WorldWideScience

Sample records for anchored reference genetic

  1. Genetics Home Reference: adermatoglyphia

    Science.gov (United States)

    ... individuals have had difficulty entering countries that require fingerprinting for identification. In some families, adermatoglyphia occurs without ... Genetics Home Reference Celebrates Its 15th Anniversary National DNA Day 2018 Newborn Screening Saves Lives Act Turns ...

  2. Genetics Home Reference: coloboma

    Science.gov (United States)

    ... 447-70. Review. Citation on PubMed Gongal PA, French CR, Waskiewicz AJ. Aberrant forebrain signaling during early ... 3):191-7. Citation on PubMed More from Genetics Home Reference Bulletins March is Trisomy Awareness Month ...

  3. Anchored reference loci in loblolly pine (Pinus taeda L.) for integrating pine genomics.

    Science.gov (United States)

    Brown, G R; Kadel, E E; Bassoni, D L; Kiehne, K L; Temesgen, B; van Buijtenen, J P; Sewell, M M; Marshall, K A; Neale, D B

    2001-01-01

    Anchored reference loci provide a framework for comparative mapping. They are landmarks to denote conserved chromosomal segments, allowing the synthesis of genetic maps from multiple sources. We evaluated 90 expressed sequence tag polymorphisms (ESTPs) from loblolly pine (Pinus taeda L.) for this function. Primer sets were assayed for amplification and polymorphism in six pedigrees, representing two subgenera of Pinus and a distant member of the Pinaceae, Douglas-fir (Pseudotsuga menziesii [Mirb.] Franco). On average, 89% of primer sets amplified in four species of subgenus Pinus, 49% in one species of subgenus Strobus, and 22% in Douglas-fir. Polymorphisms were detected for 37-61% of the ESTPs within each pedigree. Comparative mapping in loblolly and slash pine (P. elliottii Englm.) revealed that ESTPs mapped to the same location. Disrupted synteny or significant disruptions in colinearity were not detected. Thirty-five ESTPs met criteria established for anchor loci. The majority of those that did not meet these criteria were excluded when map location was known in only a single species. Anchor loci provide a unifying tool for the community, facilitating the creation of a "generic" pine map and serving as a foundation for studies on genome organization and evolution. PMID:11606554

  4. Genetics Home Reference: myasthenia gravis

    Science.gov (United States)

    ... GP, Tzartos SJ, Poulas K. Recent advances in genetic predisposition of myasthenia gravis. Biomed Res Int. 2013;2013:404053. doi: 10.1155/2013/404053. Epub 2013 Nov 5. Review. Citation on PubMed or Free article on PubMed ... from Genetics Home Reference Bulletins Genetics Home Reference Celebrates Its ...

  5. Genetics Home Reference: trimethylaminuria

    Science.gov (United States)

    ... life, and career. Some people with trimethylaminuria experience depression and social isolation as a result of ... information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  6. Genetics Home Reference: SADDAN

    Science.gov (United States)

    ... view the expand/collapse boxes. Description SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a ... Genetic Testing (1 link) Genetic Testing Registry: Severe achondroplasia with developmental delay and acanthosis nigricans Other Diagnosis ...

  7. Genetics Home Reference: preeclampsia

    Science.gov (United States)

    ... the mother can cause bleeding in the brain ( hemorrhagic stroke ). The effects of high blood pressure on the ... Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are genetic conditions ...

  8. Genetics Home Reference: osteoarthritis

    Science.gov (United States)

    ... the risk of other health conditions such as cardiovascular disease. Osteoarthritis is most common in middle age or ... to run in my family? What is the prognosis of a genetic condition? Genetic and Rare Diseases Information Center Frequency Osteoarthritis is a very common ...

  9. Genetics Home Reference: abetalipoproteinemia

    Science.gov (United States)

    ... speech (dysarthria), tremors or other involuntary movements (motor tics), a loss of sensation in the extremities (peripheral ... direct-to-consumer genetic testing? What is precision medicine? What is newborn screening? New Pages Depression GABA- ...

  10. Genetics Home Reference: hypermethioninemia

    Science.gov (United States)

    ... in transferring methyl groups, consisting of a carbon atom and three hydrogen atoms, from one molecule to another (transmethylation), which is ... direct-to-consumer genetic testing? What is precision medicine? What is newborn screening? New Pages Obstructive sleep ...

  11. Genetics Home Reference: piebaldism

    Science.gov (United States)

    ... be a feature of other conditions, such as Waardenburg syndrome ; these conditions have other genetic causes and additional ... 140S. Review. Citation on PubMed Spritz RA. Piebaldism, Waardenburg syndrome, and related disorders of melanocyte development. Semin Cutan ...

  12. Genetics Home Reference: homocystinuria

    Science.gov (United States)

    ... common form of homocystinuria is characterized by nearsightedness ( myopia ), dislocation of the lens at the front of ... reductase deficiency Orphanet: Homocystinuria without methylmalonic aciduria Screening, Technology, and Research in Genetics Virginia Department of Health ( ...

  13. Genetics Home Reference: microphthalmia

    Science.gov (United States)

    ... navigation Home Page Search Home Health Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Share: Email ... COLOBOMA 9 MICROPHTHALMIA, ISOLATED, WITH CORECTOPIA OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY Sources for ...

  14. Genetics Home Reference: leprosy

    Science.gov (United States)

    ... 2 links) Encyclopedia: Leprosy Health Topic: Mycobacterial Infections Genetic and Rare Diseases Information Center (1 link) Hansen's disease Additional NIH Resources (1 link) National Institute of Allergy and Infectious Diseases (NIAID): Leprosy (Hansen's Disease) Educational Resources (8 ...

  15. Genetics Home Reference: hypercholesterolemia

    Science.gov (United States)

    ... Encyclopedia: Familial hypercholesterolemia Encyclopedia: High blood cholesterol and triglycerides Encyclopedia: Xanthoma Health Topic: Cholesterol Health Topic: High Cholesterol in Children and Teens Health Topic: Lipid Metabolism Disorders Genetic and Rare Diseases Information Center (1 ...

  16. Genetics Home Reference: globozoospermia

    Science.gov (United States)

    ... man by blocking sperm head elongation and acrosome formation. Am J Hum Genet. 2011 Mar 11;88(3):351-61. doi: 10.1016/j.ajhg.2011.02.007. Citation on PubMed or Free article on PubMed Central Koscinski I, Elinati E, Fossard C, Redin C, Muller J, Velez de la Calle J, Schmitt F, Ben Khelifa M, Ray ...

  17. Genetics Home Reference: spondylothoracic dysostosis

    Science.gov (United States)

    ... not occur properly, which results in malformation and fusion of the bones of the spine and ribs ... 2010 Nov 23. Citation on PubMed More from Genetics Home Reference Bulletins March is Trisomy Awareness Month ...

  18. Genetics Home Reference: retroperitoneal fibrosis

    Science.gov (United States)

    ... Retroperitoneal fibrosis: a clinicopathologic study with respect to immunoglobulin G4. Am J Surg Pathol. 2009 Dec;33(12):1833-9. Citation on PubMed More from Genetics Home Reference Bulletins March is Trisomy Awareness Month ...

  19. Genetics Home Reference: primary myelofibrosis

    Science.gov (United States)

    ... O, Vainchenker W, Najman A, Bellanné-Chantelot C; French Group of Familial Myeloproliferative Disorders. Analysis of the ... 8520-30. Review. Citation on PubMed More from Genetics Home Reference Bulletins March is Trisomy Awareness Month ...

  20. Genetics Home Reference: Norrie disease

    Science.gov (United States)

    ... J, Bonnefont JP. NDP gene mutations in 14 French families with Norrie disease. Hum Mutat. 2003 Dec; ... 6):883-95. Citation on PubMed More from Genetics Home Reference Bulletins March is Trisomy Awareness Month ...

  1. Genetics Home Reference: cyclic neutropenia

    Science.gov (United States)

    ... neutropenia: a study of 81 patients from the French Neutropenia Register. Blood. 2004 Jun 1;103(11): ... 8):1032-41. Citation on PubMed More from Genetics Home Reference Bulletins March is Trisomy Awareness Month ...

  2. Genetics Home Reference: hidradenitis suppurativa

    Science.gov (United States)

    ... Garin S. Clinical characteristics of a series of 302 French patients with hidradenitis suppurativa, with an analysis of ... 2010 Oct 7. Citation on PubMed More from Genetics Home Reference Bulletins March is Trisomy Awareness Month ...

  3. Genetics Home Reference: Grange syndrome

    Science.gov (United States)

    ... X, Yang ML; University of Washington Center for Mendelian Genomics, Bamshad MJ, Nickerson DA, Gornik HL, Ganesh ... 3):190-5. Citation on PubMed More from Genetics Home Reference Bulletins March is Trisomy Awareness Month ...

  4. Genetics Home Reference: Maffucci syndrome

    Science.gov (United States)

    ... Boon LM, Vikkula M, Kurek KC, Szuhai K, French PJ, Bovée JV. Somatic mosaic IDH1 and IDH2 ... or Free article on PubMed Central More from Genetics Home Reference Bulletins March is Trisomy Awareness Month ...

  5. Genetics Home Reference: Ollier disease

    Science.gov (United States)

    ... Boon LM, Vikkula M, Kurek KC, Szuhai K, French PJ, Bovée JV. Somatic mosaic IDH1 and IDH2 ... or Free article on PubMed Central More from Genetics Home Reference Bulletins March is Trisomy Awareness Month ...

  6. Genetics Home Reference: genetic epilepsy with febrile seizures plus

    Science.gov (United States)

    ... Health Conditions Genetic epilepsy with febrile seizures plus Genetic epilepsy with febrile seizures plus Printable PDF Open ... 2017 May 2. Citation on PubMed More from Genetics Home Reference Bulletins Genetics Home Reference Celebrates Its ...

  7. Genetics Home Reference: hereditary hyperekplexia

    Science.gov (United States)

    ... the nose, extend their head forward and have spasms of the limb and neck muscles. Rarely, infants ... Genetic Testing (5 links) Genetic Testing Registry: Early infantile epileptic encephalopathy 8 Genetic Testing Registry: Hyperekplexia Genetic ...

  8. Genetics Home Reference: Farber lipogranulomatosis

    Science.gov (United States)

    ... features. Type 1 is the most common, or classical, form of this condition and is associated with ... be inherited? More about Inheriting Genetic Conditions Diagnosis & Management Resources Genetic Testing (1 link) Genetic Testing Registry: ...

  9. Genetics Home Reference: Glanzmann thrombasthenia

    Science.gov (United States)

    ... those of Romani ethnicity, particularly people within the French Manouche community. Related Information What information about a genetic condition can statistics provide? Why are some genetic ...

  10. Genetics Home Reference: Schinzel-Giedion syndrome

    Science.gov (United States)

    ... Patel MS. Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria. Am J Med Genet ... 2010.01552.x. Citation on PubMed More from Genetics Home Reference Bulletins March is Trisomy Awareness Month ...

  11. Genetics Home Reference: maple syrup urine disease

    Science.gov (United States)

    ... BH. Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders. Hum Mol Genet. ... gov/books/NBK1319/ Citation on PubMed More from Genetics Home Reference Bulletins March is Trisomy Awareness Month ...

  12. Genetics Home Reference: psoriatic arthritis

    Science.gov (United States)

    ... 2 links) American Society for Surgery of the Hand Johns Hopkins Arthritis Center General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are genetic conditions diagnosed? How ...

  13. Genetics Home Reference: hereditary xanthinuria

    Science.gov (United States)

    ... Testing (2 links) Genetic Testing Registry: Deficiency of xanthine oxidase Genetic Testing Registry: Xanthinuria type 2 Other Diagnosis ... xanthine dehydrogenase and aldehyde oxidase xanthine dehydrogenase deficiency xanthine oxidase deficiency xanthinuria XDH deficiency Related Information How are ...

  14. Genetics Home Reference: dystonia 6

    Science.gov (United States)

    ... neck, causing problems with speaking (dysarthria) and eating (dysphagia). Eyelid twitching (blepharospasm) may also occur. Involvement of ... Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are genetic conditions diagnosed? How ...

  15. Genetics Home Reference: PURA syndrome

    Science.gov (United States)

    ... tone (hypotonia) and feeding difficulties. Problems with swallowing (dysphagia) can last throughout life. In addition, affected infants ... Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are genetic conditions diagnosed? How ...

  16. Genetics Home Reference: arginase deficiency

    Science.gov (United States)

    ... in ammonia may lead to episodes of irritability, refusal to eat, and vomiting. In some affected individuals, ... links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are genetic ...

  17. Genetics Home Reference: Dupuytren contracture

    Science.gov (United States)

    ... 60 develop the disorder. Studies suggest that a genetic predisposition to develop this disorder may have been spread through northern Europe and Britain by the Vikings. Dupuytren contracture is less common in ... information about a genetic condition can statistics provide? Why are some genetic ...

  18. Genetics Home Reference: Williams syndrome

    Science.gov (United States)

    ... CA, Berman KF. Neural correlates of genetically abnormal social cognition in Williams syndrome. Nat Neurosci. 2005 Aug;8(8):991-3. Epub 2005 Jul 10. Citation on PubMed Meyer-Lindenberg A, Mervis CB, Berman KF. Neural mechanisms in Williams syndrome: a unique window to genetic ...

  19. Genetics Home Reference: proopiomelanocortin deficiency

    Science.gov (United States)

    ... individuals are prone to weight-related conditions like cardiovascular disease or type 2 diabetes . Low levels of ACTH ... to run in my family? What is the prognosis of a genetic condition? Genetic and Rare Diseases Information Center Frequency POMC deficiency is a rare ...

  20. Mendelian randomization: genetic anchors for causal inference in epidemiological studies

    Science.gov (United States)

    Davey Smith, George; Hemani, Gibran

    2014-01-01

    Observational epidemiological studies are prone to confounding, reverse causation and various biases and have generated findings that have proved to be unreliable indicators of the causal effects of modifiable exposures on disease outcomes. Mendelian randomization (MR) is a method that utilizes genetic variants that are robustly associated with such modifiable exposures to generate more reliable evidence regarding which interventions should produce health benefits. The approach is being widely applied, and various ways to strengthen inference given the known potential limitations of MR are now available. Developments of MR, including two-sample MR, bidirectional MR, network MR, two-step MR, factorial MR and multiphenotype MR, are outlined in this review. The integration of genetic information into population-based epidemiological studies presents translational opportunities, which capitalize on the investment in genomic discovery research. PMID:25064373

  1. Genetics Home Reference: CHOPS syndrome

    Science.gov (United States)

    ... Defects Patient Support and Advocacy Resources (4 links) American Heart Association Contact a Family: Heart Defects The Arc: For People with Intellectual and Developmental Disabilities University of Kansas Genetics Education Center Resource List: ...

  2. Genetics Home Reference: essential thrombocythemia

    Science.gov (United States)

    ... splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia. Nat Genet. 1998 Jan;18(1):49-52. ... deficiency Depression Pelizaeus-Merzbacher-like disease type 1 All New & ...

  3. Genetics Home Reference: spondylocostal dysostosis

    Science.gov (United States)

    ... Tube Defects Health Topic: Scoliosis Health Topic: Spina Bifida Health Topic: Spine Injuries and Disorders Genetic and Rare Diseases Information Center (1 link) Spondylocostal dysostosis ... Educational Resources (7 links) Cleveland Clinic: ...

  4. Genetics Home Reference: Stormorken syndrome

    Science.gov (United States)

    ... lack of a functioning spleen (asplenia), scaly skin (ichthyosis), headaches, and difficulty with reading and spelling (dyslexia). ... thrombocytopathia, muscle fatigue, asplenia, miosis, migraine, dyslexia and ichthyosis. Clin Genet. 1985 Nov;28(5):367-74. ...

  5. Genetics Home Reference: epidermolytic hyperkeratosis

    Science.gov (United States)

    ... link) The Swedish Information Centre for Rare Diseases: Ichthyosis General Information from MedlinePlus (5 links) Diagnostic Tests ... congenita of Brocq bullous ichthyosiform erythroderma EHK epidermolytic ichthyosis hyperkeratosis, epidermolytic Related Information How are genetic conditions ...

  6. Genetics Home Reference: harlequin ichthyosis

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions Harlequin ichthyosis Harlequin ichthyosis Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Harlequin ichthyosis is a severe genetic disorder that mainly affects ...

  7. Genetics Home Reference: androgenetic alopecia

    Science.gov (United States)

    ... ovary syndrome (PCOS). PCOS is characterized by a hormonal imbalance that can lead to irregular menstruation, acne, excess hair elsewhere on the body (hirsutism), and weight ... hair loss. Other hormonal, environmental, and genetic factors that have not been ...

  8. Genetics Home Reference: ovarian cancer

    Science.gov (United States)

    ... single protein building blocks (amino acids) in the p53 protein, which reduces or eliminates the protein's tumor ... of the ovary malignant tumor of the ovary ovarian carcinoma Related Information How are genetic conditions and genes ...

  9. Genetics Home Reference: Darier disease

    Science.gov (United States)

    ... England, and 1 in 100,000 people in Denmark. Related Information What information about a genetic condition ... gene. These cases occur in people with no history of the disorder in their family. The linear ...

  10. Genetics Home Reference: FG syndrome

    Science.gov (United States)

    ... genetic condition that affects many parts of the body and occurs almost exclusively in males. "FG" represents the surname initials of the first family diagnosed with the disorder. FG syndrome affects intelligence and behavior. Almost everyone with the condition has ...

  11. Genetics Home Reference: prolidase deficiency

    Science.gov (United States)

    ... instructions for making the enzyme prolidase, also called peptidase D. Prolidase helps divide certain dipeptides, which are ... Names for This Condition hyperimidodipeptiduria imidodipeptidase deficiency PD peptidase deficiency Related Information How are genetic conditions and ...

  12. Genetics Home Reference: DOORS syndrome

    Science.gov (United States)

    ... This Page Campeau PM, Hennekam RC; DOORS syndrome collaborative group. DOORS syndrome: phenotype, genotype and comparison with ... M. DOOR syndrome: clinical report, literature review and discussion of natural history. Am J Med Genet A. ...

  13. Genetics Home Reference: Kuskokwim syndrome

    Science.gov (United States)

    ... region of southwest Alaska known as the Kuskokwim River Delta. In Kuskokwim syndrome , contractures most commonly affect ... syndrome 1 General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery ...

