others, this phenotype may result from loss of a specific pigmentation gene.

  13. Inter-chromosomal variation in the pattern of human population genetic structure

    Directory of Open Access Journals (Sweden)

    Baye Tesfaye M

    2011-05-01

    Full Text Available Abstract Emerging technologies now make it possible to genotype hundreds of thousands of genetic variations in individuals, across the genome. The study of loci at finer scales will facilitate the understanding of genetic variation at genomic and geographic levels. We examined global and chromosomal variations across HapMap populations using 3.7 million single nucleotide polymorphisms to search for the most stratified genomic regions of human populations and linked these regions to ontological annotation and functional network analysis. To achieve this, we used five complementary statistical and genetic network procedures: principal component (PC, cluster, discriminant, fixation index (FST and network/pathway analyses. At the global level, the first two PC scores were sufficient to account for major population structure; however, chromosomal level analysis detected subtle forms of population structure within continental populations, and as many as 31 PCs were required to classify individuals into homogeneous groups. Using recommended population ancestry differentiation measures, a total of 126 regions of the genome were catalogued. Gene ontology and networks analyses revealed that these regions included the genes encoding oculocutaneous albinism II (OCA2, hect domain and RLD 2 (HERC2, ectodysplasin A receptor (EDAR and solute carrier family 45, member 2 (SLC45A2. These genes are associated with melanin production, which is involved in the development of skin and hair colour, skin cancer and eye pigmentation. We also identified the genes encoding interferon-γ (IFNG and death-associated protein kinase 1 (DAPK1, which are associated with cell death, inflammatory and immunological diseases. An in-depth understanding of these genomic regions may help to explain variations in adaptation to different environments. Our approach offers a comprehensive strategy for analysing chromosome-based population structure and differentiation, and demonstrates the

  14. Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria.

    Science.gov (United States)

    Pierce, Sarah B; Spurrell, Cailyn H; Mandell, Jessica B; Lee, Ming K; Zeligson, Sharon; Bereman, Michael S; Stray, Sunday M; Fokstuen, Siv; MacCoss, Michael J; Levy-Lahad, Ephrat; King, Mary-Claire; Motulsky, Arno G

    2011-11-01

    Pentosuria is one of four conditions hypothesized by Archibald Garrod in 1908 to be inborn errors of metabolism. Mutations responsible for the other three conditions (albinism, alkaptonuria, and cystinuria) have been identified, but the mutations responsible for pentosuria remained unknown. Pentosuria, which affects almost exclusively individuals of Ashkenazi Jewish ancestry, is characterized by high levels of the pentose sugar L-xylulose in blood and urine and deficiency of the enzyme L-xylulose reductase. The condition is autosomal-recessive and completely clinically benign, but in the early and mid-20th century attracted attention because it was often confused with diabetes mellitus and inappropriately treated with insulin. Persons with pentosuria were identified from records of Margaret Lasker, who studied the condition in the 1930s to 1960s. In the DCXR gene encoding L-xylulose reductase, we identified two mutations, DCXR c.583ΔC and DCXR c.52(+1)G > A, each predicted to lead to loss of enzyme activity. Of nine unrelated living pentosuric subjects, six were homozygous for DCXR c.583ΔC, one was homozygous for DCXR c.52(+1)G > A, and two were compound heterozygous for the two mutant alleles. L-xylulose reductase was not detectable in protein lysates from subjects' cells and high levels of xylulose were detected in their sera, confirming the relationship between the DCXR genotypes and the pentosuric phenotype. The combined frequency of the two mutant DCXR alleles in 1,067 Ashkenazi Jewish controls was 0.0173, suggesting a pentosuria frequency of approximately one in 3,300 in this population. Haplotype analysis indicated that the DCXR c.52(+1)G > A mutation arose more recently than the DCXR c.583ΔC mutation.

  15. Simple generation of albino C57BL/6J mice with G291T mutation in the tyrosinase gene by the CRISPR/Cas9 system.

    Science.gov (United States)

    Mizuno, Seiya; Dinh, Tra Thi Huong; Kato, Kanako; Mizuno-Iijima, Saori; Tanimoto, Yoko; Daitoku, Yoko; Hoshino, Yoshikazu; Ikawa, Masahito; Takahashi, Satoru; Sugiyama, Fumihiro; Yagami, Ken-ichi

    2014-08-01

    Single nucleotide mutations (SNMs) are associated with a variety of human diseases. The CRISPR/Cas9 genome-editing system is expected to be useful as a genetic modification method for production of SNM-induced mice. To investigate whether SNM-induced mice can be generated by zygote microinjection of CRISPR/Cas9 vector and single-stranded DNA (ssDNA) donor, we attempted to produce albino C57BL/6J mice carrying the Tyr gene SNM (G291T) from pigmented C57BL/6J zygotes. We first designed and constructed a CRISPR/Cas9 expression vector for the Tyr gene (px330-Tyr-M). DNA cleavage activity of px330-Tyr-M at the target site of the Tyr gene was confirmed by the EGxxFP system. We also designed an ssDNA donor for homology-directed repair (HDR)-mediated gene modification. The px330-Tyr-M vector and ssDNA donor were co-microinjected into the pronuclei of 224 one-cell-stage embryos derived from C57BL/6J mice. We obtained 60 neonates, 28 of which showed the ocular albinism and absence of coat pigmentation. Genomic sequencing analysis of the albino mice revealed that the target of SNM, G291T in the Tyr gene, occurred in 11 mice and one founder was homozygously mutated. The remaining albino founders without Tyr G291T mutation also possessed biallelic deletion and insertion mutants adjacent to the target site in the Tyr locus. Simple production of albino C57BL/6J mice was provided by C57BL/6J zygote microinjection with px330-Tyr-M DNA vector and mutant ssDNA (G291T in Tyr) donor. A combination of CRISPR/Cas9 vector and optional mutant ssDNA could be expected to efficiently produce novel SNM-induced mouse models for investigating human diseases. PMID:24879364

  16. Evaluation of anti-parkinson’s activity of gentisic acid in different animal models

    Institute of Scientific and Technical Information of China (English)

    Kabra MP; Bhandari SS; Sharma A; Gupta RB

    2014-01-01

    Objective:To evaluate the neuroprotective activity ofGentisic acid inPD.The study was conducted on swiss albinFo mice(20-25 g) & wistar rats(200-250 g).Methods:Three behavioural models namely,Haloperidol induced catalepsy,Reserpine antagonism andHaloperidol induce orofacial dyskinesia were employed in this study,SwissAlbino mice(20-25 g) were used in first two models whileWistar rats(200-250 g) used in last one model.There are five group(n=6) in each animal model.Various behavior activity/parameter(cataleptic behavior, horizontal movements, rearing & grooming frequencies andDyskinesia activity like vacuous chewing & tongue protrusion) in different animal models were used to evaluate the anti-Parkinson’s activity ofGentisic acid.Results:Gentisic acid showed a significant(P<0.01) reduction in the duration of cataleptic behavior dose dependently when compared to haloperidol control group.Gentisic acid shows dose dependant increase in the frequency of horizontal movement and rearing behavior when compared to theReserpine control group.But, the effect ofGentisic acid on the frequency of grooming behavior was found to be insignificant.Gentisic acid(80 mg/kg) showed a significant (P<0.05) decrease in the frequency of vacuous chewing & tongue protrusion but the other dose tested were found to be insignificant in this respect.Conclusions:Results shows that the Gentisic acid produced dose dependent neuroprotective activity in different animal models ofPD.