  14. Genetics Home Reference: Clouston syndrome

    Science.gov (United States)

    ... junctions, which permit the transport of nutrients, charged atoms (ions), and signaling molecules between neighboring cells. The ... direct-to-consumer genetic testing? What is precision medicine? What is newborn screening? New Pages Obstructive sleep ...

  15. Genetics Home Reference: Christianson syndrome

    Science.gov (United States)

    ... acts as a channel to exchange positively charged atoms (ions) of sodium (Na+) with hydrogen ions (H+). ... direct-to-consumer genetic testing? What is precision medicine? What is newborn screening? New Pages Obstructive sleep ...

  16. Genetics Home Reference: Brugada syndrome

    Science.gov (United States)

    ... sodium channel, which normally transports positively charged sodium atoms (ions) into heart muscle cells. This type of ... direct-to-consumer genetic testing? What is precision medicine? What is newborn screening? New Pages Obstructive sleep ...

  17. Genetics Home Reference: Andermann syndrome

    Science.gov (United States)

    ... cotransporter. This protein is involved in moving charged atoms (ions) of potassium (K) and chlorine (Cl) across ... direct-to-consumer genetic testing? What is precision medicine? What is newborn screening? New Pages Obstructive sleep ...

  18. Genetics Home Reference: gnathodiaphyseal dysplasia

    Science.gov (United States)

    ... activated) in the presence of positively charged calcium atoms (calcium ions); these channels are known as calcium- ... direct-to-consumer genetic testing? What is precision medicine? What is newborn screening? New Pages Obstructive sleep ...

  19. Genetics Home Reference: isolated hyperchlorhidrosis

    Science.gov (United States)

    ... molecule (bicarbonate ion) and a positively charged hydrogen atom (known as a proton). The presence of protons ... direct-to-consumer genetic testing? What is precision medicine? What is newborn screening? New Pages Obstructive sleep ...

  20. Genetics Home Reference: Brody myopathy

    Science.gov (United States)

    ... relaxation by storing and releasing positively charged calcium atoms (calcium ions). When calcium ions are transported out ... direct-to-consumer genetic testing? What is precision medicine? What is newborn screening? New Pages Obstructive sleep ...

  1. Genetics Home Reference: familial hyperaldosteronism

    Science.gov (United States)

    ... channel, which means that it transports positively charged atoms (ions) of potassium into and out of cells. ... direct-to-consumer genetic testing? What is precision medicine? What is newborn screening? New Pages Obstructive sleep ...

  2. Genetics Home Reference: Bartter syndrome

    Science.gov (United States)

    ... transport also affect the reabsorption of other charged atoms (ions), including potassium and calcium. The resulting imbalance ... direct-to-consumer genetic testing? What is precision medicine? What is newborn screening? New Pages Obstructive sleep ...

  3. Genetics Home Reference: essential tremor

    Science.gov (United States)

    ... may be aggravated by emotional stress, anxiety, fatigue, hunger, caffeine, cigarette smoking, or temperature extremes. Essential tremor ... 6. Review. Citation on PubMed Testa CM. Key issues in essential tremor genetics research: Where are we ...

  4. Genetics Home Reference: periventricular heterotopia

    Science.gov (United States)

    ... mild intellectual disability. Difficulty with reading and spelling (dyslexia) and movement problems have been reported in some ... if a disorder seems to run in my family? What is the prognosis of a genetic condition? ...

  5. Genetics Home Reference: Graves disease

    Science.gov (United States)

    ... Tomer Y. Cutting edge: the etiology of autoimmune thyroid diseases. Clin Rev Allergy Immunol. 2011 Oct;41(2): ... The search for the genetic contribution to autoimmune thyroid disease: the never ending story? Brief Funct Genomics. 2011 ...

  6. Genetics Home Reference: Hashimoto thyroiditis

    Science.gov (United States)

    ... for This Page Dong YH, Fu DG. Autoimmune thyroid disease: mechanism, genetics and current knowledge. Eur Rev Med ... Tomer Y. Cutting edge: the etiology of autoimmune thyroid diseases. Clin Rev Allergy Immunol. 2011 Oct;41(2): ...

  7. Genetics Home Reference: Joubert syndrome

    Science.gov (United States)

    ... such as Ashkenazi Jewish, French-Canadian, and Hutterite populations. Related Information What information about a genetic condition ... of many types of cells, including brain cells (neurons) and certain cells in the kidneys and liver. ...

  8. Genetics Home Reference: familial porencephaly

    Science.gov (United States)

    ... Vahedi K, Alamowitch S. Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease. Curr ... disorder Leprosy Isolated sulfite oxidase deficiency All New & Updated ...

  9. Genetics Home Reference: Donohue syndrome

    Science.gov (United States)

    ... Genetic Testing Registry: Leprechaunism syndrome Other Diagnosis and Management Resources (1 link) GeneReview: INSR-Related Severe Syndromic Insulin Resistance General Information from MedlinePlus (5 links) Diagnostic Tests ...

  10. Genetics Home Reference: Waardenburg syndrome

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Waardenburg syndrome Waardenburg syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Waardenburg syndrome is a group of genetic conditions that can ...

  11. Genetics Home Reference: ocular albinism

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions Ocular albinism Ocular albinism Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Ocular albinism is a genetic condition that primarily affects the ...

  12. Genetics Home Reference: Cockayne syndrome

    Science.gov (United States)

    ... disorder characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at ... Drug: Metronidazole Oral Encyclopedia: Failure to Thrive Encyclopedia: Microcephaly Health Topic: Growth Disorders Genetic and Rare Diseases ...

  13. Genetics Home Reference: Peters anomaly

    Science.gov (United States)

    ... navigation Home Page Search Home Health Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Share: Email Facebook Twitter Home Health Conditions Peters anomaly Peters anomaly Printable PDF Open All Close All ...

  14. Genetics Home Reference: Fraser syndrome

    Science.gov (United States)

    ... navigation Home Page Search Home Health Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Share: Email ... of the genitalia and the urinary tract (genitourinary anomalies). Other tissues and organs can also be affected. ...

  15. Genetics Home Reference: Greenberg dysplasia

    Science.gov (United States)

    ... navigation Home Page Search Home Health Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Share: Email ... K. Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear ...

  16. Genetics Home Reference: RAPADILINO syndrome

    Science.gov (United States)

    ... navigation Home Page Search Home Health Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Share: Email ... Rapadilino syndrome Hospital for Sick Children: Radial Ray Anomaly MalaCards: rapadilino syndrome March of Dimes: Cleft Lip ...

  17. Genetics Home Reference: familial candidiasis

    Science.gov (United States)

    ... Immune System and Disorders Health Topic: Yeast Infections Genetic and Rare Diseases Information Center (1 link) Chronic mucocutaneous candidiasis (CMC) Additional NIH Resources (1 link) National Institute of Allergy and Infectious Diseases: CARD9 Deficiency and Other Syndromes of Susceptibility ...

  18. Genetics Home Reference: Omenn syndrome

    Science.gov (United States)

    ... Immunodeficiency Disorders Health Topic: Immune System and Disorders Genetic and Rare Diseases Information Center (1 link) Omenn syndrome Additional NIH Resources (1 link) National Institute of Allergy and Infectious Diseases: Primary Immune Deficiency Diseases Educational Resources (8 ...

  19. Genetics Home Reference: osteogenesis imperfecta

    Science.gov (United States)

    ... two extremes. Increasingly, genetic factors are used to define the different forms of osteogenesis imperfecta . The milder ... for Links Data Files & API Site Map Subscribe Customer Support USA.gov Copyright Privacy Accessibility FOIA Viewers & ...

  20. Genetics Home Reference: malignant hyperthermia

    Science.gov (United States)

    ... particular ethnic groups? Genetic Changes Variations of the CACNA1S and RYR1 genes increase the risk of developing ... the condition, MHS5, results from mutations in the CACNA1S gene. These mutations are less common, causing less ...

  1. Genetics Home Reference: metachromatic leukodystrophy

    Science.gov (United States)

    ... 1 in 75 in a small group of Jews who immigrated to Israel from southern Arabia (Habbanites), ... from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How ...

  2. Genetics Home Reference: congenital hyperinsulinism

    Science.gov (United States)

    ... people with congenital hyperinsulinism can also occur after eating. Related Information What does it mean if a disorder seems to run in my family? What is the prognosis of a genetic condition? ...

  3. Genetics Home Reference: argininosuccinic aciduria

    Science.gov (United States)

    ... aciduria My46 Trait Profile Orphanet: Argininosuccinic aciduria Screening, Technology and Research in Genetics Vanderbilt Children's Hospital (PDF) Virginia Department of Health (PDF) Patient Support and Advocacy Resources (4 links) ...

  4. Genetics Home Reference: Dent disease

    Science.gov (United States)

    ... collapse boxes. Description Dent disease is a chronic kidney disorder that occurs almost exclusively in males. In affected ... because its features overlap with those of other kidney disorders. Related Information What information about a genetic condition ...

  5. Genetics Home Reference: allergic asthma

    Science.gov (United States)

    ... breathing difficulty. These episodes, sometimes referred to as asthma attacks, are triggered by irritation of the inflamed airways. ... tobacco smoke, in people with allergic asthma . An asthma attack is characterized by tightening of the muscles around ...

  6. Genetics Home Reference: Down syndrome

    Science.gov (United States)

    ... in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosome 21 . If one of these atypical reproductive cells contributes to the genetic makeup of a ...

  7. Genetics Home Reference: trisomy 18

    Science.gov (United States)

    ... in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosome 18 . If one of these atypical reproductive cells contributes to the genetic makeup of a ...

  8. Genetics Home Reference: Klinefelter syndrome

    Science.gov (United States)

    ... in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain one or more extra copies of the X chromosome as a result ... of these atypical reproductive cells contributes to the genetic makeup of a ...

  9. Genetics Home Reference: trisomy 13

    Science.gov (United States)

    ... in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosome 13 . If one of these atypical reproductive cells contributes to the genetic makeup of a ...

  10. Genetics Home Reference: Hartsfield syndrome

    Science.gov (United States)

    ... Epub 2016 May 12. Citation on PubMed Shi Y, Dhamija R, Wren C, Wang X, Babovic-Vuksanovic D, Spector E. Detection of gonadal mosaicism in Hartsfield syndrome by next generation sequencing. Am J Med Genet A. 2016 Sep ...

  11. Genetics Home Reference: CLPB deficiency

    Science.gov (United States)

    ... Liao M, Labuda D, Samuels ME, Hamdan FF, Vande Velde C, Rouleau GA, Drapeau P, Michaud JL. Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria. J Med Genet. 2015 May;52(5):303-11. ...

  12. Genetics Home Reference: ADNP syndrome

    Science.gov (United States)

    ... der Aa N. A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. Nat Genet. 2014 Apr;46(4):380-4. doi: 10.1038/ng.2899. Citation on PubMed or ... of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP ...

  13. Genetics Home Reference: acrocallosal syndrome

    Science.gov (United States)

    ... E, Perveen R, Donnai D, Wall S, Black GC. De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and ... C, Biesecker LG, Willems PJ, Wessels MW. A de novo GLI3 mutation in a patient with acrocallosal syndrome. Am J Med Genet A. 2013 Jun;161A( ...

  14. Genetics Home Reference: Griscelli syndrome

    Science.gov (United States)

    ... Tezcan I, Ersoy F, Houdusse A, Fischer A, de Saint Basile G. Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect ( ... N, Bianchi D, Fischer A, Le Deist F, de Saint Basile G. Mutations in RAB27A ... syndrome associated with haemophagocytic syndrome. Nat Genet. 2000 Jun; ...

  15. Genetics Home Reference: parathyroid cancer

    Science.gov (United States)

    ... of parathyroid cancer are not caused by inherited genetic factors. These cancers are associated with somatic mutations that are acquired during a person's lifetime, and they do not cluster in families. A predisposition to parathyroid cancer caused by a germline mutation ...

  16. Genetics Home Reference: Yao syndrome

    Science.gov (United States)

    ... than half of affected individuals. Dry eyes and dry mouth (described as "sicca-like" symptoms, which refers to dryness) are reported in about half of people with this disease. Other potential signs and symptoms of Yao syndrome include mouth sores, chest pain, and enlargement of ...

  17. Genetics Home Reference: Beckwith-Wiedemann syndrome

    Science.gov (United States)

    ... WN, Curley R, Macdonald F, Maher ER. Mitotic recombination and uniparental disomy in Beckwith-Wiedemann syndrome. Genomics. ... 43R-47R. Review. Citation on PubMed More from Genetics Home Reference Bulletins Rare Disease Day 2018 Darwin ...

  18. Genetics Home Reference: popliteal pterygium syndrome

    Science.gov (United States)

    ... removed. Affected individuals may also have webbing or fusion of the fingers or toes ( syndactyly ), characteristic triangular ... gov/books/NBK1407/ Citation on PubMed More from Genetics Home Reference Bulletins March is Trisomy Awareness Month ...

  19. Genetics Home Reference: lymphedema-distichiasis syndrome

    Science.gov (United States)

    ... PubMed Central Mellor RH, Brice G, Stanton AW, French J, Smith A, Jeffery S, Levick JR, Burnand KG, ... 2008.03962.x. Citation on PubMed More from Genetics Home Reference Bulletins March is Trisomy Awareness Month ...

  20. Genetics Home Reference: mitochondrial trifunctional protein deficiency

    Science.gov (United States)

    ... of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein ... 6):684-9. Citation on PubMed More from Genetics Home Reference Bulletins March is Trisomy Awareness Month ...

  1. Genetics Home Reference: Walker-Warburg syndrome

    Science.gov (United States)

    ... protein helps anchor the structural framework inside each cell (cytoskeleton) to the lattice of proteins and other molecules outside the cell (extracellular matrix). In skeletal muscles, the anchoring function ...

  2. Referring patients for a medical genetics consultation and genetic counseling.

    Science.gov (United States)

    Sutton, Reid

    2011-01-01

    Clinical geneticists and genetic counselors provide diagnosis and counseling for genetic disorders affecting every organ system and every age group. Genetic counselors are more focused on informing patients and families about the inheritance of a genetic disorder and providing recurrence risk counseling, support and information about a diagnosis and reproductive options. Medical geneticists may also share some of these roles in addition to establishing a diagnosis and providing medical management. Medical Geneticists receive training in ACGME-accredited residency programs and are certified by the American Board of Medical Genetics. Genetic counseling is a masters degree program and certification is granted by the American Board of Genetic Counseling. When a patient/family is referred to a Clinical Geneticist, they may expect a thorough evaluation in an effort to establish a diagnosis that may provide information about etiology, prognosis, therapy and recurrence risk. Copyright © 2011 S. Karger AG, Basel.

  3. A second-generation anchored genetic linkage map of the tammar wallaby (Macropus eugenii

    Directory of Open Access Journals (Sweden)

    Patel Hardip R

    2011-08-01

    Full Text Available Abstract Background The tammar wallaby, Macropus eugenii, a small kangaroo used for decades for studies of reproduction and metabolism, is the model Australian marsupial for genome sequencing and genetic investigations. The production of a more comprehensive cytogenetically-anchored genetic linkage map will significantly contribute to the deciphering of the tammar wallaby genome. It has great value as a resource to identify novel genes and for comparative studies, and is vital for the ongoing genome sequence assembly and gene ordering in this species. Results A second-generation anchored tammar wallaby genetic linkage map has been constructed based on a total of 148 loci. The linkage map contains the original 64 loci included in the first-generation map, plus an additional 84 microsatellite loci that were chosen specifically to increase coverage and assist with the anchoring and orientation of linkage groups to chromosomes. These additional loci were derived from (a sequenced BAC clones that had been previously mapped to tammar wallaby chromosomes by fluorescence in situ hybridization (FISH, (b End sequence from BACs subsequently FISH-mapped to tammar wallaby chromosomes, and (c tammar wallaby genes orthologous to opossum genes predicted to fill gaps in the tammar wallaby linkage map as well as three X-linked markers from a published study. Based on these 148 loci, eight linkage groups were formed. These linkage groups were assigned (via FISH-mapped markers to all seven autosomes and the X chromosome. The sex-pooled map size is 1402.4 cM, which is estimated to provide 82.6% total coverage of the genome, with an average interval distance of 10.9 cM between adjacent markers. The overall ratio of female/male map length is 0.84, which is comparable to the ratio of 0.78 obtained for the first-generation map. Conclusions Construction of this second-generation genetic linkage map is a significant step towards complete coverage of the tammar wallaby

  4. A genetically anchored physical framework for Theobroma cacao cv. Matina 1-6

    Directory of Open Access Journals (Sweden)

    Kuhn David N

    2011-08-01

    Full Text Available Abstract Background The fermented dried seeds of Theobroma cacao (cacao tree are the main ingredient in chocolate. World cocoa production was estimated to be 3 million tons in 2010 with an annual estimated average growth rate of 2.2%. The cacao bean production industry is currently under threat from a rise in fungal diseases including black pod, frosty pod, and witches' broom. In order to address these issues, genome-sequencing efforts have been initiated recently to facilitate identification of genetic markers and genes that could be utilized to accelerate the release of robust T. cacao cultivars. However, problems inherent with assembly and resolution of distal regions of complex eukaryotic genomes, such as gaps, chimeric joins, and unresolvable repeat-induced compressions, have been unavoidably encountered with the sequencing strategies selected. Results Here, we describe the construction of a BAC-based integrated genetic-physical map of the T. cacao cultivar Matina 1-6 which is designed to augment and enhance these sequencing efforts. Three BAC libraries, each comprised of 10× coverage, were constructed and fingerprinted. 230 genetic markers from a high-resolution genetic recombination map and 96 Arabidopsis-derived conserved ortholog set (COS II markers were anchored using pooled overgo hybridization. A dense tile path consisting of 29,383 BACs was selected and end-sequenced. The physical map consists of 154 contigs and 4,268 singletons. Forty-nine contigs are genetically anchored and ordered to chromosomes for a total span of 307.2 Mbp. The unanchored contigs (105 span 67.4 Mbp and therefore the estimated genome size of T. cacao is 374.6 Mbp. A comparative analysis with A. thaliana, V. vinifera, and P. trichocarpa suggests that comparisons of the genome assemblies of these distantly related species could provide insights into genome structure, evolutionary history, conservation of functional sites, and improvements in physical map

  5. A genetically anchored physical framework for Theobroma cacao cv. Matina 1-6

    Science.gov (United States)