  17. Red mangrove life history variables along latitudinal and anthropogenic stress gradients.

    Science.gov (United States)

    Proffitt, C Edward; Travis, Steven

    2014-06-01

    Mangroves migrate northward in Florida and colonize marshes historically dominated by salt marsh species. In theory, this migration should be facilitated by greater numbers of propagules stemming from increased reproductive activity and greater genetic variability caused by outcrossing. We aimed to determine if stand reproduction and % outcrossing were affected by cold stress (stress increases with latitude), anthropogenic stress (human population density as a proxy), and years since a major hurricane. Further, we wished to determine if mutation rate varied with the stressors and if that affected stand reproduction. Both coasts of Florida from the southern Florida Keys to Tampa Bay on the Gulf of Mexico coast, and Merritt Island on the Atlantic coast. We conducted field surveys of frequency of reproducing trees (104,211 trees surveyed in 102 forested stands), incidence of trees showing albinism in propagules, and% outcrossing estimated from the ratio of albino:normal propagules. Structural equation modeling (SEM) was used to test a conceptual model that served as a multivariate hypothesis. Reproductive frequencies varied by site and increased with latitude although more strongly on the Gulf coast. Our SEM results indicate that outcrossing increases in this predominately selfing species under conditions of cold and anthropogenic stress, and that this increases reproductive output in the population. Further, we find that increased mutation rates suppress stand reproductive output but there is no significant relationship between outcrossing and mutation rate. Tree size responded to stressors but did not affect stand reproduction. Reproduction increased with years since major hurricane. Potential for colonization of northern Florida salt marshes by mangroves is enhanced by increased reproductive rates that provides more propagules and outcrossing that should enhance genetic variation thereby promoting adaptation to novel environmental conditions. Natural (cold) stress

  18. 大亚湾典型生态系统状况调查与分析%Survey and analysis of typical ecosystem status in Daya Bay

    Institute of Scientific and Technical Information of China (English)

    柯东胜; 彭晓娟; 吴玲铃; 兰圣迎

    2009-01-01

    大亚湾典型生态系统状况调查表明:过度捕捞,乱捕及违禁捕捞使大亚湾水产资源大幅下降,传统的渔汛早已不复存在;岸线、海滩过度开发、非法盗猎、航道阻隔、海域环境污染和诸多人为误捕、滥杀和破坏产卵环境等原因,大亚湾绿海龟的生存环境受到严重威胁;港口开发和水下爆破等致使珊瑚礁群落的优势种发生改变及石珊瑚出现白化现象;大型海岸工程的建设和过度对滩涂的围垦养殖,导致大亚湾红树林多以小簇或单株零散分布,红树林生态系统已处于一种极不健康的状态;大亚湾地区的滨海湿地面积逐年减少,人工湿地面积逐渐增大,天然湿地林相退化严重,湿地的外貌和结构日趋简单,降低了湿地生态和环境的功能.%The survey of the typical ecosystem status was carried out in Daya Bay. The paper deals with the overfishing and violating fishing resulted in the aquatic stocks in Daya Bay, and then no regular fishing season formed, the excessive exploitation of shoreline and beach, unlawful poaching, shipping lane obstructing, and the marine polluting, spawning conditions destroyed by the green turtle habitat. The seaport construction and submarine explosion obviously affected the coral reef ecosystem and resulted in the dominant variation of coral reef community as well as albinism phinomena of coral reef. The excessive buildings in the seashore led to the mangrove distributing in little cluster or individual, hence the mangrove ecosystem was in unhealthy status. The coast wetland in Daya Bay was decreased year by year. While the man-made wetland area was gradually increased, the natural wetland forest phase was decreased seriously. The wetland appearance and pattern was of blankness and wetland ecosystem function dropped.

  19. The patient’s perspective of the feasibility of a patient-specific instrument in physiotherapy goal setting: a qualitative study

    Directory of Open Access Journals (Sweden)

    Stevens A

    2016-03-01

    Full Text Available Anita Stevens,1,2 Albine Moser,1,2 Albère Köke,1,3,4 Trudy van der Weijden,2 Anna Beurskens1,2 1Faculty of Health, Zuyd University of Applied Sciences, Heerlen, 2Department of Family Medicine, CAPHRI School for Public Health and Primary Care, Maastricht University, Maastricht, 3Adelante Centre of Research in Rehabilitation, Hoensbroek, 4Department of Rehabilitation Medicine, Maastricht University, Maastricht, the Netherlands Background: Patient participation in goal setting is important to deliver client-centered care. In daily practice, however, patient involvement in goal setting is not optimal. Patient-specific instruments, such as the Patient Specific Complaints (PSC instrument, can support the goal-setting process because patients can identify and rate their own problems. The aim of this study is to explore patients’ experiences with the feasibility of the PSC, in the physiotherapy goal setting. Method: We performed a qualitative study. Data were collected by observations of physiotherapy sessions (n=23 and through interviews with patients (n=23 with chronic conditions in physiotherapy practices. Data were analyzed using directed content analysis. Results: The PSC was used at different moments and in different ways. Two feasibility themes were analyzed. First was the perceived ambiguity with the process of administration: patients perceived a broad range of experiences, such as emotional and supportive, as well as feeling a type of uncomfortableness. The second was the perceived usefulness: patients found the PSC useful for themselves – to increase awareness and motivation and to inform the physiotherapist – as well as being useful for the physiotherapist – to determine appropriate treatment for their personal needs. Some patients did not perceive any usefulness and were not aware of any relation with their treatment. Patients with a more positive attitude toward questionnaires, patients with an active role, and health

  20. Eye Injuries Among Primary School Children in Enugu, Nigeria: Rural vs Urban.

    Science.gov (United States)

    Okpala, Nonso Ejikeme; Umeh, Rich Enujioke; Onwasigwe, Ernest Nnemeka

    2015-01-01

    A cross-sectional survey of the prevalence of eye injuries among primary school children in two noncontiguous local government areas of Enugu State of Nigeria was undertaken. One of the local government areas was urban, while the other one was rural. Children who were corporal punishment. Corporal punishment-related eye injury, according to this study, appears to be common in the rural area and affects boys predominantly. Other human intermediary agents that cause an eye injury include passersby (2.04%), RTA (2.04%), siblings (2.04%), and others (1.02%). The primary agents that caused an eye injury were sticks/wood, 29 (29.60%); stone, 21 (21.43%); pieces of metal, 19 (19.39%); fall, 10 (10.20%); fight/fist blow, 9 (9.918%); plastic, 2 (2.04%); fingernails, 2 (2.04%); farm tools/fruits, 2 (2.04%); and RTA, glass, and headbutt, each 1.02%. Farm implements/fruits as well as fingernails appear to be fairly common primary agents that cause an eye injury in the rural Enugu, Nigeria. In terms of prevalence, there was no significant difference between the urban and rural areas. The findings from this study showed a high prevalence of eye injury among primary school children. In terms of treatment, 58.16% of the children with an eye injury had no form of treatment for it. The children from this study with monocular blindness did not receive adequate medical treatment. Treatment of an eye injury, according to this study, was sought from chemists (19.39%), at hospital/health centers (16.33%), at home (3.06%), and from traditional healers (3.06%). The persons who treated an eye injury, as observed from this study, were doctors (14.29%), nurses (4.08%), chemists (17.35%), and traditional healers and fathers (3.06% each). The frequency of noninjury-related diagnosis made in this study was refractive error, 4.85%; allergic conjunctivitis, 1.94%; oculocutaneous albinism, 0.24%; prepapillary vascular loops, 0.40%; and then ptosis, exotropia, stye, corneal opacity, and retinitis

  1. BIOLOGICAL SAFETY EVALUATION OF CHITOSAN ANTIBACTERIAL SPRAY%一种壳聚糖抗菌喷膜剂的生物安全性评价

    Institute of Scientific and Technical Information of China (English)

    杨美玲; 张紫虹; 刘宇; 古梅英; 王凤岩

    2012-01-01

    目的 了解一种壳聚糖抗菌喷膜剂的毒性及生物相容性.方法 通过动物实验和细胞毒性试验方法,对该制剂的生物安全性进行了评价.结果 该壳聚糖制剂为一种抗菌喷膜制剂,其有效成分为含质量分数1%壳聚糖.该抗菌喷膜对体外培养的L -929细胞形态无明显影响,对细胞生长和增殖无明显抑制作用,细胞毒性均为0级.在新西兰家兔的阴道使用该抗菌喷膜黏膜后发现黏膜有轻微充血,组织病理学观察到血管充血程度较强,刺激指数为1.44,属极轻刺激性.该抗菌喷膜对豚鼠完整皮肤无致红斑和水肿反应,属不致敏级.结论 该抗菌喷膜无体外细胞毒作用,对试验动物完整皮肤无致敏性,但对动物阴道黏膜有极轻度刺激性,具有较好的生物安全性.%Objective To understand the toxicity and biocompatibiliry of chitosan antibacterial spray in order to assess its safety. Methods Animal test and cytotoxicity test in vitro were performed to evaluate the biological safety of this biological disinfectant. Results Chitosan antibacterial spray containing 1 % chitosan had no significant effect on the L - 929 cell morphology and had no significant inhibition on cell growth and proliferation; The cytotoxicity gradation was 0 degree in various concentration of leaching liquors of test materials. Mild irritation was found in vaginal mucosa of rabbit, vas congestion was found in pathological test and irritation index was 1.44 which belonged to mild irritation grade. No skin erythema and edema was found in albinism animal test, which belonged to no - hypersensitivity. Conclusion This chitosan antibacterial spray used for mucosa has mild stimulation, good biocompatibility and biological safety.

  2. Effects of aluminum sulfate on delta-aminolevulinate dehydratase from kidney, brain, and liver of adult mice

    Directory of Open Access Journals (Sweden)

    Schetinger M.R.C.

    1999-01-01

    Full Text Available The purpose of the present study was to investigate the in vitro and in vivo effects of aluminum sulfate on delta-aminolevulinic acid dehydratase (ALA-D activity from the brain, liver and kidney of adult mice (Swiss albine. In vitro experiments showed that the aluminum sulfate concentration needed to inhibit the enzyme activity was 1.0-5.0 mM (N = 3 in brain, 4.0-5.0 mM (N = 3 in liver and 0.0-5.0 mM (N = 3 in kidney. The in vivo experiments were performed on three groups for one month: 1 control animals (N = 8; 2 animals treated with 1 g% (34 mM sodium citrate (N = 8 and 3 animals treated with 1 g% (34 mM sodium citrate plus 3.3 g% (49.5 mM aluminum sulfate (N = 8. Exposure to aluminum sulfate in drinking water inhibited ALA-D activity in kidney (23.3 ± 3.7%, mean ± SEM, P<0.05 compared to control, but enhanced it in liver (31.2 ± 15.0%, mean ± SEM, P<0.05. The concentrations of aluminum in the brain, liver and kidney of adult mice were determined by graphite furnace atomic absorption spectrometry. The aluminum concentrations increased significantly in the liver (527 ± 3.9%, mean ± SEM, P<0.05 and kidney (283 ± 1.7%, mean ± SEM, P<0.05 but did not change in the brain of aluminum-exposed mice. One of the most important and striking observations was the increase in hepatic aluminum concentration in the mice treated only with 1 g% sodium citrate (34 mM (217 ± 1.5%, mean ± SEM, P<0.05 compared to control. These results show that aluminum interferes with delta-aminolevulinate dehydratase activity in vitro and in vivo. The accumulation of this element was in the order: liver > kidney > brain. Furthermore, aluminum had only inhibitory properties in vitro, while in vivo it inhibited or stimulated the enzyme depending on the organ studied.

  3. Lens density tracking in mice by Scheimpflug imaging.

    Science.gov (United States)

    Puk, Oliver; de Angelis, Martin Hrabĕ; Graw, Jochen

    2013-08-01

    Scheimpflug imaging has recently been established for in vivo imaging of the anterior eye segment and quantitative determination of lens transparency in the mouse. This enables more effective investigations of cataract formation with the mouse model, including longitudinal studies. In order to enable recognition of disease-associated irregularities, we performed Scheimpflug measurements with the common laboratory inbred lines C57BL/6J, C3HeB/FeJ, FVB/NCrl, BALB/cByJ, and 129/SvJ in a period between 2 and 12 months of age. C57BL/6J mice showed lowest mean lens densities during the test period. Progressive cortical lens opacification was generally observed, with the earliest onset in C57BBL/6J, C3HeB/FeJ, and 129/SvJ, between 2 and 6 months after birth. Moreover, lenses of these inbred lines developed nuclear opacities. Calculated mean lens density significantly increased between 6 and 12 months of age in all inbred strains except 129/SvJ. Lens densities (and the corresponding standard deviations) of FVB/NCrl and 129/SvJ increased most likely because of differences in the genetic background. Albinism as confounder might be excluded since the albino Balb/cByJ mice are more similar to the C57BL/6J or C3Heb/FeJ mice. We further identified strain-specific anterior lens opacities (C57BL/6J) and cloudy corneal lesions (C57BL/6J, FVB/NCrl, and BALB/cByJ) at later stages. In conclusion, our results indicate that there are lifelong opacification processes in the mouse lens. The highest lens transparency and a dark coat color, which prevents interference from light reflections, make mice with the C57BL/6J background most suitable for cataract research by Scheimpflug imaging. We show that lens densitometry by Scheimpflug imaging in mouse eyes can resolve differences of less than 1 %, making it possible to detect differences in cataract development in different mouse strains, even if they are small. PMID:23929037

  4. A comparison of two methods of logMAR visual acuity data scoring for statistical analysis

    Directory of Open Access Journals (Sweden)

    O. A. Oduntan

    2009-12-01

    Full Text Available The purpose of this study was to compare two methods of logMAR visual acuity (VA scoring. The two methods are referred to as letter scoring (method 1 and line scoring (method 2. The two methods were applied to VA data obtained from one hundred and forty (N=140 children with oculocutaneous albinism. Descriptive, correlation andregression statistics were then used to analyze the data.  Also, where applicable, the Bland and Altman analysis was used to compare sets of data from the two methods.  The right and left eyes data were included in the study, but because the findings were similar in both eyes, only the results for the right eyes are presented in this paper.  For method 1, the mean unaided VA (mean UAOD1 = 0.39 ±0.15 logMAR. The mean aided (mean ADOD1 VA = 0.50 ± 0.16 logMAR.  For method 2, the mean unaided (mean UAOD2 VA = 0.71 ± 0.15 logMAR, while the mean aided VA (mean ADOD2 = 0.60 ± 0.16 logMAR. The range and mean values of the improvement in VA for both methods were the same. The unaided VAs (UAOD1, UAOD2 and aided (ADOD1, ADOD2 for methods 1 and 2 correlated negatively (Unaided, r = –1, p<0.05, (Aided, r = –1, p<0.05.  The improvement in VA (differences between the unaided and aided VA values (DOD1 and DOD2 were positively correlated (r = +1, p <0.05. The Bland and Altman analyses showed that the VA improvement (unaided – aided VA values (DOD1 and DOD2 were similar for the two methods. Findings indicated that only the improvement in VA could be compared when different scoring methods are used. Therefore the scoring method used in any VA research project should be stated in the publication so that appropriate comparisons could be made by other researchers.