    2011-01-01

    Background The fermented dried seeds of Theobroma cacao (cacao tree) are the main ingredient in chocolate. World cocoa production was estimated to be 3 million tons in 2010 with an annual estimated average growth rate of 2.2%. The cacao bean production industry is currently under threat from a rise in fungal diseases including black pod, frosty pod, and witches' broom. In order to address these issues, genome-sequencing efforts have been initiated recently to facilitate identification of genetic markers and genes that could be utilized to accelerate the release of robust T. cacao cultivars. However, problems inherent with assembly and resolution of distal regions of complex eukaryotic genomes, such as gaps, chimeric joins, and unresolvable repeat-induced compressions, have been unavoidably encountered with the sequencing strategies selected. Results Here, we describe the construction of a BAC-based integrated genetic-physical map of the T. cacao cultivar Matina 1-6 which is designed to augment and enhance these sequencing efforts. Three BAC libraries, each comprised of 10× coverage, were constructed and fingerprinted. 230 genetic markers from a high-resolution genetic recombination map and 96 Arabidopsis-derived conserved ortholog set (COS) II markers were anchored using pooled overgo hybridization. A dense tile path consisting of 29,383 BACs was selected and end-sequenced. The physical map consists of 154 contigs and 4,268 singletons. Forty-nine contigs are genetically anchored and ordered to chromosomes for a total span of 307.2 Mbp. The unanchored contigs (105) span 67.4 Mbp and therefore the estimated genome size of T. cacao is 374.6 Mbp. A comparative analysis with A. thaliana, V. vinifera, and P. trichocarpa suggests that comparisons of the genome assemblies of these distantly related species could provide insights into genome structure, evolutionary history, conservation of functional sites, and improvements in physical map assembly. A comparison between

  6. A genetically anchored physical framework for Theobroma cacao cv. Matina 1-6.

    Science.gov (United States)

    Saski, Christopher A; Feltus, Frank A; Staton, Margaret E; Blackmon, Barbara P; Ficklin, Stephen P; Kuhn, David N; Schnell, Raymond J; Shapiro, Howard; Motamayor, Juan Carlos

    2011-08-16

    The fermented dried seeds of Theobroma cacao (cacao tree) are the main ingredient in chocolate. World cocoa production was estimated to be 3 million tons in 2010 with an annual estimated average growth rate of 2.2%. The cacao bean production industry is currently under threat from a rise in fungal diseases including black pod, frosty pod, and witches' broom. In order to address these issues, genome-sequencing efforts have been initiated recently to facilitate identification of genetic markers and genes that could be utilized to accelerate the release of robust T. cacao cultivars. However, problems inherent with assembly and resolution of distal regions of complex eukaryotic genomes, such as gaps, chimeric joins, and unresolvable repeat-induced compressions, have been unavoidably encountered with the sequencing strategies selected. Here, we describe the construction of a BAC-based integrated genetic-physical map of the T. cacao cultivar Matina 1-6 which is designed to augment and enhance these sequencing efforts. Three BAC libraries, each comprised of 10× coverage, were constructed and fingerprinted. 230 genetic markers from a high-resolution genetic recombination map and 96 Arabidopsis-derived conserved ortholog set (COS) II markers were anchored using pooled overgo hybridization. A dense tile path consisting of 29,383 BACs was selected and end-sequenced. The physical map consists of 154 contigs and 4,268 singletons. Forty-nine contigs are genetically anchored and ordered to chromosomes for a total span of 307.2 Mbp. The unanchored contigs (105) span 67.4 Mbp and therefore the estimated genome size of T. cacao is 374.6 Mbp. A comparative analysis with A. thaliana, V. vinifera, and P. trichocarpa suggests that comparisons of the genome assemblies of these distantly related species could provide insights into genome structure, evolutionary history, conservation of functional sites, and improvements in physical map assembly. A comparison between the two T. cacao

  7. Genetics Home Reference: lactate dehydrogenase deficiency

    Science.gov (United States)

    ... this condition: lactate dehydrogenase-A deficiency (sometimes called glycogen storage disease XI) and lactate dehydrogenase-B deficiency. People with ... Resources Genetic Testing (2 links) Genetic Testing Registry: Glycogen storage disease XI Genetic Testing Registry: Lactate dehydrogenase B deficiency ...

  8. Genetics Home Reference: 47,XYY syndrome

    Science.gov (United States)

    ... These problems include attention deficit hyperactivity disorder (ADHD); depression; anxiety; and autism spectrum disorder , ... about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  9. Genetics Home Reference: ataxia neuropathy spectrum

    Science.gov (United States)

    ... can include involuntary muscle twitches (myoclonus), liver disease, depression, migraine headaches, or ... information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  10. Genetics Home Reference: Klippel-Trenaunay syndrome

    Science.gov (United States)

    ... which a genetic condition can be inherited? More about Inheriting Genetic Conditions ... Capillary Malformation (Port Wine Stain) Cincinnati Children's Hospital Medical Center: Capillary Lymphatic ...

  11. Underestimating calorie content when healthy foods are present: an averaging effect or a reference-dependent anchoring effect?

    Science.gov (United States)

    Forwood, Suzanna E; Ahern, Amy; Hollands, Gareth J; Fletcher, Paul C; Marteau, Theresa M

    2013-01-01

    Previous studies have shown that estimations of the calorie content of an unhealthy main meal food tend to be lower when the food is shown alongside a healthy item (e.g. fruit or vegetables) than when shown alone. This effect has been called the negative calorie illusion and has been attributed to averaging the unhealthy (vice) and healthy (virtue) foods leading to increased perceived healthiness and reduced calorie estimates. The current study aimed to replicate and extend these findings to test the hypothesized mediating effect of ratings of healthiness of foods on calorie estimates. In three online studies, participants were invited to make calorie estimates of combinations of foods. Healthiness ratings of the food were also assessed. The first two studies failed to replicate the negative calorie illusion. In a final study, the use of a reference food, closely following a procedure from a previously published study, did elicit a negative calorie illusion. No evidence was found for a mediating role of healthiness estimates. The negative calorie illusion appears to be a function of the contrast between a food being judged and a reference, supporting the hypothesis that the negative calorie illusion arises from the use of a reference-dependent anchoring and adjustment heuristic and not from an 'averaging' effect, as initially proposed. This finding is consistent with existing data on sequential calorie estimates, and highlights a significant impact of the order in which foods are viewed on how foods are evaluated.

  12. Pointing and Reference in Sign Language and Spoken Language: Anchoring vs. Identifying

    Science.gov (United States)

    Barberà, Gemma; Zwets, Martine

    2013-01-01

    In both signed and spoken languages, pointing serves to direct an addressee's attention to a particular entity. This entity may be either present or absent in the physical context of the conversation. In this article we focus on pointing directed to nonspeaker/nonaddressee referents in Sign Language of the Netherlands (Nederlandse Gebarentaal,…

  13. Genetics Home Reference: mucolipidosis II alpha/beta

    Science.gov (United States)

    ... N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population. Clin Genet. 2008 Mar;73( ... 135(3):333. Citation on PubMed More from Genetics Home Reference Bulletins March is Trisomy Awareness Month ...

  14. Genetics Home Reference: nonbullous congenital ichthyosiform erythroderma

    Science.gov (United States)

    ... red (erythroderma) and covered with fine, white scales (ichthyosis). Infants with NBCIE may develop infections, an excessive ... 8 links) Genetic Testing Registry: Autosomal recessive congenital ichthyosis 2 Genetic Testing Registry: Autosomal recessive congenital ichthyosis ...

  15. Genetics Home Reference: Shprintzen-Goldberg syndrome

    Science.gov (United States)

    ... those of people with a genetic condition called Marfan syndrome . For example, they may have long, slender fingers ( ... has signs and symptoms similar to those of Marfan syndrome and another genetic condition called Loeys-Dietz syndrome . ...

  16. Genetics Home Reference: spinocerebellar ataxia type 1

    Science.gov (United States)

    ... R, Giunti P. Clinical, genetic, molecular, and pathophysiological insights into spinocerebellar ataxia type 1. Cerebellum. 2008;7( ... editing and CRISPR-Cas9? What is direct-to-consumer genetic testing? What is precision medicine? What is ...

  17. Genetics Home Reference: spastic paraplegia type 2

    Science.gov (United States)

    ... Soderblom C, Blackstone C. Traffic accidents: molecular genetic insights into the pathogenesis of the hereditary spastic ... is direct-to-consumer genetic testing? What is precision medicine? What is ...

  18. Genetics Home Reference: Freeman-Sheldon syndrome

    Science.gov (United States)

    ... People with this disorder may have difficulty swallowing (dysphagia), a failure to gain weight and grow at ... Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are genetic conditions diagnosed? How ...

  19. Genetics Home Reference: distal myopathy 2

    Science.gov (United States)

    ... nasal. The weakness can also cause difficulty swallowing (dysphagia). Related Information What does it mean if a ... Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are genetic conditions diagnosed? How ...

  20. Genetics Home Reference: progressive external ophthalmoplegia

    Science.gov (United States)

    ... intolerance). Muscle weakness may also cause difficulty swallowing (dysphagia). When the muscle cells of affected individuals are ... Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are genetic conditions diagnosed? How ...

  1. Genetics Home Reference: hereditary diffuse gastric cancer

    Science.gov (United States)

    ... can include stomach pain, nausea, vomiting, difficulty swallowing (dysphagia), decreased appetite, and weight loss. If the cancer ... Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are genetic conditions diagnosed? How ...

  2. Genetics Home Reference: progressive supranuclear palsy

    Science.gov (United States)

    ... slow and slurred speech (dysarthria) and trouble swallowing (dysphagia). Most affected individuals also experience changes in personality ... Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are genetic conditions diagnosed? How ...

  3. Genetics Home Reference: spastic paraplegia type 7

    Science.gov (United States)

    ... in the arms; speech difficulties (dysarthria); difficulty swallowing (dysphagia); involuntary movements of the eyes (nystagmus); mild hearing ... Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are genetic conditions diagnosed? How ...

  4. Genetics Home Reference: lateral meningocele syndrome

    Science.gov (United States)

    ... or the genitourinary system, poor feeding, difficulty swallowing (dysphagia), and backflow of stomach acids into the esophagus ( ... Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are genetic conditions diagnosed? How ...

  5. Genetics Home Reference: Woodhouse-Sakati syndrome

    Science.gov (United States)

    ... can include difficulty with speech (dysarthria) or swallowing (dysphagia), mild intellectual disability, and hearing loss caused by ... Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are genetic conditions diagnosed? How ...

  6. Genetics Home Reference: eosinophil peroxidase deficiency

    Science.gov (United States)

    ... navigation Home Page Search Home Health Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Share: Email ... EPXD peroxidase and phospholipid deficiency in eosinophils Presentey anomaly Related Information How are genetic conditions and genes ...

  7. Genetics Home Reference: Denys-Drash syndrome

    Science.gov (United States)

    ... Conditions Diagnosis & Management Resources Genetic Testing (1 link) Genetic Testing Registry: Drash syndrome Other Diagnosis and Management Resources (2 links) GeneReview: Wilms Tumor Predisposition MedlinePlus Encyclopedia: Nephrotic Syndrome General Information from MedlinePlus ( ...

  8. Genetics Home Reference: cerebral cavernous malformation

    Science.gov (United States)

    ... malformations affect about 0.5 percent of the population worldwide. Related Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common in particular ethnic groups? Genetic Changes Mutations in at least three genes, KRIT1 (also ...

  9. Genetics Home Reference: hereditary cerebral amyloid angiopathy

    Science.gov (United States)

    ... the genes associated with hereditary cerebral amyloid angiopathy APP CST3 ITM2B Related Information What is a gene? What is a gene mutation ... a disorder seems to run in my family? What are the different ways in which a genetic condition can be inherited? More about ... APP-related Genetic Testing Registry: Dementia familial British Genetic ...

  10. Genetics Home Reference: Y chromosome infertility

    Science.gov (United States)

    ... chromosomal abnormalities in 2078 infertile couples referred for assisted reproductive techniques. Hum Reprod. 2005 Feb;20(2):437-42. ... Yq microdeletions in infertile italian couples referred for assisted reproductive technique. Sex Dev. 2007;1(6):347-52. doi: ...

  11. Genetics Home Reference: Jackson-Weiss syndrome

    Science.gov (United States)

    ... collapse boxes. Description Jackson-Weiss syndrome is a genetic disorder characterized by foot abnormalities and the premature fusion of certain skull bones (craniosynostosis). This early fusion ...

  12. Genetics Home Reference: X-linked adrenoleukodystrophy

    Science.gov (United States)

    ... particular ethnic groups? Genetic Changes Mutations in the ABCD1 gene cause X-linked adrenoleukodystrophy . The ABCD1 gene provides instructions for producing the adrenoleukodystrophy protein ( ...

  13. Genetics Home Reference: Chanarin-Dorfman syndrome

    Science.gov (United States)

    ... disease with ichthyosis Triglyceride storage disease with ichthyosis triglyceride storage disease with impaired long-chain fatty acid ... Lipid Metabolism Disorders Genetic and Rare Diseases Information Center (1 ...

  14. Genetics Home Reference: oculopharyngeal muscular dystrophy

    Science.gov (United States)

    ... functioning (cognitive decline), and psychiatric symptoms such as depression or strongly held false beliefs (delusions). Related Information What does it mean if a disorder seems to run in my family? What is the prognosis of a genetic condition? Genetic and Rare Diseases Information Center Frequency ...

  15. Genetics Home Reference: Amish lethal microcephaly

    Science.gov (United States)

    ... 1 in 500 newborns in the Old Order Amish population of Pennsylvania. It has not been found outside this population. Related Information What information about a genetic condition can statistics provide? Why are some genetic ... gene cause Amish lethal microcephaly . The SLC25A19 gene provides instructions for ...

  16. Genetics Home Reference: critical congenital heart disease

    Science.gov (United States)

    ... MW, Willems PJ. Genetic factors in non-syndromic congenital heart malformations. Clin Genet. 2010 Aug;78(2):103-23. doi: 10.1111/j.1399-0004.2010.01435.x. Epub 2010 May 17. Review. Citation on ... genes in congenital heart disease. Nature. 2013 Jun 13;498(7453): ...

  17. Genetics Home Reference: phosphoglycerate mutase deficiency

    Science.gov (United States)

    ... Resources Genetic Testing (1 link) Genetic Testing Registry: Glycogen storage disease type X General Information from MedlinePlus (5 links) ... Other Names for This Condition deficiency mutase phosphoglycerate glycogen storage disease X GSD X GSD10 GSDX myopathy due to ...

  18. Genetics Home Reference: hereditary hemorrhagic telangiectasia

    Science.gov (United States)

    ... Girod S, Bailly S, Plauchu H. Hereditary hemorrhagic telangiectasia: from molecular biology to patient care. J Thromb Haemost. 2010 Jul; ... Bayrak-Toydemir P. Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era. Front Genet. 2015 Jan 26;6:1. doi: ... JA. Hereditary hemorrhagic telangiectasia: ...

  19. Genetics Home Reference: Andersen-Tawil syndrome

    Science.gov (United States)

    ... The long QT syndrome family of cardiac ion channelopathies: a HuGE review. Genet Med. 2006 Mar;8( ... Tristani-Firouzi M, Etheridge SP. Kir 2.1 channelopathies: the Andersen-Tawil syndrome. Pflugers Arch. 2010 Jul; ...

  20. Genetics Home Reference: tuberous sclerosis complex

    Science.gov (United States)

    ... sclerosis, type 2 Genetics Education Materials for School Success (GEMSS) Massachusetts General Hospital Merck Manual Consumer Version ... for Links Data Files & API Site Map Subscribe Customer Support USA.gov Copyright Privacy Accessibility FOIA Viewers & ...

  1. Genetics Home Reference: Ehlers-Danlos syndrome

    Science.gov (United States)

    ... c.31538. Epub 2017 Feb 1. Formal Treatment/Management Guidelines (7 links) Bowen JM, Sobey GJ, Burrows NP, Colombi M, Lavallee ME, Malfait F, Francomano CA. Ehlers-Danlos syndrome, classical type. Am J Med Genet C Semin Med ...

  2. Genetics Home Reference: CLN4 disease

    Science.gov (United States)

    ... balance (ataxia), tremors or other involuntary movements (motor tics), and speech difficulties (dysarthria). The signs and symptoms ... direct-to-consumer genetic testing? What is precision medicine? What is newborn screening? New Pages Depression GABA- ...

  3. Genetics Home Reference: chorea-acanthocytosis

    Science.gov (United States)

    ... and throat. These muscle twitches can cause vocal tics (such as grunting), involuntary belching, and limb spasms. ... direct-to-consumer genetic testing? What is precision medicine? What is newborn screening? New Pages Depression GABA- ...

  4. Genetics Home Reference: guanidinoacetate methyltransferase deficiency

    Science.gov (United States)

    ... movements (extrapyramidal dysfunction) such as tremors or facial tics. People with guanidinoacetate methyltransferase deficiency may have weak ... direct-to-consumer genetic testing? What is precision medicine? What is newborn screening? New Pages Depression GABA- ...

  5. Genetics Home Reference: pseudohypoaldosteronism type 1

    Science.gov (United States)

    ... individuals may experience episodes of abnormal heartbeat (cardiac arrhythmia) or shock because of the imbalance of salts ... been estimated to affect 1 in 80,000 newborns. Related Information What information about a genetic condition ...

  6. Genetics Home Reference: Cantú syndrome

    Science.gov (United States)

    ... subunit) of a channel that transports charged potassium atoms (potassium ions) across cell membranes. Mutations in the ... direct-to-consumer genetic testing? What is precision medicine? What is newborn screening? New Pages Obstructive sleep ...

  7. Genetics Home Reference: erythrokeratodermia variabilis et progressiva

    Science.gov (United States)

    ... close to regulate the flow of nutrients, charged atoms (ions), and other signaling molecules from one cell ... direct-to-consumer genetic testing? What is precision medicine? What is newborn screening? New Pages Obstructive sleep ...

  8. Genetics Home Reference: central core disease

    Science.gov (United States)

    ... contractions are triggered by the flow of charged atoms (ions) into muscle cells. The ryanodine receptor 1 ... direct-to-consumer genetic testing? What is precision medicine? What is newborn screening? New Pages Obstructive sleep ...

  9. Genetics Home Reference: alternating hemiplegia of childhood

    Science.gov (United States)

    ... nerve cells (neurons). Na+/K+ ATPase transports charged atoms (ions) into and out of neurons, which is ... direct-to-consumer genetic testing? What is precision medicine? What is newborn screening? New Pages Obstructive sleep ...

  10. Genetics Home Reference: benign familial neonatal seizures

    Science.gov (United States)

    ... potassium channels. Potassium channels, which transport positively charged atoms (ions) of potassium into and out of cells, ... direct-to-consumer genetic testing? What is precision medicine? What is newborn screening? New Pages Obstructive sleep ...

  11. Genetics Home Reference: isolated sulfite oxidase deficiency

    Science.gov (United States)

    ... other molecules called sulfates by adding an oxygen atom (a process called oxidation). The SUOX gene mutations ... direct-to-consumer genetic testing? What is precision medicine? What is newborn screening? New Pages Obstructive sleep ...

  12. Genetics Home Reference: ankyrin-B syndrome

    Science.gov (United States)

    ... channels are complexes of proteins that transport charged atoms (ions) across cell membranes. In the heart, the ... direct-to-consumer genetic testing? What is precision medicine? What is newborn screening? New Pages Obstructive sleep ...

  13. Genetics Home Reference: tubular aggregate myopathy

    Science.gov (United States)

    ... in controlling the entry of positively charged calcium atoms (calcium ions) into cells. The STIM1 protein recognizes ... direct-to-consumer genetic testing? What is precision medicine? What is newborn screening? New Pages Obstructive sleep ...

  14. Genetics Home Reference: autosomal recessive congenital methemoglobinemia

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    ... cell types. Each hemoglobin molecule contains four iron atoms, which are needed to carry oxygen. In normal ... direct-to-consumer genetic testing? What is precision medicine? What is newborn screening? New Pages Obstructive sleep ...

  15. Genetics Home Reference: aldosterone-producing adenoma

    Science.gov (United States)

    ... roles in balancing the amounts of positively charged atoms (ions) of sodium (Na + ), potassium (K + ), and calcium ( ... direct-to-consumer genetic testing? What is precision medicine? What is newborn screening? New Pages Obstructive sleep ...

  16. Genetics Home Reference: UNC80 deficiency

    Science.gov (United States)

    ... complex (channelosome). Sodium channels transport positively charged sodium atoms (sodium ions) into cells and play a key ... direct-to-consumer genetic testing? What is precision medicine? What is newborn screening? New Pages Obstructive sleep ...

  17. Genetics Home Reference: isolated ectopia lentis

    Science.gov (United States)

    ... a common feature of genetic syndromes such as Marfan syndrome and Weill-Marchesani syndrome . Enlarge Frequency The prevalence ... 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus ...

  18. Genetics Home Reference: primary macronodular adrenal hyperplasia

    Science.gov (United States)

    ... Support and Research Foundation: Genetic Changes Found in Cushing's Disease, Adrenal Tumors, and Adrenal Hyperplasia MalaCards: acth-independent ... macronodular adrenal hyperplasia 2 Merck Manual (Home Edition): Cushing ... Adrenal Diseases Foundation: Cushing's Syndrome Orphanet: Cushing syndrome due to ...

  19. Genetics Home Reference: methylmalonic acidemia with homocystinuria

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    ... type cblD Screening, Technology, and Research in Genetics (STAR-G) Patient Support and Advocacy Resources (3 links) ... Institutes of Health National Library of Medicine Lister Hill National Center for Biomedical Communications 8600 Rockville Pike, ...

  20. Genetics Home Reference: juvenile Paget disease

    Science.gov (United States)

    ... J. A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype. Hum Mol Genet. ... PM, Jones JL, Podgornik MN, McAlister WH, Mumm S. Osteoprotegerin deficiency and juvenile Paget's disease. N Engl J ...

  1. Genetics Home Reference: dementia with Lewy bodies

    Science.gov (United States)

    ... dementia with Lewy bodies may also experience a sharp drop in blood pressure upon standing (orthostatic hypotension), ... Genetic Changes Mutations in the SNCA or SNCB gene cause dementia with Lewy bodies . GBA gene mutations ...

  2. Genetics Home Reference: spastic paraplegia type 15

    Science.gov (United States)

    ... eye called the macula , which is responsible for sharp central vision. Most people with spastic paraplegia type ... ethnic groups? Genetic Changes Mutations in the ZFYVE26 gene cause spastic paraplegia type 15 . This gene provides ...

  3. Genetics Home Reference: Bosma arhinia microphthalmia syndrome

    Science.gov (United States)

    ... literature. BAMS has been found in several different populations. Related Information What information about a genetic condition ... nasal development may affect gonadotropin-releasing hormone (GnRH) neurons, which are nerve cells that control the release ...

  4. Genetics Home Reference: Lesch-Nyhan syndrome

    Science.gov (United States)

    ... condition occurs with a similar frequency in all populations. Related Information What information about a genetic condition ... phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesis. Hum Mol ...

  5. Genetics Home Reference: PPM-X syndrome

    Science.gov (United States)

    ... who usually have only mild intellectual disability or learning disabilities. Related Information What does it mean if ... Bipolar Disorder Health Topic: Developmental Disabilities Health Topic: Movement Disorders Health Topic: Psychotic Disorders Genetic and Rare Diseases ...

  6. Genetics Home Reference: isolated Duane retraction syndrome

    Science.gov (United States)

    ... Encyclopedia: Extraocular Muscle Function Testing Health Topic: Eye Movement Disorders Genetic and Rare Diseases Information Center (1 link) Duane syndrome Additional NIH Resources (1 link) National Human Genome Research Institute: Learning About Duane Syndrome Educational Resources (9 links) American ...

  7. Genetics Home Reference: isolated growth hormone deficiency

    Science.gov (United States)

    ... cells that help protect the body against infection (agammaglobulinemia). Related Information What does it mean if a ... deficiency type 1B Genetic Testing Registry: X-linked agammaglobulinemia with growth hormone deficiency Other Diagnosis and Management ...

  8. Genetics Home Reference: dihydrolipoamide dehydrogenase deficiency

    Science.gov (United States)

    ... Lacaille F, de Keyzer Y, Di Martino V, de Lonlay P. Dihydrolipoamide dehydrogenase deficiency: a still overlooked cause of recurrent acute liver failure and Reye-like syndrome. Mol Genet Metab. 2013 May;109(1):28- ...

  9. Genetics Home Reference: Cornelia de Lange syndrome

    Science.gov (United States)

    ... excessive body hair (hypertrichosis), an unusually small head ( microcephaly ), hearing loss, and problems with the digestive tract. ... Information & Resources MedlinePlus (3 links) Encyclopedia: Autism Encyclopedia: Microcephaly Health Topic: Developmental Disabilities Genetic and Rare Diseases ...

  10. Genetics Home Reference: Meier-Gorlin syndrome

    Science.gov (United States)

    ... small ears, and, often, an abnormally small head ( microcephaly ). Despite a small head size, most people with ... named? Additional Information & Resources MedlinePlus (2 links) Encyclopedia: Microcephaly Health Topic: Dwarfism Genetic and Rare Diseases Information ...

  11. Genetics Home Reference: Holt-Oram syndrome

    Science.gov (United States)

    ... navigation Home Page Search Home Health Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Share: Email ... from the University of Kansas Medical Center: Limb Anomalies GeneReviews (1 link) Holt-Oram Syndrome Scientific Articles ...

  12. Genetics Home Reference: Klippel-Feil syndrome

    Science.gov (United States)

    ... navigation Home Page Search Home Health Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Share: Email ... Klimo P Jr, Rao G, Brockmeyer D. Congenital anomalies of the cervical spine. Neurosurg Clin N Am. ...

  13. Genetics Home Reference: enlarged parietal foramina

    Science.gov (United States)

    ... navigation Home Page Search Home Health Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Share: Email ... parietal foramina: association with cerebral venous and cortical anomalies. Neurology. 2000 Mar 14;54(5):1175-8. ...

  14. Genetics Home Reference: complement component 2 deficiency

    Science.gov (United States)

    ... Topic: Immune System and Disorders Health Topic: Lupus Genetic and Rare Diseases Information Center (1 link) Complement component 2 deficiency Additional NIH Resources (1 link) National Institute of Allergy and Infectious Diseases: Primary Immune Deficiency Diseases Educational Resources (6 ...

  15. Genetics Home Reference: IRAK-4 deficiency

    Science.gov (United States)

    ... Encyclopedia: Septicemia Health Topic: Immune System and Disorders Genetic and Rare Diseases Information Center (1 link) IRAK-4 deficiency Additional NIH Resources (1 link) National Institute of Allergy and Infectious Diseases: Primary Immune Deficiency Diseases Educational Resources (2 ...

  16. Genetics Home Reference: dystrophic epidermolysis bullosa

    Science.gov (United States)

    ... Squamous Cell Skin Cancer Health Topic: Skin Conditions Genetic and Rare Diseases Information Center (1 link) Dystrophic epidermolysis bullosa Additional NIH Resources (1 link) National Institute of Allergy and Infectious Diseases Educational Resources (4 links) MalaCards: dominant dystrophic ...

  17. Genetics Home Reference: common variable immune deficiency

    Science.gov (United States)

    ... Autoimmune Diseases Health Topic: Immune System and Disorders Genetic and Rare Diseases Information Center (1 link) Common variable immunodeficiency Additional NIH Resources (2 links) National Institute of Allergy and Infectious Diseases: Immune System National Institute of Allergy and ...

  18. Genetics Home Reference: Chediak-Higashi syndrome

    Science.gov (United States)

    ... Higashi syndrome Health Topic: Immune System and Disorders Genetic and Rare Diseases Information Center (1 link) Chediak-Higashi syndrome Additional NIH Resources (1 link) National Institute of Allergy and Infectious Diseases: Primary Immune Deficiency Diseases Educational Resources (4 ...

  19. Genetics Home Reference: Miller-Dieker syndrome

    Science.gov (United States)

    ... Support and Advocacy Resources (2 links) Brain Foundation (Australia) National Organization for Rare Disorders (NORD): Lissencephaly GeneReviews ( ... Pizzardi G, Del Balzo F, Iannetti P. Neuronal migration disorders: clinical, neuroradiologic and genetics aspects. Acta Paediatr. ...

  20. Genetics Home Reference: auriculo-condylar syndrome

    Science.gov (United States)

    ... Health Topic: Jaw Injuries and Disorders Health Topic: Temporomandibular Joint Dysfunction Genetic and Rare Diseases Information Center (1 link) Auriculo-condylar syndrome Educational Resources (6 links) American ... InfoSearch: Dysgnathia Complex MalaCards: auriculo-condylar ...

  1. Genetics Home Reference: tetrasomy 18p

    Science.gov (United States)

    ... The word "tetrasomy" is derived from "tetra," the Greek word for "four.") The extra genetic material from ... usually the mother. Most affected individuals have no history of the disorder in their family. However, rare ...

  2. Genetics Home Reference: nail-patella syndrome

    Science.gov (United States)

    ... people with this condition, the areas at the base of the nails (lunulae) are triangular instead of ... Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic ... Manual Professional Version Orphanet: Nail-patella syndrome Resource list ...

  3. Genetics Home Reference: hereditary multiple osteochondromas

    Science.gov (United States)

    ... sporadic cases with multiple exostoses. Genet Test Mol Biomarkers. 2010 Dec;14(6):865-72. doi: 10. ... precision medicine? What is newborn screening? New Pages Depression GABA-transaminase deficiency Pelizaeus-Merzbacher-like disease type ...

  4. Genetics Home Reference: dentatorubral-pallidoluysian atrophy

    Science.gov (United States)

    ... F, Adachi H, Sobue G. Molecular genetics and biomarkers of polyglutamine diseases. Curr Mol Med. 2008 May; ... precision medicine? What is newborn screening? New Pages Depression GABA-transaminase deficiency Pelizaeus-Merzbacher-like disease type ...

  5. Genetics Home Reference: benign chronic pemphigus

    Science.gov (United States)

    ... Other Diagnosis and Management Resources (1 link) American Osteopathic College of Dermatology General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and ...

  6. Genetics Home Reference: glutaric acidemia type I

    Science.gov (United States)

    ... Resources (3 links) Children Living with Inherited Metabolic Diseases (CLIMB) National ... JK, Frazier DM, Koeberl DD, Sullivan JA, Muenzer J. Glutaric acidemia type 1 in patients of Lumbee heritage from North Carolina. Mol Genet Metab. 2006 May; ...

  7. Genetics Home Reference: adenosine monophosphate deaminase deficiency

    Science.gov (United States)

    ... the condition is even less common in the Japanese population. Related Information What information about a genetic ... of Medicine Lister Hill National Center for Biomedical Communications 8600 Rockville Pike, Bethesda, MD 20894, USA HONCode ...

  8. Genetics Home Reference: Fukuyama congenital muscular dystrophy

    Science.gov (United States)

    ... incidence of 2 to 4 per 100,000 Japanese infants. Related Information What information about a genetic ... of Medicine Lister Hill National Center for Biomedical Communications 8600 Rockville Pike, Bethesda, MD 20894, USA HONCode ...

  9. Genetics Home Reference: fibrodysplasia ossificans progressiva

    Science.gov (United States)

    ... 617G>A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva. J Hum Genet. ... of Medicine Lister Hill National Center for Biomedical Communications 8600 Rockville Pike, Bethesda, MD 20894, USA HONCode ...

  10. Genetics Home Reference: fragile X syndrome

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions Fragile X syndrome Fragile X syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Fragile X syndrome is a genetic condition that causes a ...

  11. Genetics Home Reference: Aarskog-Scott syndrome

    Science.gov (United States)

    ... Twitter Home Health Conditions Aarskog-Scott syndrome Aarskog-Scott syndrome Printable PDF Open All Close All Enable ... to view the expand/collapse boxes. Description Aarskog-Scott syndrome is a genetic disorder that affects the ...

  12. Genetics Home Reference: MDA5 deficiency

    Science.gov (United States)

    ... In particular, the protein recognizes a molecule called double-stranded RNA (a chemical cousin of DNA), which certain viruses, including rhinovirus, RSV, and the flu virus, have as their genetic material or produce when ...

  13. Genetics Home Reference: familial hemiplegic migraine

    Science.gov (United States)

    ... Plomp JJ, Frants RR, van den Maagdenberg AM, Ferrari MD. Genetic models of migraine. Arch Neurol. 2007 ... van den Maagdenberg AM, Haan J, Terwindt GM, Ferrari MD. Migraine: gene mutations and functional consequences. Curr ...

  14. Genetics Home Reference: DICER1 syndrome

    Science.gov (United States)

    ... Encyclopedia: Sertoli-Leydig Cell Tumor Health Topic: Cancer Genetic and Rare Diseases Information Center (1 link) DICER1-related pleuropulmonary blastoma cancer predisposition syndrome Additional NIH Resources (1 link) National Cancer ...

  15. A RAD-Based Genetic Map for Anchoring Scaffold Sequences and Identifying QTLs in Bitter Gourd (Momordica charantia

    Directory of Open Access Journals (Sweden)

    Junjie Cui

    2018-04-01

    Full Text Available Genetic mapping is a basic tool necessary for anchoring assembled scaffold sequences and for identifying QTLs controlling important traits. Though bitter gourd (Momordica charantia is both consumed and used as a medicinal, research on its genomics and genetic mapping is severely limited. Here, we report the construction of a restriction site associated DNA (RAD-based genetic map for bitter gourd using an F2 mapping population comprising 423 individuals derived from two cultivated inbred lines, the gynoecious line ‘K44’ and the monoecious line ‘Dali-11.’ This map comprised 1,009 SNP markers and spanned a total genetic distance of 2,203.95 cM across the 11 linkage groups. It anchored a total of 113 assembled scaffolds that covered about 251.32 Mb (85.48% of the 294.01 Mb assembled genome. In addition, three horticulturally important traits including sex expression, fruit epidermal structure, and immature fruit color were evaluated using a combination of qualitative and quantitative data. As a result, we identified three QTL/gene loci responsible for these traits in three environments. The QTL/gene gy/fffn/ffn, controlling sex expression involved in gynoecy, first female flower node, and female flower number was detected in the reported region. Particularly, two QTLs/genes, Fwa/Wr and w, were found to be responsible for fruit epidermal structure and white immature fruit color, respectively. This RAD-based genetic map promotes the assembly of the bitter gourd genome and the identified genetic loci will accelerate the cloning of relevant genes in the future.

  16. Genetics Home Reference: tetra-amelia syndrome

    Science.gov (United States)

    ... absence of all four limbs. ("Tetra" is the Greek word for "four," and "amelia" refers to the ... PubMed Central Ohdo S, Sonoda T, Ohba K. Natural history and postmortem anatomy of a patient with tetra- ...

  17. Genetics Home Reference: juvenile idiopathic arthritis

    Science.gov (United States)

    ... Home Health Conditions Juvenile idiopathic arthritis Juvenile idiopathic arthritis Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Juvenile idiopathic arthritis refers to a group of conditions involving joint ...

  18. Genetics Home Reference: triple X syndrome

    Science.gov (United States)

    ... in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of the X ... nondisjunction. If one of these atypical reproductive cells contributes to the genetic makeup of a ...

  19. Genetics Home Reference: 3-M syndrome

    Science.gov (United States)

    ... ubiquitin-proteasome system acts as the cell's quality control system by disposing of damaged, misshapen, and excess proteins. This ... of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia. J Med Genet. 2007 Dec;44(12):772- ...

  20. Genetics Home Reference: HSD10 disease

    Science.gov (United States)

    ... on PubMed Central Vilardo E, Rossmanith W. Molecular insights into HSD10 disease: impact of SDR5C1 mutations on ... editing and CRISPR-Cas9? What is direct-to-consumer genetic testing? What is precision medicine? What is ...

  1. Genetics Home Reference: 5-alpha reductase deficiency

    Science.gov (United States)

    ... affects male sexual development before birth and during puberty. People with this condition are genetically male, with one X and one Y chromosome in ... on the underside of the penis (hypospadias). During puberty, an increase in the levels of male sex hormones leads to the development of some ...

  2. A global reference for human genetic variation

    DEFF Research Database (Denmark)

    Auton, Adam; Abecasis, Goncalo R.; M. Altshuler, David

    2015-01-01

    insertions/deletions (indels), and 60,000 structural variants), all phased onto high-quality haplotypes. This resource includes >99% of SNP variants with a frequency of >1% for a variety of ancestries. We describe the distribution of genetic variation across the global sample, and discuss the implications...

  3. Genetics Home Reference: hypokalemic periodic paralysis

    Science.gov (United States)

    ... particular ethnic groups? Genetic Changes Mutations in the CACNA1S or SCN4A gene can cause hypokalemic periodic paralysis . ... positively charged atoms (ions) into muscle cells. The CACNA1S and SCN4A proteins form channels that control the ...