  5. Four kinds of ENU-induced white spot mice and chromosome locations of the mutant genes

    Institute of Scientific and Technical Information of China (English)

    WU Baojin; MAO Huihua; SHAO Yixiang; XUE Zhengfeng; LI Houda

    2003-01-01

    Phenotype-driven is the name for an approach used to study gene functions through mutagenesis, location and cloning of the mutant gene. In this study, 150 male C57BL/6J(B6) mice were treated with ENU and reproduced a total offspring of 3860. Of these descendants, 210 exhibited mutation phenotypes by screening, and more than 10 of them are hereditable. Four kinds of mutant mice, named Wbct, W-1Bao, W-2Bao, and W-3Bao, showed dominant hereditary white spot mutation with partial albinism on their belly, distal limbs and tail terminal. To map these mutant genes, 39 microsatellites, equally distributed on the mouse genome and with difference between B6 and DBA/2J (D2), were selected to scan the genome after discrimination of the white spots in the F2 mice [(B6×D2)×D2]. It is found that, the log odds score (LODS) between W-1Bao and D5Mit168 is 0.56, and the LODS of W-1Bao and D5Mit352 is 4.47. With the gradual application of microsatellites D5Mit290, D5Mit312, D5Mit308 and D5Mit356 that are close to the mutant gene, and the number of F2 mice going up to 537, the mutant W-1Bao is located between D5Mit356 and D5Mit308 on chromosome 5, about 42.19 cM from the centromere. In the same way, W-2Bao and W-3Bao are mapped nearby W-1Bao, and Wbct is located on chromosome 1, about 41.6 cM from the centromere. After searching for the mouse genome database (MGD) and performing a one-by-one study of all genes located on chromosome subregion, it is believed that the kit gene is an excellent candidate for the white spot mutations of W-1Bao, W-2Bao and W-3Bao.

  6. Immunophenotypic and Ultrastructural Analysis of Mast Cells in Hermansky-Pudlak Syndrome Type-1: A Possible Connection to Pulmonary Fibrosis.

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    Arnold S Kirshenbaum

    Full Text Available Hermansky-Pudlak Syndrome type-1 (HPS-1 is an autosomal recessive disorder caused by mutations in HPS1 which result in reduced expression of the HPS-1 protein, defective lysosome-related organelle (LRO transport and absence of platelet delta granules. Patients with HPS-1 exhibit oculocutaneous albinism, colitis, bleeding and pulmonary fibrosis postulated to result from a dysregulated immune response. The effect of the HPS1 mutation on human mast cells (HuMCs is unknown. Since HuMC granules classify as LROs along with platelet granules and melanosomes, we set out to determine if HPS-1 cutaneous and CD34+ culture-derived HuMCs have distinct granular and cellular characteristics. Cutaneous and cultured CD34+-derived HuMCs from HPS-1 patients were compared with normal cutaneous and control HuMCs, respectively, for any morphological and functional differences. One cytokine-independent HPS-1 culture was expanded, cloned, designated the HP proMastocyte (HPM cell line and characterized. HPS-1 and idiopathic pulmonary fibrosis (IPF alveolar interstitium showed numerous HuMCs; HPS-1 dermal mast cells exhibited abnormal granules when compared to healthy controls. HPS-1 HuMCs showed increased CD63, CD203c and reduced mediator release following FcɛRI aggregation when compared with normal HuMCs. HPM cells also had the duplication defect, expressed FcɛRI and intracytoplasmic proteases and exhibited less mediator release following FcɛRI aggregation. HPM cells constitutively released IL-6, which was elevated in patients' serum, in addition to IL-8, fibronectin-1 (FN-1 and galectin-3 (LGALS3. Transduction with HPS1 rescued the abnormal HPM morphology, cytokine and matrix secretion. Microarray analysis of HPS-1 HuMCs and non-transduced HPM cells confirmed upregulation of differentially expressed genes involved in fibrogenesis and degranulation. Cultured HPS-1 HuMCs appear activated as evidenced by surface activation marker expression, a decrease in mediator

  7. Contrasting signals of positive selection in genes involved in human skin-color variation from tests based on SNP scans and resequencing

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    de Gruijter Johanna

    2011-12-01

    Full Text Available Abstract Background Numerous genome-wide scans conducted by genotyping previously ascertained single-nucleotide polymorphisms (SNPs have provided candidate signatures for positive selection in various regions of the human genome, including in genes involved in pigmentation traits. However, it is unclear how well the signatures discovered by such haplotype-based test statistics can be reproduced in tests based on full resequencing data. Four genes (oculocutaneous albinism II (OCA2, tyrosinase-related protein 1 (TYRP1, dopachrome tautomerase (DCT, and KIT ligand (KITLG implicated in human skin-color variation, have shown evidence for positive selection in Europeans and East Asians in previous SNP-scan data. In the current study, we resequenced 4.7 to 6.7 kb of DNA from each of these genes in Africans, Europeans, East Asians, and South Asians. Results Applying all commonly used neutrality-test statistics for allele frequency distribution to the newly generated sequence data provided conflicting results regarding evidence for positive selection. Previous haplotype-based findings could not be clearly confirmed. Although some tests were marginally significant for some populations and genes, none of them were significant after multiple-testing correction. Combined P values for each gene-population pair did not improve these results. Application of Approximate Bayesian Computation Markov chain Monte Carlo based to these sequence data using a simple forward simulator revealed broad posterior distributions of the selective parameters for all four genes, providing no support for positive selection. However, when we applied this approach to published sequence data on SLC45A2, another human pigmentation candidate gene, we could readily confirm evidence for positive selection, as previously detected with sequence-based and some haplotype-based tests. Conclusions Overall, our data indicate that even genes that are strong biological candidates for positive

  8. Asymmetric severity of diabetic retinopathy in Waardenburg syndrome

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    Kashima T

    2011-12-01

    the authors’ knowledge, this is the first case report of a patient with Waardenburg syndrome and diabetic retinopathy.Keywords: asymmetry, diabetic retinopathy, Waardenburg syndrome, albinism, hypopigmentation

  9. Immunophenotypic and Ultrastructural Analysis of Mast Cells in Hermansky-Pudlak Syndrome Type-1: A Possible Connection to Pulmonary Fibrosis

    Science.gov (United States)

    Kirshenbaum, Arnold S.; Cruse, Glenn; Desai, Avanti; Bandara, Geethani; Leerkes, Maarten; Lee, Chyi-Chia R.; Fischer, Elizabeth R.; O’Brien, Kevin J.; Gochuico, Bernadette R.; Stone, Kelly; Gahl, William A.; Metcalfe, Dean D.