  4. Genetics Home Reference: arterial tortuosity syndrome

    Science.gov (United States)

    ... Barrow M, Dekens R, Loeys BL, Coucke PJ, De Paepe AM. Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified ... R, Dietz HC, Barlati S, Colombi M, Loeys B, De Paepe A. Mutations in the ... and cause arterial tortuosity syndrome. Nat Genet. 2006 Apr;38(4):452-7. ...

  5. A global reference for human genetic variation

    DEFF Research Database (Denmark)

    Auton, Adam; Abecasis, Goncalo R.; M. Altshuler, David

    2015-01-01

    The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations. Here we report completion of the project, having reconstructed the genomes of 2,504 individuals ...

  6. Genetics Home Reference: rhizomelic chondrodysplasia punctata

    Science.gov (United States)

    ... 1: report of mutations in 3 children from India. J Appl Genet. 2010;51(1):107-10. doi: 10.1007/BF03195717. Citation on PubMed Steinberg SJ, Dodt G, Raymond GV, Braverman NE, Moser AB, Moser HW. Peroxisome biogenesis disorders. Biochim ...

  7. Genetics Home Reference: PMM2-congenital disorder of glycosylation

    Science.gov (United States)

    ... H, Brice A, Seta N, Héron D. 29 French adult patients with PMM2-congenital disorder of glycosylation: ... or Free article on PubMed Central More from Genetics Home Reference Bulletins March is Trisomy Awareness Month ...

  8. Genetics Home Reference: Stüve-Wiedemann syndrome

    Science.gov (United States)

    ... smooth tongue that lacks the bumps that house taste buds (fungiform papillae). Affected children may also lose ... or Free article on PubMed Central More from Genetics Home Reference Bulletins March is Trisomy Awareness Month ...

  9. Construction of reference chromosome-scale pseudomolecules for potato: integrating the potato genome with genetic and physical maps.

    Science.gov (United States)

    Sharma, Sanjeev Kumar; Bolser, Daniel; de Boer, Jan; Sønderkær, Mads; Amoros, Walter; Carboni, Martin Federico; D'Ambrosio, Juan Martín; de la Cruz, German; Di Genova, Alex; Douches, David S; Eguiluz, Maria; Guo, Xiao; Guzman, Frank; Hackett, Christine A; Hamilton, John P; Li, Guangcun; Li, Ying; Lozano, Roberto; Maass, Alejandro; Marshall, David; Martinez, Diana; McLean, Karen; Mejía, Nilo; Milne, Linda; Munive, Susan; Nagy, Istvan; Ponce, Olga; Ramirez, Manuel; Simon, Reinhard; Thomson, Susan J; Torres, Yerisf; Waugh, Robbie; Zhang, Zhonghua; Huang, Sanwen; Visser, Richard G F; Bachem, Christian W B; Sagredo, Boris; Feingold, Sergio E; Orjeda, Gisella; Veilleux, Richard E; Bonierbale, Merideth; Jacobs, Jeanne M E; Milbourne, Dan; Martin, David Michael Alan; Bryan, Glenn J

    2013-11-06

    The genome of potato, a major global food crop, was recently sequenced. The work presented here details the integration of the potato reference genome (DM) with a new sequence-tagged site marker-based linkage map and other physical and genetic maps of potato and the closely related species tomato. Primary anchoring of the DM genome assembly was accomplished by the use of a diploid segregating population, which was genotyped with several types of molecular genetic markers to construct a new ~936 cM linkage map comprising 2469 marker loci. In silico anchoring approaches used genetic and physical maps from the diploid potato genotype RH89-039-16 (RH) and tomato. This combined approach has allowed 951 superscaffolds to be ordered into pseudomolecules corresponding to the 12 potato chromosomes. These pseudomolecules represent 674 Mb (~93%) of the 723 Mb genome assembly and 37,482 (~96%) of the 39,031 predicted genes. The superscaffold order and orientation within the pseudomolecules are closely collinear with independently constructed high density linkage maps. Comparisons between marker distribution and physical location reveal regions of greater and lesser recombination, as well as regions exhibiting significant segregation distortion. The work presented here has led to a greatly improved ordering of the potato reference genome superscaffolds into chromosomal "pseudomolecules".

  10. A High Resolution Genetic Map Anchoring Scaffolds of the Sequenced Watermelon Genome

    Science.gov (United States)

    Kou, Qinghe; Jiang, Jiao; Guo, Shaogui; Zhang, Haiying; Hou, Wenju; Zou, Xiaohua; Sun, Honghe; Gong, Guoyi; Levi, Amnon; Xu, Yong

    2012-01-01

    As part of our ongoing efforts to sequence and map the watermelon (Citrullus spp.) genome, we have constructed a high density genetic linkage map. The map positioned 234 watermelon genome sequence scaffolds (an average size of 1.41 Mb) that cover about 330 Mb and account for 93.5% of the 353 Mb of the assembled genomic sequences of the elite Chinese watermelon line 97103 (Citrullus lanatus var. lanatus). The genetic map was constructed using an F8 population of 103 recombinant inbred lines (RILs). The RILs are derived from a cross between the line 97103 and the United States Plant Introduction (PI) 296341-FR (C. lanatus var. citroides) that contains resistance to fusarium wilt (races 0, 1, and 2). The genetic map consists of eleven linkage groups that include 698 simple sequence repeat (SSR), 219 insertion-deletion (InDel) and 36 structure variation (SV) markers and spans ∼800 cM with a mean marker interval of 0.8 cM. Using fluorescent in situ hybridization (FISH) with 11 BACs that produced chromosome-specifc signals, we have depicted watermelon chromosomes that correspond to the eleven linkage groups constructed in this study. The high resolution genetic map developed here should be a useful platform for the assembly of the watermelon genome, for the development of sequence-based markers used in breeding programs, and for the identification of genes associated with important agricultural traits. PMID:22247776

  11. Genetic analysis of glucosinolate variability in broccoli florets using genome-anchored single nucleotide polymorphisms.

    Science.gov (United States)

    Brown, Allan F; Yousef, Gad G; Reid, Robert W; Chebrolu, Kranthi K; Thomas, Aswathy; Krueger, Christopher; Jeffery, Elizabeth; Jackson, Eric; Juvik, John A

    2015-07-01

    The identification of genetic factors influencing the accumulation of individual glucosinolates in broccoli florets provides novel insight into the regulation of glucosinolate levels in Brassica vegetables and will accelerate the development of vegetables with glucosinolate profiles tailored to promote human health. Quantitative trait loci analysis of glucosinolate (GSL) variability was conducted with a B. oleracea (broccoli) mapping population, saturated with single nucleotide polymorphism markers from a high-density array designed for rapeseed (Brassica napus). In 4 years of analysis, 14 QTLs were associated with the accumulation of aliphatic, indolic, or aromatic GSLs in floret tissue. The accumulation of 3-carbon aliphatic GSLs (2-propenyl and 3-methylsulfinylpropyl) was primarily associated with a single QTL on C05, but common regulation of 4-carbon aliphatic GSLs was not observed. A single locus on C09, associated with up to 40 % of the phenotypic variability of 2-hydroxy-3-butenyl GSL over multiple years, was not associated with the variability of precursor compounds. Similarly, QTLs on C02, C04, and C09 were associated with 4-methylsulfinylbutyl GSL concentration over multiple years but were not significantly associated with downstream compounds. Genome-specific SNP markers were used to identify candidate genes that co-localized to marker intervals and previously sequenced Brassica oleracea BAC clones containing known GSL genes (GSL-ALK, GSL-PRO, and GSL-ELONG) were aligned to the genomic sequence, providing support that at least three of our 14 QTLs likely correspond to previously identified GSL loci. The results demonstrate that previously identified loci do not fully explain GSL variation in broccoli. The identification of additional genetic factors influencing the accumulation of GSL in broccoli florets provides novel insight into the regulation of GSL levels in Brassicaceae and will accelerate development of vegetables with modified or enhanced GSL

  12. Using the Genetics Home Reference Website | NIH MedlinePlus the Magazine

    Science.gov (United States)

    ... of this page please turn Javascript on. Feature: Genetics 101 Using the Genetics Home Reference Website Past Issues / Summer 2013 Table ... as the GHR website keeps growing. What Is Genetic Counseling? Genetic counseling provides information and support to ...

  13. Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes

    DEFF Research Database (Denmark)

    Wirth, J; Nothwang, H G; van der Maarel, S

    1999-01-01

    Disease associated balanced chromosome rearrangements (DBCRs) have been instrumental in the isolation of many disease genes. To facilitate the molecular cytogenetic characterisation of DBCRs, we have generated a set of >1200 non-chimeric, cytogenetically and genetically anchored CEPH YACs...... the Mendelian Cytogenetics Network (MCN), a collaborative effort of, at present, 270 cytogenetic laboratories throughout the world. In this pilot study, we have characterised 10 different MR associated chromosome regions delineating candidate regions for MR. Five of these regions are narrowed to breakpoint...

  14. A dense single-nucleotide polymorphism-based genetic linkage map of grapevine (Vitis vinifera L.) anchoring Pinot Noir bacterial artificial chromosome contigs.

    Science.gov (United States)

    Troggio, Michela; Malacarne, Giulia; Coppola, Giuseppina; Segala, Cinzia; Cartwright, Dustin A; Pindo, Massimo; Stefanini, Marco; Mank, Rolf; Moroldo, Marco; Morgante, Michele; Grando, M Stella; Velasco, Riccardo

    2007-08-01

    The construction of a dense genetic map for Vitis vinifera and its anchoring to a BAC-based physical map is described: it includes 994 loci mapped onto 19 linkage groups, corresponding to the basic chromosome number of Vitis. Spanning 1245 cM with an average distance of 1.3 cM between adjacent markers, the map was generated from the segregation of 483 single-nucleotide polymorphism (SNP)-based genetic markers, 132 simple sequence repeats (SSRs), and 379 AFLP markers in a mapping population of 94 F(1) individuals derived from a V. vinifera cross of the cultivars Syrah and Pinot Noir. Of these markers, 623 were anchored to 367 contigs that are included in a physical map produced from the same clone of Pinot Noir and covering 352 Mbp. On the basis of contigs containing two or more genetically mapped markers, region-dependent estimations of physical and recombinational distances are presented. The markers used in this study include 118 SSRs common to an integrated map derived from five segregating populations of V. vinifera. The positions of these SSR markers in the two maps are conserved across all Vitis linkage groups. The addition of SNP-based markers introduces polymorphisms that are easy to database, are useful for evolutionary studies, and significantly increase the density of the map. The map provides the most comprehensive view of the Vitis genome reported to date and will be relevant for future studies on structural and functional genomics and genetic improvement.

  15. A high-density genetic map for anchoring genome sequences and identifying QTLs associated with dwarf vine in pumpkin (Cucurbita maxima Duch.).

    Science.gov (United States)

    Zhang, Guoyu; Ren, Yi; Sun, Honghe; Guo, Shaogui; Zhang, Fan; Zhang, Jie; Zhang, Haiying; Jia, Zhangcai; Fei, Zhangjun; Xu, Yong; Li, Haizhen

    2015-12-24

    Pumpkin (Cucurbita maxima Duch.) is an economically important crop belonging to the Cucurbitaceae family. However, very few genomic and genetic resources are available for this species. As part of our ongoing efforts to sequence the pumpkin genome, high-density genetic map is essential for anchoring and orienting the assembled scaffolds. In addition, a saturated genetic map can facilitate quantitative trait locus (QTL) mapping. A set of 186 F2 plants derived from the cross of pumpkin inbred lines Rimu and SQ026 were genotyped using the genotyping-by-sequencing approach. Using the SNPs we identified, a high-density genetic map containing 458 bin-markers was constructed, spanning a total genetic distance of 2,566.8 cM across the 20 linkage groups of C. maxima with a mean marker density of 5.60 cM. Using this map we were able to anchor 58 assembled scaffolds that covered about 194.5 Mb (71.7%) of the 271.4 Mb assembled pumpkin genome, of which 44 (183.0 Mb; 67.4%) were oriented. Furthermore, the high-density genetic map was used to identify genomic regions highly associated with an important agronomic trait, dwarf vine. Three QTLs on linkage groups (LGs) 1, 3 and 4, respectively, were recovered. One QTL, qCmB2, which was located in an interval of 0.42 Mb on LG 3, explained 21.4% phenotypic variations. Within qCmB2, one gene, Cma_004516, encoding the gibberellin (GA) 20-oxidase in the GA biosynthesis pathway, had a 1249-bp deletion in its promoter in bush type lines, and its expression level was significantly increased during the vine growth and higher in vine type lines than bush type lines, supporting Cma_004516 as a possible candidate gene controlling vine growth in pumpkin. A high-density pumpkin genetic map was constructed, which was used to successfully anchor and orient the assembled genome scaffolds, and to identify QTLs highly associated with pumpkin vine length. The map provided a valuable resource for gene cloning and marker assisted breeding in pumpkin and

  16. Anchor Modeling

    Science.gov (United States)

    Regardt, Olle; Rönnbäck, Lars; Bergholtz, Maria; Johannesson, Paul; Wohed, Petia

    Maintaining and evolving data warehouses is a complex, error prone, and time consuming activity. The main reason for this state of affairs is that the environment of a data warehouse is in constant change, while the warehouse itself needs to provide a stable and consistent interface to information spanning extended periods of time. In this paper, we propose a modeling technique for data warehousing, called anchor modeling, that offers non-destructive extensibility mechanisms, thereby enabling robust and flexible management of changes in source systems. A key benefit of anchor modeling is that changes in a data warehouse environment only require extensions, not modifications, to the data warehouse. This ensures that existing data warehouse applications will remain unaffected by the evolution of the data warehouse, i.e. existing views and functions will not have to be modified as a result of changes in the warehouse model.

  17. Genetics Home Reference: GM2-gangliosidosis, AB variant

    Science.gov (United States)

    ... can be inherited? More about Inheriting Genetic Conditions Diagnosis & Management Resources Genetic Testing (1 link) Genetic Testing Registry: Tay-Sachs disease, variant AB General Information from MedlinePlus (5 ...

  18. Genetics Home Reference: combined malonic and methylmalonic aciduria

    Science.gov (United States)

    ... links) Health Topic: Genetic Brain Disorders Health Topic: Lipid Metabolism Disorders Genetic and Rare Diseases Information Center (1 link) Combined malonic and methylmalonic aciduria Additional NIH Resources (1 link) National Human Genome Research Institute: NHGRI Researchers Serve Up Mysterious ...

  19. Genetics Home Reference: ZAP70-related severe combined immunodeficiency

    Science.gov (United States)

    ... gene is also involved in the activation of helper T cells (CD4+ T cells). These cells direct ... genetic testing? How can I find a genetics professional in my area? Other Names for This Condition ...

  20. Genetics Home Reference: biotin-thiamine-responsive basal ganglia disease

    Science.gov (United States)

    ... eye muscles (external ophthalmoplegia), difficulty chewing or swallowing (dysphagia), and slurred speech. Affected individuals may also experience ... Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are genetic conditions diagnosed? How ...

  1. Genetics Home Reference: mitochondrial membrane protein-associated neurodegeneration

    Science.gov (United States)

    ... impair vision; problems with speech (dysarthria); difficulty swallowing (dysphagia); and, in later stages of the condition, an ... Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are genetic conditions diagnosed? How ...

  2. Genetics Home Reference: activated PI3K-delta syndrome

    Science.gov (United States)

    ... Conditions Diagnosis & Management Resources Genetic Testing (1 link) Genetic Testing Registry: Immunodeficiency 14 Other Diagnosis and Management Resources (1 link) National Institute of Allergy and Infectious Diseases: Primary Immune Deficiency Diseases: Talking to Your Doctor ...

  3. Genetics Home Reference: frontotemporal dementia with parkinsonism-17

    Science.gov (United States)

    ... Practice Guideline for the Treatment of Patients with Alzheimer's Disease and Other Dementias (PDF) Genetic Testing (1 link) Genetic Testing Registry: Frontotemporal dementia Other Diagnosis and Management Resources (1 link) GeneReview: MAPT-Related ...

  4. Genetics Home Reference: early-onset primary dystonia

    Science.gov (United States)

    ... prognosis of a genetic condition? Genetic and Rare Diseases Information Center ... most frequently in people of Ashkenazi (central and eastern European) Jewish heritage, affecting 1 in 3,000 to 9,000 ...

  5. Genetics Home Reference: Björnstad syndrome

    Science.gov (United States)

    ... prevalence is unknown. It has been found in populations worldwide. Related Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common in particular ethnic groups? Genetic Changes Björnstad syndrome is caused by mutations in the ...

  6. Allium genetic resources with particular reference to onion

    NARCIS (Netherlands)

    Kik, C.

    2008-01-01

    As in many other crop species, also in Allium crops genetic erosion is taking place. In this mini review the current global state of the art is presented on Allium ex situ genetic resources and more in particular on onion genetic resources. Furthermore future possible actions are indicated to

  7. Genetics Home Reference: acute necrotizing encephalopathy type 1

    Science.gov (United States)

    ... induced acute encephalopathy 3 Related Information How are genetic conditions and genes named? ... National Institute of Allergy and Infectious Diseases: Flu (Influenza) National Institute of Neurological Disorders ...

  8. Genetics Home Reference: JAK3-deficient severe combined immunodeficiency

    Science.gov (United States)

    ... T cell-negative, B cell-positive, NK cell-negative SCID Related Information How are genetic conditions and genes named? Additional Information & Resources MedlinePlus (2 links) Encyclopedia: Immunodeficiency disorders Health Topic: Immune System and Disorders Genetic and Rare Diseases ...

  9. Genetics Home Reference: Sjögren syndrome

    Science.gov (United States)

    ... syndrome in particular. The inheritance pattern of this predisposition is unknown. Related Information What does it mean if a disorder seems to run in my family? What are the different ways in which a genetic condition can be inherited? More about Inheriting Genetic ...

  10. Genetics Home Reference: glucose-6-phosphate dehydrogenase deficiency

    Science.gov (United States)

    ... deficiency Encyclopedia: Glucose-6-phosphate dehydrogenase test Encyclopedia: Hemolytic anemia Encyclopedia: Newborn jaundice Health Topic: Anemia Health Topic: G6PD Deficiency Health Topic: Newborn Screening Genetic and Rare Diseases Information Center (1 link) Glucose-6-phosphate dehydrogenase ...