    2016-01-01

    Hermansky-Pudlak Syndrome type-1 (HPS-1) is an autosomal recessive disorder caused by mutations in HPS1 which result in reduced expression of the HPS-1 protein, defective lysosome-related organelle (LRO) transport and absence of platelet delta granules. Patients with HPS-1 exhibit oculocutaneous albinism, colitis, bleeding and pulmonary fibrosis postulated to result from a dysregulated immune response. The effect of the HPS1 mutation on human mast cells (HuMCs) is unknown. Since HuMC granules classify as LROs along with platelet granules and melanosomes, we set out to determine if HPS-1 cutaneous and CD34+ culture-derived HuMCs have distinct granular and cellular characteristics. Cutaneous and cultured CD34+-derived HuMCs from HPS-1 patients were compared with normal cutaneous and control HuMCs, respectively, for any morphological and functional differences. One cytokine-independent HPS-1 culture was expanded, cloned, designated the HP proMastocyte (HPM) cell line and characterized. HPS-1 and idiopathic pulmonary fibrosis (IPF) alveolar interstitium showed numerous HuMCs; HPS-1 dermal mast cells exhibited abnormal granules when compared to healthy controls. HPS-1 HuMCs showed increased CD63, CD203c and reduced mediator release following FcɛRI aggregation when compared with normal HuMCs. HPM cells also had the duplication defect, expressed FcɛRI and intracytoplasmic proteases and exhibited less mediator release following FcɛRI aggregation. HPM cells constitutively released IL-6, which was elevated in patients’ serum, in addition to IL-8, fibronectin-1 (FN-1) and galectin-3 (LGALS3). Transduction with HPS1 rescued the abnormal HPM morphology, cytokine and matrix secretion. Microarray analysis of HPS-1 HuMCs and non-transduced HPM cells confirmed upregulation of differentially expressed genes involved in fibrogenesis and degranulation. Cultured HPS-1 HuMCs appear activated as evidenced by surface activation marker expression, a decrease in mediator content and

  10. A constitutively active Gαi3 protein corrects the abnormal retinal pigment epithelium phenotype of Oa1-/- mice.

    Directory of Open Access Journals (Sweden)

    Alejandra Young

    Full Text Available PURPOSE: Ocular Albinism type 1 (OA1 is a disease caused by mutations in the OA1 gene and characterized by the presence of macromelanosomes in the retinal pigment epithelium (RPE as well as abnormal crossing of the optic axons at the optic chiasm. We showed in our previous studies in mice that Oa1 activates specifically Gαi3 in its signaling pathway and thus, hypothesized that a constitutively active Gαi3 in the RPE of Oa1-/- mice might keep on the Oa1 signaling cascade and prevent the formation of macromelanosomes. To test this hypothesis, we have generated transgenic mice that carry the constitutively active Gαi3 (Q204L protein in the RPE of Oa1-/- mice and are now reporting the effects that the transgene produced on the Oa1-/- RPE phenotype. METHODS: Transgenic mice carrying RPE-specific expression of the constitutively active Gαi3 (Q204L were generated by injecting fertilized eggs of Oa1-/- females with a lentivirus containing the Gαi3 (Q204L cDNA. PCR, Southern blots, Western blots and confocal microscopy were used to confirm the presence of the transgene in the RPE of positive transgenic mice. Morphometrical analyses were performed using electron microscopy to compare the size and number of melanosomes per RPE area in putative Oa1-/-, Gαi3 (Q204L transgenic mice with those of wild-type NCrl and Oa1-/- mice. RESULTS: We found a correlation between the presence of the constitutively active Gαi3 (Q204L transgene and the rescue of the normal phenotype of RPE melanosomes in Oa1-/-, Gαi3 (Q204L mice. These mice have higher density of melanosomes per RPE area and a larger number of small melanosomes than Oa1-/- mice, and their RPE phenotype is similar to that of wild-type mice. CONCLUSIONS: Our results show that a constitutively active Gαi3 protein can by-pass the lack of Oa1 protein in Oa1-/- mice and consequently rescue the RPE melanosomal phenotype.

  11. Fundus examination results 68 cases of infant nystagmus syndrome%婴儿眼球震颤综合征68例眼底检查结果分析

    Institute of Scientific and Technical Information of China (English)

    程海霞; 周青

    2016-01-01

    Objective To evaluate the necessity of infant nystagmus syndrome with fundus examination.Methods A retrospective analysis of 68 cases of fundus examination of infant nystagrnus syndrome,summarize the clinical experience.Results Of 68 cases infant nystagmus syndrome,strabismus had 7 cases,in which exotropia 4 cases,esotropia 3 cases.Retcam3 examination revealed 19 cases of ocular abnormalities:4 cases of congenital cataracts;ocular albinism 3 cases;3 cases of hyperplasia primary vitreous;familial exudative vitreoretinopathy two cases;congenital choroidal coloboma 2 cases;congenital microphthalmia 2 cases;optic atrophy 2 cases and 1 case morning glory syndrome.Conclusions Infantile nystagrnus syndrome is often accompanied by retinal abnormalities,Retcam3 can be used for infant eye screening.%目的 探讨婴儿眼球震颤综合征患儿眼底检查的必要性.方法 回顾性分析在南京市儿童医院眼科门诊2013年1月至2014年12月期间68例婴儿眼球震颤综合征Retcam3检查结果,总结临床经验.结果 68例先天性眼球震颤婴幼儿中斜视患儿7例,其中外斜视4例,内斜3例.经散瞳后Ret-cam3检查发现眼部异常19例:先天性白内障4例5只眼;眼型白化病3例;原始永存玻璃体增生症3例;家族型渗出性脉络膜视网膜病变2例;脉络膜缺损2例;小眼球2例;视神经萎缩2例;牵牛花综合征1例.结论 婴儿眼球震颤综合征患儿常伴有眼底的异常,Retcam3可用于婴幼儿眼病筛查.

  12. 系统性红斑狼疮继发深部真菌感染的临床研究%Clinical study of invasive fungal infection secondary to systemic lupus erythematosus

    Institute of Scientific and Technical Information of China (English)

    邓红香; 游运辉; 刘萍; 赵洪军; 周亚欧; 谢艳莉; 左晓霞

    2013-01-01

    Objective: To study the clinical characteristics of invasive fungal infection secondary to systemic lupus erythematosus (SLE). Methods: We observed the clinical features and experimental examination in 91 patients treated in Xiangya Hospital in recent years, of which 48 patients with invasive fungal infection and 41 patients without invasive fungal infection. Results: The invasive fungal infection secondary to SLE mainly occurred in the lungs, nervous system, and urinary system. The fungi were mainly Candida albins and Aspergillus. The rate of invasive fungal infection in SLE patients and the level of CRP and TNF-a in these patients were significantly increased. The occurrence of invasive fungal infection was positively correlated with the prolonged course of disease, long-term use of immunosuppressants and antibiotics, and occurrence of complications, such as hypoproteinemia, leukocytopenia, and so on. The levels of C-reactive protein (CRP) and tumor necrosis factor-a(TNF-α) were increased in SLE patients with invasive fungal infection. Conclusion: The clinical features of SLE patients with invasive fungal infections are long course of disease, long-time use of immunosuppressants or antibiotics, and occurrence of complications, such as hypoproteinemia or leukopenia. The level of CRP and TNF-α can be used as an important reference index for diagnosing invasive fungal infections.%目的:探讨系统性红斑狼疮(systemic lupus erythematosus,SLE)继发深部真菌感染的临床特点.方法:对中南大学湘雅医院近年收治的48例合并深部真菌感染的SLE患者及41例未合并感染的SLE患者进行临床观察研究.结果:SLE合并深部真菌感染的部位以肺部、神经系统、泌尿系统为主,致病真菌以白色念珠菌、曲霉菌为主.随着病程、免疫抑制药及抗生素使用时间的延长,低蛋白血症、白细胞减少等合并症的出现,SLE患者深部真菌感染的发生率明显增加,SLE继发深部真菌感染

  13. Effects of 4-BDE on Microstructure and Some Physiological Indexes in Popu-lus tomentosa Seedlings%4-BDE对毛白杨组培苗的显微结构和一些生理指标的影响

    Institute of Scientific and Technical Information of China (English)

    才满; 李燕玲; 杜克久

    2015-01-01

    本文研究了4-BDE处理对毛白杨组培苗的形态结构以及生理生化特性的影响。结果表明,在低浓度4-BDE处理下,组培苗叶片颜色变浅,随4-BDE处理浓度增加,新叶出现失绿白化现象。与对照苗相比,4-BDE处理的显微结构发生了明显改变,根的表皮细胞损伤现象严重,细胞形态变小;叶肉组织遭到破坏,海绵组织破坏程度高于栅栏组织;但茎的结构与正常苗无显著差异。30 mg·L-14-BDE处理23 d的白化叶片比叶重显著低于对照,其他各处理均无显著差异。叶片中叶绿素含量随4-BDE浓度的升高而下降,与4-BDE存在显著的浓度抑制关系。30 mg·L-14-BDE处理23 d的毛白杨丙二醛含量则显著低于处理47和58 d的。随着4-BDE处理时间的增加,过氧化物酶活性显著下降,而脯氨酸含量呈先降低再升高的趋势。以上结果初步显示,毛白杨组培苗对低于30 mg·L-14-BDE的污染具有一定的修复能力。%This research was performed to investigate the effects of 4-BDE on morphological structure and physiological-biochemical characteristics on tissue culture plantlet of Populus tomentosa. The results indicated that leaf color became lighter with low concentration of 4-BDE, the new leaves appeared albinism with 4-BDE concentration increased. Comparing with control, seedlings showed signiifcantly abnormal microstructure un-der 4-BDE treatment. The root epidermis had serious damaged and the size of cells became smaller. Mesophyll tissue was destroyed, the damaged extent of spongy mesophyll tissue was higher than that of palisade. But the microstructure of stem showed no differences. Under 30 mg·L-1 4-BDE treatment for 23 days, the leaf mass per area of albino leaf was signiifcantly lower than the control, other treatment had no signiifcant difference. With 4-BDE concentration increased, chlorophyll content of leaves decreased, showing deifnite dose-response rela-tionships. MDA content with 30 mg·L-1 4

  14. A closer look at evolution: Variants (SNPs) of genes involved in skin pigmentation, including EXOC2, TYR, TYRP1, and DCT, are associated with 25(OH)D serum concentration.

    Science.gov (United States)

    Saternus, Roman; Pilz, Stefan; Gräber, Stefan; Kleber, Marcus; März, Winfried; Vogt, Thomas; Reichrath, Jörg

    2015-01-01

    Vitamin D deficiency is common in the Caucasian population and is associated with increased incidence and unfavorable outcome of many diseases, including various types of cancer, infectious, cardiovascular, and autoimmune diseases. Individual factors that predispose for a person's vitamin D status, such as skin type, have been identified, but limited data exist on genetic determinants of serum 25-hydroxyvitamin D (25[OH]D) concentration. We have tested the hypothesis that variants of genes (single nucleotide polymorphisms [SNPs]) involved in skin pigmentation are predictive of serum 25(OH)D levels. Serum 25(OH)D and SNPs (n = 960) related to genes with relevance for skin pigmentation (tyrosinase [TYR], TYR-related protein 1 [TYRP1], dopachrome tautomerase [DCT], oculocutaneous albinism II [OCA2], two pore segment channel 2 [TPCN2], solute carrier family 24 A4 [SLC24A4], solute carrier family 45 A2 [SLC45A2], agouti signalling peptide [ASIP], cyclic AMP-dependent transcription factor [ATF1], microphthalmia-associated transcription factor [MITF], proopiomelanocortin [POMC], cAMP-dependent protein kinase catalytic subunit beta [PRKACB], cAMP-dependent protein kinase catalytic subunit gamma [PRKACG], cAMP-dependent protein kinase type I-alpha regulatory subunit [PRKAR1A], cAMP-dependent protein kinase type II-alpha regulatory subunit [PRKAR2A], cAMP-dependent protein kinase type II-beta regulatory subunit [PRKAR2B], tubulin beta-3 chain/melanocortin receptor 1 [TUBB3/MC1R], Cadherin-1 [CDH1], catenin beta 1 [CTNNB1], Endothelin 1 [EDN1], endothelin 3 [EDN3], endothelin receptor type B [EDNRB], fibroblast growth factor 2 [FGF2], KIT, KIT ligand [KITLG], nerve growth factor [NGF], interferon regulatory factor 4 [IRF4], exocyst complex component 2 [EXOC2], and tumor protein 53 [TP53]) were analyzed in a cohort of participants of the Ludwigshafen Risk and Cardiovascular Health Study (n = 2970). A total of 46 SNPs were associated (P <.05) with lower or higher serum 25(OH

  15. Eye Injuries Among Primary School Children in Enugu, Nigeria: Rural vs Urban.

    Science.gov (United States)

    Okpala, Nonso Ejikeme; Umeh, Rich Enujioke; Onwasigwe, Ernest Nnemeka

    2015-01-01

    of treatment, 58.16% of the children with an eye injury had no form of treatment for it. The children from this study with monocular blindness did not receive adequate medical treatment. Treatment of an eye injury, according to this study, was sought from chemists (19.39%), at hospital/health centers (16.33%), at home (3.06%), and from traditional healers (3.06%). The persons who treated an eye injury, as observed from this study, were doctors (14.29%), nurses (4.08%), chemists (17.35%), and traditional healers and fathers (3.06% each). The frequency of noninjury-related diagnosis made in this study was refractive error, 4.85%; allergic conjunctivitis, 1.94%; oculocutaneous albinism, 0.24%; prepapillary vascular loops, 0.40%; and then ptosis, exotropia, stye, corneal opacity, and retinitis pigmentosa, 0.08% each. The annual incidence of an eye injury according to this study was 3.48%. The majority of the causes of an eye injury, as per this study, were preventable. Appropriate promotion of preventive eye care among children may go a long way in reducing the burden of blindness from eye injuries.

  16. Congenital eye and adnexial disorders in tertiary health institutions in Abakaliki,Nigeria%尼日利亚阿巴卡利基地区三级医院的先天性眼及附属器疾病

    Institute of Scientific and Technical Information of China (English)

    Chijioke G Onyekonwu; Chinwe L Onyekonwu

    2009-01-01

    AIM: To ascertain the types and frequencies of congenital eye and adnexial disorders seen at two tertiary health facilities in Abakaliki,Nigeria. METHODS: A retrospective review of the case records of new patients with congenital eye disorders who were a year old or less and presented to the eye clinics of both tertiary institutions between May 2001 and April 2008 was done. Collected data were analysed for age and sex of the patients,types,frequencies,ocular and systemic associations of the disorders using simple statistical METHODS: .RESULTS: There were a total of 199 children with ocular pathologies recorded within the study period. Of these,50 (25.1%) children had congenital disorders. There were 27 (54%) males and 23 (46%) females. Thirty two (64%) children were less than 6 months of age. The commonest disorders were nasolacrimal duct obstruction 10(20%),congenital ptosis 7(14%),dermoid cyst 5(10%),buphthalmos 4(8%) and congenital cataract 3(6%). All these may cause avoidable childhood blindness. The least common pathologies included albinism 1(2%),anophthalmos 1(2%),retinoblastoma 2(4%) and optic atrophy 2(4%). These may cause irreversible blindness and poor vision.CONCLUSION: Although congenital eye disorders are not common,they are potential causes of childhood blindness and low vision. Early childhood screening is advocated to enable early detection and prompt intervention.%目的:确定在尼日利亚阿巴卡利基地区两个三级医院就诊的先天性眼及附属器疾病的类型和发病率.方法:回顾分析2001-05/2008-04就诊于两个三级医院眼科的1岁及1岁以下的先天性眼病患者的病历记录,用简单的统计方法分析年龄、性别、病种、发病率、眼部及全身的相关疾病等信息.结果:研究共记录有199例眼病患儿.其中先天性眼病的50 例(25.1%).包括男27例(54%),女23 例(46%).患儿<6个月龄的占2/3(64%).最常见的疾病为鼻泪管阻塞10例(20%),先天性上睑下垂10例(14%)