  11. Genetics Home Reference: carbamoyl phosphate synthetase I deficiency

    Science.gov (United States)

    ... hyperammonemia, type I Genetics Education Materials for School Success (GEMSS) Orphanet: Carbamoyl-phosphate synthetase 1 deficiency Patient ... for Links Data Files & API Site Map Subscribe Customer Support USA.gov Copyright Privacy Accessibility FOIA Viewers & ...

  12. Genetics Home Reference: McLeod neuroacanthocytosis syndrome

    Science.gov (United States)

    ... and throat, which can cause grimacing and vocal tics (such as grunting and clicking noises). Dystonia of ... direct-to-consumer genetic testing? What is precision medicine? What is newborn screening? New Pages Depression GABA- ...

  13. Genetics Home Reference: dilated cardiomyopathy with ataxia syndrome

    Science.gov (United States)

    ... usual to recharge between beats . The irregular heartbeats (arrhythmia) can lead to fainting (syncope) or cardiac arrest ... Topic: Cardiomyopathy Health Topic: Movement Disorders Health Topic: Newborn Screening Genetic and Rare Diseases Information Center (1 ...

  14. Genetics Home Reference: Emery-Dreifuss muscular dystrophy

    Science.gov (United States)

    ... features of this disorder are joint deformities called contractures. Contractures restrict the movement of certain joints, most often ... how genetic changes can lead to the joint contractures, muscle weakness, and heart abnormalities characteristic of Emery- ...

  15. Genetics Home Reference: D-bifunctional protein deficiency

    Science.gov (United States)

    ... shortens the fatty acid molecules by two carbon atoms at a time until the fatty acids are ... direct-to-consumer genetic testing? What is precision medicine? What is newborn screening? New Pages Obstructive sleep ...

  16. Genetics Home Reference: Wolff-Parkinson-White syndrome

    Science.gov (United States)

    ... the heart. These channels, which transport positively charged atoms (ions) into and out of cardiac muscle cells, ... direct-to-consumer genetic testing? What is precision medicine? What is newborn screening? New Pages Obstructive sleep ...

  17. Genetics Home Reference: fatty acid hydroxylase-associated neurodegeneration

    Science.gov (United States)

    ... fatty acid 2-hydroxylase adds a single oxygen atom to a hydrogen atom at a particular point on a fatty acid ... direct-to-consumer genetic testing? What is precision medicine? What is newborn screening? New Pages Obstructive sleep ...

  18. Genetics Home Reference: DNMT3A overgrowth syndrome

    Science.gov (United States)

    ... addition of methyl groups, consisting of one carbon atom and three hydrogen atoms, to DNA molecules. DNA methylation is important in ... direct-to-consumer genetic testing? What is precision medicine? What is newborn screening? New Pages Obstructive sleep ...

  19. Genetics Home Reference: autosomal recessive cerebellar ataxia type 1

    Science.gov (United States)

    ... Canada, but it has since been found in populations worldwide. Related Information What information about a genetic ... are involved in chemical signaling between nerve cells ( neurons ). SYNE1 gene mutations that cause ARCA1 result in ...

  20. Genetics Home Reference: X-linked dystonia-parkinsonism

    Science.gov (United States)

    ... putamen. These regions are critical for normal movement, learning, and memory. It is unclear why the effects ... Uncontrolled or Slow Health Topic: Dystonia Health Topic: Movement Disorders Genetic and Rare Diseases Information Center (1 link) ...

  1. Genetics Home Reference: REN-related kidney disease

    Science.gov (United States)

    ... Health Conditions REN-related kidney disease REN-related kidney disease Printable PDF Open All Close All Enable Javascript ... is direct-to-consumer genetic testing? What is precision medicine? What is newborn screening? New Pages Pelizaeus-Merzbacher- ...

  2. Genetics Home Reference: uromodulin-associated kidney disease

    Science.gov (United States)

    ... Health Conditions Uromodulin-associated kidney disease Uromodulin-associated kidney disease Printable PDF Open All Close All Enable Javascript ... is direct-to-consumer genetic testing? What is precision medicine? What is newborn screening? New Pages Pelizaeus-Merzbacher- ...

  3. Genetics Home Reference: medullary cystic kidney disease type 1

    Science.gov (United States)

    ... Medullary cystic kidney disease type 1 Medullary cystic kidney disease type 1 Printable PDF Open All Close All ... is direct-to-consumer genetic testing? What is precision medicine? What is newborn screening? New Pages Pelizaeus-Merzbacher- ...

  4. Genetics Home Reference: 3q29 microduplication syndrome

    Science.gov (United States)

    ... abnormalities, heart defects, and an unusually small head ( microcephaly ) can occur. 3q29 microduplication syndrome may increase the ... named? Additional Information & Resources MedlinePlus (3 links) Encyclopedia: Microcephaly Encyclopedia: Obesity Health Topic: Developmental Disabilities Genetic and ...

  5. Genetics Home Reference: Schimke immuno-osseous dysplasia

    Science.gov (United States)

    ... Immune System and Disorders Health Topic: Kidney Failure Genetic and Rare Diseases Information Center (1 link) Schimke immunoosseous dysplasia Additional NIH Resources (2 links) National Institute of Allergy and Infectious Diseases: Disorders of the Immune System National Institute ...

  6. Genetics Home Reference: bare lymphocyte syndrome type II

    Science.gov (United States)

    ... Immunodeficiency Disorders Health Topic: Immune System and Disorders Genetic and Rare Diseases Information Center (1 link) Bare lymphocyte syndrome 2 Additional NIH Resources (1 link) National Institute of Allergy and Infectious Diseases: Primary Immune Deficiency Diseases Educational Resources (6 ...

  7. Genetics Home Reference: MyD88 deficiency

    Science.gov (United States)

    ... Encyclopedia: Septicemia Health Topic: Immune System and Disorders Genetic and Rare Diseases Information Center (1 link) MYD88 deficiency Additional NIH Resources (1 link) National Institute of Allergy and Infectious Diseases Educational Resources (3 links) KidsHealth: Immune System ...

  8. Genetics Home Reference: X-linked severe combined immunodeficiency

    Science.gov (United States)

    ... Severe Combined Immunodeficiency National Institute of Allergy and Infectious Diseases: Primary Immune Deficiency Diseases Educational Resources (6 links) Boston Children's Hospital Genetic Science Learning Center, University of Utah Great Ormond ...

  9. Genetics Home Reference: nonsyndromic congenital nail disorder 10

    Science.gov (United States)

    ... Other Diagnosis and Management Resources (1 link) American Osteopathic College of Dermatology: Onycholysis General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and ...

  10. Genetics Home Reference: mucolipidosis III alpha/beta

    Science.gov (United States)

    ... and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation. J Hum Genet. ... of Medicine Lister Hill National Center for Biomedical Communications 8600 Rockville Pike, Bethesda, MD 20894, USA HONCode ...

  11. Genetics Home Reference: Legg-Calvé-Perthes disease

    Science.gov (United States)

    ... gene causes Legg-Calvé-Perthes disease in a Japanese family. Hum Genet. 2007 Jun;121(5):625- ... of Medicine Lister Hill National Center for Biomedical Communications 8600 Rockville Pike, Bethesda, MD 20894, USA HONCode ...

  12. Genetics Home Reference: age-related hearing loss

    Science.gov (United States)

    ... Description Age-related hearing loss (also known as presbycusis) is a decrease in hearing ability that happens ... age-related old-aged sensorineural hearing impairment presbyacusia presbycusis Related Information How are genetic conditions and genes ...

  13. Genetics Home Reference: renal tubular acidosis with deafness

    Science.gov (United States)

    ... Disorders and Deafness Health Topic: Hearing Problems in Children Health Topic: Kidney Diseases Genetic and Rare Diseases Information Center (1 link) Renal tubular acidosis with deafness Additional NIH Resources (2 ...

  14. Genetics Home Reference: malignant migrating partial seizures of infancy

    Science.gov (United States)

    ... Testing (1 link) Genetic Testing Registry: Early infantile epileptic encephalopathy 14 Other Diagnosis and Management Resources (1 link) ... area? Other Names for This Condition early infantile epileptic encephalopathy 14 EIEE14 malignant migrating partial epilepsy of infancy ...

  15. Genetics Home Reference: glycogen storage disease type VI

    Science.gov (United States)

    ... Shin YS, Kilimann MW. Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI. Am J Hum Genet. 1998 Apr;62(4):785-91. Citation on PubMed or Free article on PubMed Central Chang S, Rosenberg MJ, Morton ...

  16. Genetics Home Reference: familial idiopathic basal ganglia calcification

    Science.gov (United States)

    ... O, Defebvre L, Krystkowiak P, Pariente J, Clanet M, Labauge P, Ayrignac X, Lefaucheur R, Le Ber I, Frébourg T, Hannequin D, Campion D. Mutation of ... DB, Stoessl AJ, Hutton M, Manyam BV, Boller F, Baquero M, Geschwind DH. Genetic heterogeneity in ... M, Saiki S, Sakai K, Matsunari I, Higashi K, Murata KY, Hattori N, Hirose G. ...

  17. Genetics Home Reference: 1q21.1 microdeletion

    Science.gov (United States)

    ... reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet. 2008 Dec;40(12):1466-71. doi: 10.1038/ng.279. Citation on PubMed or Free article on PubMed Central Haldeman-Englert CR, Jewett T. ...

  18. Genetics Home Reference: 1q21.1 microduplication

    Science.gov (United States)

    ... reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet. 2008 Dec;40(12):1466-71. doi: 10.1038/ng.279. Citation on PubMed or Free article on PubMed Central Dolcetti A, Silversides CK, Marshall ...

  19. Genetics Home Reference: autosomal recessive hyper-IgE syndrome

    Science.gov (United States)

    ... Diseases Health Topic: Pneumonia Health Topic: Skin Infections Genetic and Rare Diseases Information Center (1 link) Autosomal recessive hyper IgE syndrome Additional NIH Resources (2 links) National Institute of Allergy and Infectious Diseases: DOCK8 Deficiency National Institute of Allergy and ...

  20. Genetics Home Reference: 46,XX testicular disorder of sex development

    Science.gov (United States)

    ... area? Other Names for This Condition 46,XX sex reversal XX male syndrome XX sex reversal Related Information How are genetic conditions and genes ... 1 link) PubMed OMIM (1 link) 46,XX SEX REVERSAL 1 MedGen (1 link) 46,XX testicular disorder ...

  1. Genetics Home Reference: hereditary sensory neuropathy type IA

    Science.gov (United States)

    ... Houlden H, King R, Blake J, Groves M, Love S, Woodward C, Hammans S, Nicoll J, Lennox G, O'Donovan DG, Gabriel C, Thomas PK, Reilly MM. Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I). Brain. 2006 Feb;129(Pt 2):411-25. Epub ...

  2. Ovine Reference Materials and Assays for Prion Genetic Testing

    Science.gov (United States)

    Background: Genetic predisposition to scrapie in sheep is associated with variation in the peptide sequence of the ovine prion protein encoded by Prnp. Codon variants implicated in scrapie susceptibility or disease progression include those at amino acid positions 112, 136, 141, 154, and 171. Nin...

  3. A sugar beet (Beta vulgaris L.) reference FISH karyotype for chromosome and chromosome-arm identification, integration of genetic linkage groups and analysis of major repeat family distribution.

    Science.gov (United States)

    Paesold, Susanne; Borchardt, Dietrich; Schmidt, Thomas; Dechyeva, Daryna

    2012-11-01

    We developed a reference karyotype for B. vulgaris which is applicable to all beet cultivars and provides a consistent numbering of chromosomes and genetic linkage groups. Linkage groups of sugar beet were assigned to physical chromosome arms by FISH (fluorescent in situ hybridization) using a set of 18 genetically anchored BAC (bacterial artificial chromosome) markers. Genetic maps of sugar beet were correlated to chromosome arms, and North-South orientation of linkage groups was established. The FISH karyotype provides a technical platform for genome studies and can be applied for numbering and identification of chromosomes in related wild beet species. The discrimination of all nine chromosomes by BAC probes enabled the study of chromosome-specific distribution of the major repetitive components of sugar beet genome comprising pericentromeric, intercalary and subtelomeric satellites and 18S-5.8S-25S and 5S rRNA gene arrays. We developed a multicolor FISH procedure allowing the identification of all nine sugar beet chromosome pairs in a single hybridization using a pool of satellite DNA probes. Fiber-FISH was applied to analyse five chromosome arms in which the furthermost genetic marker of the linkage group was mapped adjacently to terminal repetitive sequences on pachytene chromosomes. Only on two arms telomere arrays and the markers are physically linked, hence these linkage groups can be considered as terminally closed making the further identification of distal informative markers difficult. The results support genetic mapping by marker localization, the anchoring of contigs and scaffolds for the annotation of the sugar beet genome sequence and the analysis of the chromosomal distribution patterns of major families of repetitive DNA. © 2012 The Authors. The Plant Journal © 2012 Blackwell Publishing Ltd.

  4. Genetics Home Reference: intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and ...

    Science.gov (United States)

    ... Less commonly, people with this condition have premature fusion of certain bones of the skull (craniosynostosis), a ... 4335-40. Review. Citation on PubMed More from Genetics Home Reference Bulletins March is Trisomy Awareness Month ...

  5. Using the Drosophila Melanogaster Genetics Reference Panel to Identify Toxicity Pathways for Toluene

    Science.gov (United States)

    Mechanistic information is needed to link effects of chemicals at molecular targets in high­ throughput screening assays to adverse outcomes in whole organisms. This study was designed to use the Drosophila Genetic Reference Panel (DGRP), a set of genetically well...

  6. Construction of a genome-anchored, high-density genetic map for melon (Cucumis melo L.) and identification of Fusarium oxysporum f. sp. melonis race 1 resistance QTL.

    Science.gov (United States)

    Branham, Sandra E; Levi, Amnon; Katawczik, Melanie; Fei, Zhangjun; Wechter, W Patrick

    2018-04-01

    Four QTLs and an epistatic interaction were associated with disease severity in response to inoculation with Fusarium oxysporum f. sp. melonis race 1 in a recombinant inbred line population of melon. The USDA Cucumis melo inbred line, MR-1, harbors a wealth of alleles associated with resistance to several major diseases of melon, including powdery mildew, downy mildew, Alternaria leaf blight, and Fusarium wilt. MR-1 was crossed to an Israeli cultivar, Ananas Yok'neam, which is susceptible to all of these diseases, to generate a recombinant inbred line (RIL) population of 172 lines. In this study, the RIL population was genotyped to construct an ultra-dense genetic linkage map with 5663 binned SNPs anchored to the C. melo genome and exhibits the overall high quality of the assembly. The utility of the densely genotyped population was demonstrated through QTL mapping of a well-studied trait, resistance to Fusarium wilt caused by Fusarium oxysporum f. sp. melonis (Fom) race 1. A major QTL co-located with the previously validated resistance gene Fom-2. In addition, three minor QTLs and an epistatic interaction contributing to Fom race 1 resistance were identified. The MR-1 × AY RIL population provides a valuable resource for future QTL mapping studies and marker-assisted selection of disease resistance in melon.

  7. The role of genetics in defining reference values and health status.

    Science.gov (United States)

    Siest, G; Visvikis, S; Zaiou, M; Régis, A; Jaid, M; Steinmetz, J; Herbeth, B; Artur, Y; Schiele, F; Gueguen, R

    1993-04-01

    Since its establishment, the Center for Preventive Medicine in Vandoeuvre-les-Nancy, France, performed specific studies on healthy humans, and its approach was very useful for defining reference values. Prevention should extend its interest to chronic diseases. The majority of important adult disorders are partially genetically determined. Genetic markers are also useful as exclusion or as partition criteria in the production of reference values. Results are presented that were obtained for apolipoproteins E, B and AIV, frequencies of these polymorphisms in the Lorraine population, and relationships between these polymorphisms and lipid metabolism-related parameters. Health checkup centers, in particular those involved in family screening, are well suited for resembling many data concerning environmental factors: tobacco consumption, alimentation habits, or alcohol and drug consumption. Simultaneous determination of genetic markers could allow the determination of an individual's susceptibility or resistance to developing a disease and to prepare a preventive action.

  8. Epigenetic-genetic chromosome dosage approach for fetal trisomy 21 detection using an autosomal genetic reference marker.

    Directory of Open Access Journals (Sweden)

    Yu K Tong

    Full Text Available BACKGROUND: The putative promoter of the holocarboxylase synthetase (HLCS gene on chromosome 21 is hypermethylated in placental tissues and could be detected as a fetal-specific DNA marker in maternal plasma. Detection of fetal trisomy 21 (T21 has been demonstrated by an epigenetic-genetic chromosome dosage approach where the amount of hypermethylated HLCS in maternal plasma is normalized using a fetal genetic marker on the Y chromosome as a chromosome dosage reference marker. We explore if this method can be applied on both male and female fetuses with the use of a paternally-inherited fetal single nucleotide polymorphism (SNP allele on a reference chromosome for chromosome dosage normalization. METHODOLOGY: We quantified hypermethylated HLCS molecules using methylation-sensitive restriction endonuclease digestion followed by real-time or digital PCR analyses. For chromosome dosage analysis, we compared the amount of digestion-resistant HLCS to that of a SNP allele (rs6636, a C/G SNP that the fetus has inherited from the father but absent in the pregnant mother. PRINCIPAL FINDINGS: Using a fetal-specific SNP allele on a reference chromosome, we analyzed 20 euploid and nine T21 placental tissue samples. All samples with the fetal-specific C allele were correctly classified. One sample from each of the euploid and T21 groups were misclassified when the fetal-specific G allele was used as the reference marker. We then analyzed 33 euploid and 14 T21 maternal plasma samples. All but one sample from each of the euploid and T21 groups were correctly classified using the fetal-specific C allele, while correct classification was achieved for all samples using the fetal-specific G allele as the reference marker. CONCLUSIONS: As a proof-of-concept study, we have demonstrated that the epigenetic-genetic chromosome dosage approach can be applied to the prenatal diagnosis of trisomy 21 for both male and female fetuses.

  9. Conversion of chromosome-specific RAPDs into SCAR-based anchor markers for onion linkage maps and its application to genetic analyses inother Allium species

    NARCIS (Netherlands)

    Masuzaki, S.; Miyazaki, T.; McCallum, J.; Heusden, van A.W.; Kik, C.; Yamashita, K.; Tashiro, Y.

    2008-01-01

    Integration of previously developed Allium cepa linkage maps requires the availability of anchor markers for each of the eight chromosomes of shallot (A. cepa L. common group Aggregatum). To this end, eight RAPD markers originating from our previous research were converted into SCAR markers via

  10. Susceptibility to anchoring effects

    Directory of Open Access Journals (Sweden)

    Todd McElroy

    2007-02-01

    Full Text Available Previous research on anchoring has shown this heuristic to be a very robust psychological phenomenon ubiquitous across many domains of human judgment and decision-making. Despite the prevalence of anchoring effects, researchers have only recently begun to investigate the underlying factors responsible for how and in what ways a person is susceptible to them. This paper examines how one such factor, the Big-Five personality trait of openness-to-experience, influences the effect of previously presented anchors on participants' judgments. Our findings indicate that participants high in openness-to-experience were significantly more influenced by anchoring cues relative to participants low in this trait. These findings were consistent across two different types of anchoring tasks providing convergent evidence for our hypothesis.

  11. Novel variants in Nordic patients referred for genetic testing of telomere-related disorders

    DEFF Research Database (Denmark)

    Norberg, Anna; Rosén, Anna; Raaschou-Jensen, Klas

    2018-01-01

    referred for genetic testing due to suspected telomere-related disorder. We performed Sanger sequencing of the genes TERT, TERC, DKC1, and TINF2 on 135 unrelated index patients and measured telomere length by qPCR on DNA from peripheral blood leukocytes. We identified pathogenic or likely pathogenic...... variants identified in our study highlights the need for solid interpretation of new variants that may be detected. Measurement of telomere length is a useful approach for evaluating pathogenicity of genetic variants associated with telomere-related disorders....

  12. Establishment of the first WHO international genetic reference panel for Prader Willi and Angelman syndromes.

    Science.gov (United States)

    Boyle, Jennifer; Hawkins, Malcolm; Barton, David E; Meaney, Karen; Guitart, Miriam; O'Grady, Anna; Tobi, Simon; Ramsden, Simon C; Elles, Rob; Gray, Elaine; Metcalfe, Paul; Hawkins, J Ross

    2011-08-01

    Prader Willi and Angelman syndromes are clinically distinct genetic disorders both mapping to chromosome region 15q11-q13, which are caused by a loss of function of paternally or maternally inherited genes in the region, respectively. With clinical diagnosis often being difficult, particularly in infancy, confirmatory genetic diagnosis is essential to enable clinical intervention. However, the latter is challenged by the complex genetics behind both disorders and the unmet need for characterised reference materials to aid accurate molecular diagnosis. With this in mind, a panel of six genotyping reference materials for Prader Willi and Angelman syndromes was developed, which should be stable for many years and available to all diagnostic laboratories. The panel comprises three Prader Willi syndrome materials (two with different paternal deletions, and one with maternal uniparental disomy (UPD)) and three Angelman syndrome materials (one with a maternal deletion, one with paternal UPD or an epigenetic imprinting centre defect, and one with a UBE3A point mutation). Genomic DNA was bulk-extracted from Epstein-Barr virus-transformed lymphoblastoid cell lines established from consenting patients, and freeze-dried as aliquots in glass ampoules. In total, 37 laboratories from 26 countries participated in a collaborative study to assess the suitability of the panel. Participants evaluated the blinded, triplicate materials using their routine diagnostic methods against in-house controls or externally sourced uncertified reference materials. The panel was established by the Expert Committee on Biological Standardization of the World Health Organization as the first International Genetic Reference Panel for Prader Willi and Angelman syndromes.

  13. Outcome of genetic evaluation of patients with kidney cancer referred for suspected hereditary cancer syndromes.

    Science.gov (United States)

    Stratton, Kelly L; Alanee, Shaheen; Glogowski, Emily A; Schrader, Kasmintan A; Rau-Murthy, Rohini; Klein, Robert; Russo, Paul; Coleman, Jonathan; Offit, Kenneth

    2016-05-01

    To analyze patients with kidney cancer referred for evaluation at a high-volume genetics service at a comprehensive cancer center and identify factors associated with positive tests for hereditary cancer syndromes. A retrospective review of patients referred to the Clinical Genetics Service at Memorial Sloan-Kettering Cancer Center was performed, and patients with a personal history of kidney cancer were identified. Patient and disease characteristics were reviewed. In all, 4 variables including age at diagnosis of kidney tumor, presence of syndromic manifestations, family history of kidney cancer, and number of primary malignancies were evaluated for association with positive test results in 2 groups: patients tested for renal cell carcinoma syndromes and Lynch syndrome. Guidance for genetic testing strategy in patients with kidney cancer is provided. Between 1999 and 2012, 120 patients with a history of kidney cancer were evaluated by the Clinical Genetics Service. The mean age at kidney cancer diagnosis was 52 years (interquartile range: 42-63), with 57% being women. A family history of kidney cancer was reported by 39 patients (33%). Time between diagnosis of first cancer and genetic consultation was 5 years in the remaining 23%. Overall, 95 patients were tested for genetic abnormalities with 27 (28%) testing positive. Testing for renal cell carcinoma (RCC)-related syndromes was performed on 43 patients, with 13 testing positive (30%). Lynch syndrome testing was positive in 9 patients (32%) after 28 were tested. In RCC-associated syndromes, young age of diagnosis was associated with positive test results. Conversely, syndromic manifestations and increasing number of primary malignancies were associated with positive Lynch testing. The discovery of inherited kidney cancer syndromes has provided a unique opportunity to identify patients at increased risk for cancer. Factors associated with positive genetic testing are unique to different syndromes. These data

  14. Charting the genotype-phenotype map: lessons from the Drosophila melanogaster Genetic Reference Panel.

    Science.gov (United States)

    Mackay, Trudy F C; Huang, Wen

    2018-01-01

    Understanding the genetic architecture (causal molecular variants, their effects, and frequencies) of quantitative traits is important for precision agriculture and medicine and predicting adaptive evolution, but is challenging in most species. The Drosophila melanogaster Genetic Reference Panel (DGRP) is a collection of 205 inbred strains with whole genome sequences derived from a single wild population in Raleigh, NC, USA. The large amount of quantitative genetic variation, lack of population structure, and rapid local decay of linkage disequilibrium in the DGRP and outbred populations derived from DGRP lines present a favorable scenario for performing genome-wide association (GWA) mapping analyses to identify candidate causal genes, polymorphisms, and pathways affecting quantitative traits. The many GWA studies utilizing the DGRP have revealed substantial natural genetic variation for all reported traits, little evidence for variants with large effects but enrichment for variants with low P-values, and a tendency for lower frequency variants to have larger effects than more common variants. The variants detected in the GWA analyses rarely overlap those discovered using mutagenesis, and often are the first functional annotations of computationally predicted genes. Variants implicated in GWA analyses typically have sex-specific and genetic background-specific (epistatic) effects, as well as pleiotropic effects on other quantitative traits. Studies in the DGRP reveal substantial genetic control of environmental variation. Taking account of genetic architecture can greatly improve genomic prediction in the DGRP. These features of the genetic architecture of quantitative traits are likely to apply to other species, including humans. WIREs Dev Biol 2018, 7:e289. doi: 10.1002/wdev.289 This article is categorized under: Invertebrate Organogenesis > Flies. © 2017 Wiley Periodicals, Inc.

  15. One Novel Multiple-Target Plasmid Reference Molecule Targeting Eight Genetically Modified Canola Events for Genetically Modified Canola Detection.

    Science.gov (United States)

    Li, Zhuqing; Li, Xiang; Wang, Canhua; Song, Guiwen; Pi, Liqun; Zheng, Lan; Zhang, Dabing; Yang, Litao

    2017-09-27

    Multiple-target plasmid DNA reference materials have been generated and utilized as good substitutes of matrix-based reference materials in the analysis of genetically modified organisms (GMOs). Herein, we report the construction of one multiple-target plasmid reference molecule, pCAN, which harbors eight GM canola event-specific sequences (RF1, RF2, MS1, MS8, Topas 19/2, Oxy235, RT73, and T45) and a partial sequence of the canola endogenous reference gene PEP. The applicability of this plasmid reference material in qualitative and quantitative PCR assays of the eight GM canola events was evaluated, including the analysis of specificity, limit of detection (LOD), limit of quantification (LOQ), and performance of pCAN in the analysis of various canola samples, etc. The LODs are 15 copies for RF2, MS1, and RT73 assays using pCAN as the calibrator and 10 genome copies for the other events. The LOQ in each event-specific real-time PCR assay is 20 copies. In quantitative real-time PCR analysis, the PCR efficiencies of all event-specific and PEP assays are between 91% and 97%, and the squared regression coefficients (R 2 ) are all higher than 0.99. The quantification bias values varied from 0.47% to 20.68% with relative standard deviation (RSD) from 1.06% to 24.61% in the quantification of simulated samples. Furthermore, 10 practical canola samples sampled from imported shipments in the port of Shanghai, China, were analyzed employing pCAN as the calibrator, and the results were comparable with those assays using commercial certified materials as the calibrator. Concluding from these results, we believe that this newly developed pCAN plasmid is one good candidate for being a plasmid DNA reference material in the detection and quantification of the eight GM canola events in routine analysis.

  16. Evaluating stakeholder's perspective on referred out genetic testing in Canada: a discrete choice experiment.

    Science.gov (United States)

    Blumenschein, P; Lilley, M; Bakal, J A; Christian, S

    2016-01-01

    The expanding number and increasing utility of clinical genetic tests is creating a growing burden on the Canadian healthcare system. Administrators are faced with the challenge of determining which genetic tests should be publicly funded. A discrete choice experiment (DCE) was utilized to assess the importance stakeholders place on five attributes of a genetic test. One hundred ninety individuals completed the DCE questions. Analysis of the data revealed that medical benefit of a test had the greatest impact on a respondent's decision to select a test for funding. The detection rate of the test ranked second in importance followed by severity of the condition, aim of the test, and cost. With limited resources available for referred out molecular genetic testing within a public healthcare setting such as Canada's, funding guidelines are critical. Our findings provide further evidence for the value of a decision-making framework and the relative importance of specific test attributes within such a framework. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  17. Career anchors and learning plan (part one

    Directory of Open Access Journals (Sweden)

    Daniela Brečko

    2006-12-01

    Full Text Available The article is divided into three parts. The first part concentrates on how important career is for an individual, organization and society. The author establishes that understanding of career has changed dramatically and does not only refer to climbing up the career ladder, but also moving off or even down the career ladder. The notion of career, as a lifelong and professional path, encompasses all aspects of human personality and their roles acquired through one's life. On basis of vast and longitudinal research, where the author has studied career anchors of individuals, it is the objective of the author to find out on basis of what grounds do the individuals decide to take certain directions in their careers and how learning contributes to such decisions. As a source the author has used Shein's theory of career anchors. Part one describes in greater detail 8 different career anchors and introduces their main features with the findings of the research, which refer to the analysis of professions (work positions and established career anchors. The author thus verifies the hypothesis that career anchors do exist in our area.

  18. Identification and assembly of genomes and genetic elements in complex metagenomic samples without using reference genomes

    DEFF Research Database (Denmark)

    Nielsen, Henrik Bjørn; Almeida, Mathieu; Juncker, Agnieszka

    2014-01-01

    , such as particular bacterial strains or viruses, remains a largely unsolved problem. Here we present a method, based on binning co-abundant genes across a series of metagenomic samples, that enables comprehensive discovery of new microbial organisms, viruses and co-inherited genetic entities and aids assembly...... of microbial genomes without the need for reference sequences. We demonstrate the method on data from 396 human gut microbiome samples and identify 7,381 co-abundance gene groups (CAGs), including 741 metagenomic species (MGS). We use these to assemble 238 high-quality microbial genomes and identify...... affiliations between MGS and hundreds of viruses or genetic entities. Our method provides the means for comprehensive profiling of the diversity within complex metagenomic samples....

  19. Which Individuals To Choose To Update the Reference Population? Minimizing the Loss of Genetic Diversity in Animal Genomic Selection Programs.

    Science.gov (United States)

    Eynard, Sonia E; Croiseau, Pascal; Laloë, Denis; Fritz, Sebastien; Calus, Mario P L; Restoux, Gwendal

    2018-01-04

    Genomic selection (GS) is commonly used in livestock and increasingly in plant breeding. Relying on phenotypes and genotypes of a reference population, GS allows performance prediction for young individuals having only genotypes. This is expected to achieve fast high genetic gain but with a potential loss of genetic diversity. Existing methods to conserve genetic diversity depend mostly on the choice of the breeding individuals. In this study, we propose a modification of the reference population composition to mitigate diversity loss. Since the high cost of phenotyping is the limiting factor for GS, our findings are of major economic interest. This study aims to answer the following questions: how would decisions on the reference population affect the breeding population, and how to best select individuals to update the reference population and balance maximizing genetic gain and minimizing loss of genetic diversity? We investigated three updating strategies for the reference population: random, truncation, and optimal contribution (OC) strategies. OC maximizes genetic merit for a fixed loss of genetic diversity. A French Montbéliarde dairy cattle population with 50K SNP chip genotypes and simulations over 10 generations were used to compare these different strategies using milk production as the trait of interest. Candidates were selected to update the reference population. Prediction bias and both genetic merit and diversity were measured. Changes in the reference population composition slightly affected the breeding population. Optimal contribution strategy appeared to be an acceptable compromise to maintain both genetic gain and diversity in the reference and the breeding populations. Copyright © 2018 Eynard et al.

  20. Which Individuals To Choose To Update the Reference Population? Minimizing the Loss of Genetic Diversity in Animal Genomic Selection Programs

    Directory of Open Access Journals (Sweden)

    Sonia E. Eynard

    2018-01-01

    Full Text Available Genomic selection (GS is commonly used in livestock and increasingly in plant breeding. Relying on phenotypes and genotypes of a reference population, GS allows performance prediction for young individuals having only genotypes. This is expected to achieve fast high genetic gain but with a potential loss of genetic diversity. Existing methods to conserve genetic diversity depend mostly on the choice of the breeding individuals. In this study, we propose a modification of the reference population composition to mitigate diversity loss. Since the high cost of phenotyping is the limiting factor for GS, our findings are of major economic interest. This study aims to answer the following questions: how would decisions on the reference population affect the breeding population, and how to best select individuals to update the reference population and balance maximizing genetic gain and minimizing loss of genetic diversity? We investigated three updating strategies for the reference population: random, truncation, and optimal contribution (OC strategies. OC maximizes genetic merit for a fixed loss of genetic diversity. A French Montbéliarde dairy cattle population with 50K SNP chip genotypes and simulations over 10 generations were used to compare these different strategies using milk production as the trait of interest. Candidates were selected to update the reference population. Prediction bias and both genetic merit and diversity were measured. Changes in the reference population composition slightly affected the breeding population. Optimal contribution strategy appeared to be an acceptable compromise to maintain both genetic gain and diversity in the reference and the breeding populations.

  1. The anchor integration model: A descriptive model of anchoring effects.

    Science.gov (United States)

    Turner, Brandon M; Schley, Dan R

    2016-11-01

    Few experimental effects in the psychology of judgment and decision making have been studied as meticulously as the anchoring effect. Although the existing literature provides considerable insight into the psychological processes underlying anchoring effects, extant theories up to this point have only generated qualitative predictions. While these theories have been productive in advancing our understanding of the underlying anchoring process, they leave much to be desired in the interpretation of specific anchoring effects. In this article, we introduce the Anchor Integration Model (AIM) as a descriptive tool for the measurement and quantification of anchoring effects. We develop two versions the model: one suitable for assessing between-participant anchoring effects, and another for assessing individual differences in anchoring effects. We then fit each model to data from two experiments, and demonstrate the model's utility in describing anchoring effects. Copyright © 2016 Elsevier Inc. All rights reserved.

  2. A statistical assessment of differences and equivalences between genetically modified and reference plant varieties

    Directory of Open Access Journals (Sweden)

    Amzal Billy

    2011-02-01

    Full Text Available Abstract Background Safety assessment of genetically modified organisms is currently often performed by comparative evaluation. However, natural variation of plant characteristics between commercial varieties is usually not considered explicitly in the statistical computations underlying the assessment. Results Statistical methods are described for the assessment of the difference between a genetically modified (GM plant variety and a conventional non-GM counterpart, and for the assessment of the equivalence between the GM variety and a group of reference plant varieties which have a history of safe use. It is proposed to present the results of both difference and equivalence testing for all relevant plant characteristics simultaneously in one or a few graphs, as an aid for further interpretation in safety assessment. A procedure is suggested to derive equivalence limits from the observed results for the reference plant varieties using a specific implementation of the linear mixed model. Three different equivalence tests are defined to classify any result in one of four equivalence classes. The performance of the proposed methods is investigated by a simulation study, and the methods are illustrated on compositional data from a field study on maize grain. Conclusions A clear distinction of practical relevance is shown between difference and equivalence testing. The proposed tests are shown to have appropriate performance characteristics by simulation, and the proposed simultaneous graphical representation of results was found to be helpful for the interpretation of results from a practical field trial data set.

  3. The Anchoring Concept

    DEFF Research Database (Denmark)

    Simonsen, Jesper

    1998-01-01

    This paper introduces the term 'anchoring' within systems development: Visions, developed through early systems design within an organization, need to be deeply rooted in the organization. A vision's rationale needs to be understood by those who decide if the vision should be implemented as well ...

  4. The Mosaic Ancestry of the Drosophila Genetic Reference Panel and the D. melanogaster Reference Genome Reveals a Network of Epistatic Fitness Interactions

    Science.gov (United States)

    Pool, John E.