  17. Book Reviews

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    N.J. Gubser

    1968-01-01

    Full Text Available - Ward H. Goodenough, Frederick Barth, Models of social organization. Royal Anthropological Institute Occasional Paper No. 23. Royal Anthropological Institute of Great Britain and Ireland, London 1966. Pp. vi, 33. - E. Postel-Coster, Carl A. Schmitz, Grundformen der Verwandtschaft. Basler Beiträge zur Geographie und Ethnologie, Ethnologische Reihe Heft I. Pharos-Verlag Hansrudolf Schwabe AG, Basel 1964. 134 pp. - B. Siertsema, John J. Gumperz, “The ethnography of communication”; Special publication of American Anthropologist, Part 2, Vol. 66, no. 6, December 1964. American Anthropological Association, Menasha, Wisconsin, U.S.A., 1964, 186 pp., Dell Hymes (eds. - J. Voorhoeve, William J. Samarin, Field Linguistics. A guide to linguistic fieldwork. Holt, Rinehart & Winston Inc., New York, etc., 1967. X + 246 pp. - P.J.R. Modderman, André Leroi-Gourhan, La geste et la parole. Albin Michel, Paris 1964. 2 dln., 300 en 268 pp. Vele ills. - David F. Pocock, Andre Beteille, Caste, class and power. Changing patterns of stratification in a Tanjore village. University of California Press, Berkeley 1965. 225 pp. - A. Trouwborst, P.C. Lloyd, The new elites of tropical Africa. Studies presented and discussed at the sixth international African seminar at the University of Ibadan, Nigeria, July 1964 . Foreword by Daryll Forde. Introduction by P.C. Lloyd. Published for the International African Institute by the Oxford University Press. London 1966. X + 390 pp. - F.L. van Holthoon, Darryll Forde, West African Kingdoms in the 19th. century. O.U.P. for the International African Institute, London 1967. 281 pp., P.M. Kaberry (eds. - J.J. Romkes, David W. Brokensha, Social change at Larteh, Ghana. Clarendon Press. Oxford University Press. London 1966. 294 pp., 5 plates, 3 maps. - A.J.C. Lach de Bère, Merran Fraenkel, Tribe and class in Monrovia. Oxford University Press for the International African Institute, London, Ibadan, Accra, 1964; 244 blz. - F.L. van

  18. A population-based study of visual impairment in the Lower Tugela health district in KZN, SA

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    K.S. Naidoo

    2013-01-01

    Full Text Available A cross-sectional, population-based, epidemiological study of blindness and visual impairment was conducted to evaluate the prevalence of vision loss and various sight-threatening conditions in the Lower Tugela health district of the KwaZulu-Natal province, South Africa. This study was conducted on a randomly selected sample of 3444 individuals from the district. This number represented 84% of those who were visited and 80.1% of the total sample selected. The participants ranged in age from 5 to 93 years (mean of 29.2 years and a median of 20.0 years. The proportion of men to women differed between participants aged <30 years and those aged >30 years. In both age groups, women represented the majority of participants (66.5%, but the number of women to men in the older age group was approximately twice that found in the group aged less than 30 years. The difference in age between the men and women in the study was not statistically significant (p >0.5. The study revealed that 6.4% of the population studied were visually impaired. The distribution of uncorrected visual acuity was better for women than for men for both OD and OS (p = 0.000 for OD and OS. The main causes of visual impairment were refractive error (44.5%, cataract (31.2%, glaucoma (6.0%, hypertensive retinopathy (4.1% and diabetic retinopathy (4.1%. Unilateral blindness (OD was present in 0.78% (95% Confidence interval (CI: 0.42%-1.14% of participants and unilateral blindness (OS was present in 1.1% (95% CI: 0.70%-1.50%. Thirty-one participants (0.9% were bilaterally blind with the main causes being cataracts (54.8% and refractive error (12.9%. Glaucoma and hypertensive retinopathy were responsible for 6.4% of ..bilateral blindness. Diabetic retinopathy, other retinal conditions (coloboma and corneal scarring were each responsible for 3.2% of bilateral blindness. Albinism, coloboma and age-related macular degeneration accounted for 9.7%

  19. Treatment of cutaneous tumors with topical 5% imiquimod cream

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    Sabrina Sisto Alessi

    2009-01-01

    Full Text Available INTRODUCTION: There are various approaches to the treatment of cutaneous tumors; one of them is treatment with imiquimod, a synthetic toll-like receptor agonist with a low molecular weight that offers a topical, noninvasive, and non-surgical therapeutic option. The main objective of our study was to provide data on 89 patients who used a 5% imiquimod cream for the treatment of cutaneous tumors at the Cutaneous Oncology Group of the Dermatology Department of Hospital das Clinicas from 2003 to 2008. MATERIALS AND METHODS: Here, we present our experience in the treatment of 123 cutaneous tumors of various types, including basal cell carcinoma (BCC, squamous cell carcinoma (SCC, Bowen's disease, erythroplasia of Queyrat, Paget's disease, and trichoepithelioma, with 5% imiquimod cream from 2003 to 2008 in the Cutaneous Oncology Group of the Dermatology Department of Hospital das Clinicas. Patients were divided into two separate groups according to their diagnosis and comorbidities; these comorbidities included epidermodysplasia verruciformis, xeroderma pigmentosum, albinism, basal cell nevus syndrome, Brooke-Spiegler syndrome, HIV, chronic lymphocytic leukemia, B-cell lymphoma, and kidney transplantation. Treatment duration, response to imiquimod, follow-up, recurrence, and local and systemic reactions associated with use of the drug were analyzed. Epidemiological data were obtained and cure rates were calculated. RESULTS: The ratio of women to men was 1.28:1, and the mean age was 63.1 years. Tumors were located mainly on the face, back, trunk, and legs. For patients with comorbidities, the overall cure rate was 38%. These specific patients demonstrated cure rates of 83.5% for superficial BCC and 50% for Bowen's disease. Aggressive BCC and superficial and nodular BCC did not present a good response to treatment. Trichoepitheliomas and nodular BCC showed a partial response, and erythroplasia of Queyrat showed a complete response. For patients without

  20. 自制防晒乳膏体外及豚鼠在体防晒性能的评价%Photoprotective effect of a self-made sunscreen cream: an evaluation in vitro and in vivo by using guinea pigs

    Institute of Scientific and Technical Information of China (English)

    马志超; 林银花; 张晶; 周欣; 宋洪涛

    2012-01-01

    [目的]观察自制防晒乳膏的防晒指数SPF值和PFA值.[方法]体外法测定样品防晒指数:将样品以2μl/cm2的剂量涂抹于仿生皮肤3M膜上,然后用防晒指数测定仪测定样品的防晒指数.豚鼠在体防晒指数的测定:白化豚鼠48只,随机分为8组,其中4组不涂防晒样品,4组分别涂布自制防晒乳膏和对照样品(某市售防晒制剂),使用SUV-1000型日光紫外线模拟器模拟紫外线照射,测定样品防晒指数.[结果]体外法检测自制防晒乳膏和某市售制剂的SPF值分别为32.26±2.42和30.87±2.57,PFA值分别是24.28±2.44和17.53±2,28,两种制剂SPF相比,t=0.94,P>0.05(n=5);但自制防晒乳膏对UVA的防护效果优于某市售制剂,t=4.52,P< 0.01(n=5).豚鼠在体法检测自制防晒乳膏和某市售制剂的SPF值分别为30.39±6.65和28.79±7.36,PFA> 8.91和>8.93,两种制剂SPF值比较,f=0.38,P> 0.05(n=12).[结论]自制防晒乳膏和某市售制剂相比,对紫外线的防护效果相当.%[Objective] To determine the sun protection factor (SPF) and protection factor of ultraviolet A (PFA) of a self-made sunscreen cream.[Methods] The sample of a self-made sunscreen cream and a commercial sunscreen cream were painted to an artificial skin (3M film) at a dose of 2 μl/cm2,and a tester was used to evaluate their photoprotective effect.A total of 48 albinism guinea pigs were classified into 8 groups to remain unprotected or be protected by the self-made or commercial sunscreen cream.A solar ultraviolet light simulator (SUV-1000) was used to simulate the ultraviolet rays in sunlight to irradiate the guinea pigs,and the photoprotecfive effect of these sunscreen creams was determined.[Results] The in vitro evaluation revealed that the SPF value of the self-made sun-screen cream and commercial cream was 32.26 ± 2.42 and 30.87 ± 2.57respectively (n =5,t =0.94,P > 0.05),and the PFA value was 24.28 ± 2.44 and 17.53 ± 2.28 respectively (n =5,t =4.52,P< 0

  1. Lixiviação de clomazone + ametryn, diuron + hexazinone e isoxaflutole em dois tipos de solo Ametryn + clomazone, diuron + hexazinone, and isoxaflutole leaching in two types of soil

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    P.A. Monquero

    2008-01-01

    + clomazone (1500 + 1000 g ha-1, isoxaflutol (187.5 g ha-1 and diuron + hexazinone (1170 + 330 g ha-1 on top of PVC columns filled with soil. After spraying, simulated rainfall of 10, 20, 40 and 80 mm was applied to the top of the columns. Three days later, Cucumis sativus and Sorghum bicolor were used in bioassays to detect herbicide leaching. The herbicide mixture ametryn + clomazone applied on clayey soil was detected at depths of 20 and 35 cm in applications of 10 and 80 mm of water, respectively. In soil with medium texture, a greater herbicide effect was observed in all the rainfall simulations. With application of 40 and 80 mm water, the herbicide was detected up to 35 cm depth in clayey soil. The herbicide isoxaflutole in clayey soil caused albinism in the aerial part of the plants up to 15 and 25 cm of depth with rainfall of 10 and 80 mm, respectively. In soil with medium texture, the highest rainfall simulations made possible to detect this herbicide up to 30 cm. With rainfall simulation of 80 mm, the herbicide mixture diuron + hexazinone was found at the depth of 30 cm in both soils, causing toxic effects of 25 and 60% on the bio-indicator plants in clayey and medium soil, respectively. It was concluded that all the herbicides assessed show a tendency to be leached under rainfall or artificial irrigation influence, with more pronounced effects in medium soils with lower organic matter content.

  2. Book Reviews

    Directory of Open Access Journals (Sweden)

    Redactie KITLV

    1994-01-01

    Full Text Available -Peter Hulme, Simon Gikandi, Writing in limbo: Modernism and Caribbean literature. Ithaca: Cornell University Press, 1992. x + 260 pp. -Charles V. Carnegie, Alistair Hennessy, Intellectuals in the twentieth-century Caribbean (Volume 1 - Spectre of the new class: The Commonwealth Caribbean. London: Macmillan, 1992. xvii 204 pp. -Nigel Rigby, Anne Walmsley, The Caribbean artists movement, 1966-1972: A literary and cultural history. London: New Beacon Books, 1992. xx + 356 pp. -Carl Pedersen, Tyrone Tillery, Claude McKay: A black poet's struggle for identity. Amherst: University of Massachusetts Press, 1992. xii + 235 pp. -Simone Dreyfus, Irving Rouse, The Tainos: Rise and decline of the people who greeted Columbus. New Haven: Yale University Press, 1992. xii + 211 pp. -Louis Allaire, Antonio M. Stevens-Arroyo, Cave of the Jagua: The mythological world of the Taino. Alburquerque: University of New Mexico Press, 1988. xiii + 282 pp. -Irving Rouse, William F. Keegan, The people who discovered Columbus: The prehistory of the Bahamas. Gainesville: University of Florida Press, 1992. xx + 279 pp. -Neil L. Whitehead, Philip P. Boucher, Cannibal encounters: Europeans and Island Caribs, 1492-1763. Baltimore: John Hopkins University Press, 1992. xii + 217 pp. -Peter Kloos, Kaliña, des amérindiens à Paris: Photographies du prince Roland. Présentées par Gérard Collomb. Paris: Créaphis, 1992. 119 pp. -Maureen Warner-Lewis, Alan Gregor Cobley ,The African-Caribbean connection: Historical and cultural perspectives. Bridgetown, Barbados: Department of History, University of the West Indies, Cave Hill, 1990. viii + 171 pp., Alvin Thompson (eds -H. Hoetink, Jean-Luc Bonniol, La couleur comme maléfice: une illustration créole de la généalogie des 'Blancs' et des 'Noirs'. Paris: Albin Michel, 1992. 304 pp. -Michael Aceto, Richard Price ,Two evenings in Saramaka. Chicago and London: University of Chicago Press, 1991. xvi + 417 pp., Sally Price (eds -Jorge P

  3. Defeitos congênitos diagnosticados em ruminantes na Região Sul do Rio Grande do Sul Congenital defects in ruminants in southern Brazil.

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    Clairton Marcolongo-Pereira

    2010-10-01

    muscular system (arthrogryposis, three (6.25% the cardiovascular system (patent ductus arteriosus and unclassified malformation, one (2.08% the lymphatic system (hereditary lymphatic hypoplasia, one (2.08% the alimentary system (atresia ani, and one (2.08% the eye (congenital blindness. In five cases (10.41% different systems were affected (diprosopus. Different hereditary diseases (hereditary hypermetry, arthrogryposis, and lymphatic hypoplasia or diseases suspected of being hereditary (chondrodysplasia were diagnosed in cattle. Also occurred, with less frequency, congenital defects associated with environmental factors (hypomyelinogenesis due to cooper deficiency or probably environmental factors (cleft palate, cerebellar hypoplasia, and cerebellar cortical degeneration. In sheep all observed defects were sporadic and affected various systems (anomalous twins and aprosopia. In buffalo all congenital defects were hereditary (arthrogryposis, myotonia and mechano-bullous genodermatoses or suspected of being hereditary (albinism, megaesophagus and hydranencephaly/cerebellar hypoplasia. It is concluded that sporadic congenital defects are not important in the three species studied. Despite the low frequency congenital defects associated with environmental factors could be important in some regions or farms. Hereditary or probably hereditary diseases are important, not only by the mortality rates, but also because the risk of dissemination of the genes in the different breeds. In water buffalo the high prevalence of hereditary diseases was a consequence of the high consanguinity of the Brazilian buffalo population. Control measures need to be taken to avoid the spread of recessive genes in cattle and buffalo.