    2015-01-01

    North American populations of Drosophila melanogaster derive from both European and African source populations, but despite their importance for genetic research, patterns of ancestry along their genomes are largely undocumented. Here, I infer geographic ancestry along genomes of the Drosophila Genetic Reference Panel (DGRP) and the D. melanogaster reference genome, which may have implications for reference alignment, association mapping, and population genomic studies in Drosophila. Overall, the proportion of African ancestry was estimated to be 20% for the DGRP and 9% for the reference genome. Combining my estimate of admixture timing with historical records, I provide the first estimate of natural generation time for this species (approximately 15 generations per year). Ancestry levels were found to vary strikingly across the genome, with less African introgression on the X chromosome, in regions of high recombination, and at genes involved in specific processes (e.g., circadian rhythm). An important role for natural selection during the admixture process was further supported by evidence that many unlinked pairs of loci showed a deficiency of Africa–Europe allele combinations between them. Numerous epistatic fitness interactions may therefore exist between African and European genotypes, leading to ongoing selection against incompatible variants. By focusing on hubs in this network of fitness interactions, I identified a set of interacting loci that include genes with roles in sensation and neuropeptide/hormone reception. These findings suggest that admixed D. melanogaster samples could become an important study system for the genetics of early-stage isolation between populations. PMID:26354524

  5. Finding the joker among the maize endogenous reference genes for genetically modified organism (GMO) detection.

    Science.gov (United States)

    Paternò, Annalisa; Marchesi, Ugo; Gatto, Francesco; Verginelli, Daniela; Quarchioni, Cinzia; Fusco, Cristiana; Zepparoni, Alessia; Amaddeo, Demetrio; Ciabatti, Ilaria

    2009-12-09

    The comparison of five real-time polymerase chain reaction (PCR) methods targeted at maize ( Zea mays ) endogenous sequences is reported. PCR targets were the alcohol dehydrogenase (adh) gene for three methods and high-mobility group (hmg) gene for the other two. The five real-time PCR methods have been checked under repeatability conditions at several dilution levels on both pooled DNA template from several genetically modified (GM) maize certified reference materials (CRMs) and single CRM DNA extracts. Slopes and R(2) coefficients of all of the curves obtained from the adopted regression model were compared within the same method and among all of the five methods, and the limit of detection and limit of quantitation were analyzed for each PCR system. Furthermore, method equivalency was evaluated on the basis of the ability to estimate the target haploid genome copy number at each concentration level. Results indicated that, among the five methods tested, one of the hmg-targeted PCR systems can be considered equivalent to the others but shows the best regression parameters and a higher repeteability along the dilution range. Thereby, it is proposed as a valid module to be coupled to different event-specific real-time PCR for maize genetically modified organism (GMO) quantitation. The resulting practicability improvement on the analytical control of GMOs is discussed.

  6. Long-term response to genomic selection: effects of estimation method and reference population structure for different genetic architectures.

    Science.gov (United States)

    Bastiaansen, John W M; Coster, Albart; Calus, Mario P L; van Arendonk, Johan A M; Bovenhuis, Henk

    2012-01-24

    Genomic selection has become an important tool in the genetic improvement of animals and plants. The objective of this study was to investigate the impacts of breeding value estimation method, reference population structure, and trait genetic architecture, on long-term response to genomic selection without updating marker effects. Three methods were used to estimate genomic breeding values: a BLUP method with relationships estimated from genome-wide markers (GBLUP), a Bayesian method, and a partial least squares regression method (PLSR). A shallow (individuals from one generation) or deep reference population (individuals from five generations) was used with each method. The effects of the different selection approaches were compared under four different genetic architectures for the trait under selection. Selection was based on one of the three genomic breeding values, on pedigree BLUP breeding values, or performed at random. Selection continued for ten generations. Differences in long-term selection response were small. For a genetic architecture with a very small number of three to four quantitative trait loci (QTL), the Bayesian method achieved a response that was 0.05 to 0.1 genetic standard deviation higher than other methods in generation 10. For genetic architectures with approximately 30 to 300 QTL, PLSR (shallow reference) or GBLUP (deep reference) had an average advantage of 0.2 genetic standard deviation over the Bayesian method in generation 10. GBLUP resulted in 0.6% and 0.9% less inbreeding than PLSR and BM and on average a one third smaller reduction of genetic variance. Responses in early generations were greater with the shallow reference population while long-term response was not affected by reference population structure. The ranking of estimation methods was different with than without selection. Under selection, applying GBLUP led to lower inbreeding and a smaller reduction of genetic variance while a similar response to selection was

  7. Anchored paired comparisons

    Science.gov (United States)

    Dalal, E. N.; Handley, J. C.; Wu, W.; Wang, J.

    2008-01-01

    The method of paired comparisons is often used in image quality evaluations. Psychometric scale values for quality judgments are modeled using Thurstone's Law of Comparative Judgment in which distance in a psychometric scale space is a function of the probability of preference. The transformation from psychometric space to probability is a cumulative probability distribution. The major drawback of a complete paired comparison experiment is that every treatment is compared to every other, thus the number of comparisons grows quadratically. We ameliorate this difficulty by performing paired comparisons in two stages, by precisely estimating anchors in the psychometric scale space which are spaced apart to cover the range of scale values and comparing treatments against those anchors. In this model, we employ a generalized linear model where the regression equation has a constant offset vector determined by the anchors. The result of this formulation is a straightforward statistical model easily analyzed using any modern statistics package. This enables model fitting and diagnostics. This method was applied to overall preference evaluations of color pictorial hardcopy images. The results were found to be compatible with complete paired comparison experiments, but with significantly less effort.

  8. Career anchors and values from different career management perspectives

    Directory of Open Access Journals (Sweden)

    Rodrigo Cunha da Silva

    2016-06-01

    Full Text Available Purpose – To analyze the relationships between career anchors and young Generation Y professionals’ values, from the career concept perspective. Design/methodology/approach – Research concerning the proposed objective was carried out through quantitative research involving 189 Business Administration majors from a Catholic university in São Paulo, Brazil. We used two instruments to identify the career anchors and values of respondents: Schein (1990 and Schwartz (1994, respectively. We used statistical techniques to explore the relationships between career anchors and values. Findings – Among the results, mention should be made to the statistical relationships found between analyzed career anchors and values. It is also important to stress that, although the Lifestyle career anchor was predominantly present in the conglomerate division, this anchor was the predominant characteristic in the differentiation of the smaller group of respondents, the new career group. The General Management Career Anchor, which presents a lower incidence, is the predominant characteristic of the larger group, referring to organizational careers. As well as the Lifestyle career anchor, the Hedonism value was predominant among respondents. Originality/value – The need to consider the following was found: Generation Y presents generational characteristics that drive people management to propose work structures that offer activities to generate learning, pleasure, self-fulfillment and conciliation between work and personal life.

  9. The Mosaic Ancestry of the Drosophila Genetic Reference Panel and the D. melanogaster Reference Genome Reveals a Network of Epistatic Fitness Interactions.

    Science.gov (United States)

    Pool, John E

    2015-12-01

    North American populations of Drosophila melanogaster derive from both European and African source populations, but despite their importance for genetic research, patterns of ancestry along their genomes are largely undocumented. Here, I infer geographic ancestry along genomes of the Drosophila Genetic Reference Panel (DGRP) and the D. melanogaster reference genome, which may have implications for reference alignment, association mapping, and population genomic studies in Drosophila. Overall, the proportion of African ancestry was estimated to be 20% for the DGRP and 9% for the reference genome. Combining my estimate of admixture timing with historical records, I provide the first estimate of natural generation time for this species (approximately 15 generations per year). Ancestry levels were found to vary strikingly across the genome, with less African introgression on the X chromosome, in regions of high recombination, and at genes involved in specific processes (e.g., circadian rhythm). An important role for natural selection during the admixture process was further supported by evidence that many unlinked pairs of loci showed a deficiency of Africa-Europe allele combinations between them. Numerous epistatic fitness interactions may therefore exist between African and European genotypes, leading to ongoing selection against incompatible variants. By focusing on hubs in this network of fitness interactions, I identified a set of interacting loci that include genes with roles in sensation and neuropeptide/hormone reception. These findings suggest that admixed D. melanogaster samples could become an important study system for the genetics of early-stage isolation between populations. © The Author 2015. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution.

  10. A Novel Reference Plasmid for the Qualitative Detection of Genetically Modified Rice in Food and Feed

    Directory of Open Access Journals (Sweden)

    Liang Li

    2015-01-01

    Full Text Available Rice is one of the most important food crops in the world. Genetically modified (GM technology has been used in rice to confer herbicide tolerance and pathogen or insect resistance. China invests heavily in research on GM rice. By the end of 2014, at least 250 transgenic rice lines had been developed in China. To monitor the presence of GM rice in food and feed, we collected information on foreign elements from 250 transgenic rice lines and found 5 elements, including the Agrobacterium tumefaciens nopaline synthase terminator (T-NOS, the cauliflower mosaic virus 35S promoter (CaMV35S, the ubiquitin gene (Ubi, the bar gene, and the hygromycin phosphotransferase gene (Hpt, that are commonly present in GM rice. Therefore, we constructed a novel plasmid (pBJGMM001 that contains fragments of these elements and two endogenous reference genes (the sucrose phosphate synthase gene, SPS, and the phosphoenolpyruvate carboxylase gene, PEPC. pBJGMM001 can serve as a standard for detecting 96% of GM rice lines in China. The primers, amplicons, reaction mixture, and PCR program were developed based on Chinese National Standards. The protocol was validated and determined to be suitable for practical use in monitoring and identifying GM rice.

  11. Inter-laboratory analysis of selected genetically modified plant reference materials with digital PCR.

    Science.gov (United States)

    Dobnik, David; Demšar, Tina; Huber, Ingrid; Gerdes, Lars; Broeders, Sylvia; Roosens, Nancy; Debode, Frederic; Berben, Gilbert; Žel, Jana

    2018-01-01

    Digital PCR (dPCR), as a new technology in the field of genetically modified (GM) organism (GMO) testing, enables determination of absolute target copy numbers. The purpose of our study was to test the transferability of methods designed for quantitative PCR (qPCR) to dPCR and to carry out an inter-laboratory comparison of the performance of two different dPCR platforms when determining the absolute GM copy numbers and GM copy number ratio in reference materials certified for GM content in mass fraction. Overall results in terms of measured GM% were within acceptable variation limits for both tested dPCR systems. However, the determined absolute copy numbers for individual genes or events showed higher variability between laboratories in one third of the cases, most possibly due to variability in the technical work, droplet size variability, and analysis of the raw data. GMO quantification with dPCR and qPCR was comparable. As methods originally designed for qPCR performed well in dPCR systems, already validated qPCR assays can most generally be used for dPCR technology with the purpose of GMO detection. Graphical abstract The output of three different PCR-based platforms was assessed in an inter-laboratory comparison.

  12. A novel reference plasmid for the qualitative detection of genetically modified rice in food and feed.

    Science.gov (United States)

    Li, Liang; Dong, Mei; An, Na; Liang, Lixia; Wan, Yusong; Jin, Wujun

    2015-01-01

    Rice is one of the most important food crops in the world. Genetically modified (GM) technology has been used in rice to confer herbicide tolerance and pathogen or insect resistance. China invests heavily in research on GM rice. By the end of 2014, at least 250 transgenic rice lines had been developed in China. To monitor the presence of GM rice in food and feed, we collected information on foreign elements from 250 transgenic rice lines and found 5 elements, including the Agrobacterium tumefaciens nopaline synthase terminator (T-NOS), the cauliflower mosaic virus 35S promoter (CaMV35S), the ubiquitin gene (Ubi), the bar gene, and the hygromycin phosphotransferase gene (Hpt), that are commonly present in GM rice. Therefore, we constructed a novel plasmid (pBJGMM001) that contains fragments of these elements and two endogenous reference genes (the sucrose phosphate synthase gene, SPS, and the phosphoenolpyruvate carboxylase gene, PEPC). pBJGMM001 can serve as a standard for detecting 96% of GM rice lines in China. The primers, amplicons, reaction mixture, and PCR program were developed based on Chinese National Standards. The protocol was validated and determined to be suitable for practical use in monitoring and identifying GM rice.

  13. Anchoring visions in organizations

    DEFF Research Database (Denmark)

    Simonsen, Jesper

    1999-01-01

    This paper introduces the term 'anchoring' within systems development: Visions, developed through early systems design within an organization, need to be deeply rooted in the organization. A vision's rationale needs to be understood by those who decide if the vision should be implemented as well...... as by those involved in the actual implementation. A model depicting a recent trend within systems development is presented: Organizations rely on purchasing generic software products and/or software development outsourced to external contractors. A contemporary method for participatory design, where...

  14. Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent.

    Science.gov (United States)

    Kalman, Lisa; Wilson, Jean Amos; Buller, Arlene; Dixon, John; Edelmann, Lisa; Geller, Louis; Highsmith, William Edward; Holtegaard, Leonard; Kornreich, Ruth; Rohlfs, Elizabeth M; Payeur, Toby L; Sellers, Tina; Toji, Lorraine; Muralidharan, Kasinathan

    2009-11-01

    Many recessive genetic disorders are found at a higher incidence in people of Ashkenazi Jewish (AJ) descent than in the general population. The American College of Medical Genetics and the American College of Obstetricians and Gynecologists have recommended that individuals of AJ descent undergo carrier screening for Tay Sachs disease, Canavan disease, familial dysautonomia, mucolipidosis IV, Niemann-Pick disease type A, Fanconi anemia type C, Bloom syndrome, and Gaucher disease. Although these recommendations have led to increased test volumes and number of laboratories offering AJ screening, well-characterized genomic reference materials are not publicly available. The Centers for Disease Control and Prevention-based Genetic Testing Reference Materials Coordination Program, in collaboration with members of the genetic testing community and Coriell Cell Repositories, have developed a panel of characterized genomic reference materials for AJ genetic testing. DNA from 31 cell lines, representing many of the common alleles for Tay Sachs disease, Canavan disease, familial dysautonomia, mucolipidosis IV, Niemann-Pick disease type A, Fanconi anemia type C, Bloom syndrome, Gaucher disease, and glycogen storage disease, was prepared by the Repository and tested in six clinical laboratories using three different PCR-based assay platforms. A total of 33 disease alleles was assayed and 25 different alleles were identified. These characterized materials are publicly available from Coriell and may be used for quality control, proficiency testing, test development, and research.

  15. Development of a genomic DNA reference material panel for myotonic dystrophy type 1 (DM1) genetic testing.

    Science.gov (United States)

    Kalman, Lisa; Tarleton, Jack; Hitch, Monica; Hegde, Madhuri; Hjelm, Nick; Berry-Kravis, Elizabeth; Zhou, Lili; Hilbert, James E; Luebbe, Elizabeth A; Moxley, Richard T; Toji, Lorraine

    2013-07-01

    Myotonic dystrophy type 1 (DM1) is caused by expansion of a CTG triplet repeat in the 3' untranslated region of the DMPK gene that encodes a serine-threonine kinase. Patients with larger repeats tend to have a more severe phenotype. Clinical laboratories require reference and quality control materials for DM1 diagnostic and carrier genetic testing. Well-characterized reference materials are not available. To address this need, the Centers for Disease Control and Prevention-based Genetic Testing Reference Material Coordination Program, in collaboration with members of the genetic testing community, the National Registry of Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Patients and Family Members, and the Coriell Cell Repositories, has established and characterized cell lines from patients with DM1 to create a reference material panel. The CTG repeats in genomic DNA samples from 10 DM1 cell lines were characterized in three clinical genetic testing laboratories using PCR and Southern blot analysis. DMPK alleles in the samples cover four of five DM1 clinical categories: normal (5 to 34 repeats), mild (50 to 100 repeats), classical (101 to 1000 repeats), and congenital (>1000 repeats). We did not identify or establish Coriell cell lines in the premutation range (35 to 49 repeats). These samples are publicly available for quality control, proficiency testing, test development, and research and should help improve the accuracy of DM1 testing. Copyright © 2013 American Society for Investigative Pathology. Published by Elsevier Inc. All rights reserved.

  16. Which individuals to choose to update the reference population? Minimizing the loss of genetic diversity in animal genomic selection programs

    NARCIS (Netherlands)

    Eynard, Sonia E.; Croiseau, Pascal; Laloë, Denis; Fritz, Sebastien; Calus, Mario P.L.; Restoux, Gwendal

    2018-01-01

    Genomic selection (GS) is commonly used in livestock and increasingly in plant breeding. Relying on phenotypes and genotypes of a reference population, GS allows performance prediction for young individuals having only genotypes. This is expected to achieve fast high genetic gain but with a

  17. Genetics Home Reference: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

    Science.gov (United States)

    ... of CADASIL GeneReview: CADASIL MedlinePlus Encyclopedia: Multi-Infarct Dementia General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are genetic ...

  18. Genetics Home Reference: hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome

    Science.gov (United States)

    ... potential to burst, causing bleeding within the brain ( hemorrhagic stroke ). However, in people with HANAC syndrome , these aneurysms ... Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are genetic conditions ...

  19. Career anchors of dentist leaders.

    Science.gov (United States)

    Tuononen, Tiina; Lammintakanen, Johanna; Suominen, Anna Liisa

    2016-08-01

    The work of a health care leader is demanding; in order to cope, leaders need motivation and support. The occurrence of intrinsic factors called career anchors (combination of one's competence, motives and values) could be a contributing factor in dentist leaders' career decisions. The aim of our study was to identify dentist leaders' career anchors and their association to dentist leaders' retention or turnover of the leadership position. Materials were gathered in 2014 via an electronic questionnaire from 156 current (Leaders) or former (Leavers) Finnish dentist leaders. Career anchor evaluation was conducted by the questionnaire and scoring-table taken from Edgar Schein's Career Anchors Self-Assessment. Both the most and the least important career anchors were detected by the highest and lowest scores and their occurrence reported as percentages. Associations between career anchor scores and tendency to stay were analyzed with logistic regression. 'Technical/Functional Competence' and 'Lifestyle' were most frequently reported as the most important and 'Entrepreneurial Creativity' and 'General Managerial Competence' as the least important career anchors. However, a higher level of 'General Managerial Competence' anchor was most significantly associated with staying in a leadership position. Instead, 'Pure Challenge' and 'Lifestyle' decreased the odds to stay. The knowledge of the important and essential career anchors of dentist leaders' and individuals' could perform crucial part in career choices and also in planning education, work opportunities and human resource policies promoting retention of dentist leaders and probably also other health care leaders.

  20. Construction of a reference plasmid molecule containing eight targets for the detection of genetically modified crops.

    Science.gov (United States)

    Wang, Xiumin; Teng, Da; Yang, Yalin; Tian, Fang; Guan, Qingfeng; Wang, Jianhua

    2011-04-01

    A standard plasmid containing eight targets was developed for quantitative detection of genetically modified (GM) soybeans and cotton. These eight targets were joined in tandem to form the pTLE8 plasmid with a length of 3,680 bp. This plasmid contains part of the endogenous soybean Lec1 gene, the Cauliflower mosaic virus (CaMV) 35S promoter, the Agrobacterium tumefaciens nopaline synthase (NOS) terminator, the PAT gene of the soybean line A2704-12, the event-specific 5'-junction region of Roundup-Ready Soya (RRS, 35SG), the Cry1A(c) gene from Bacillus thuringiensis (Bt), the endogenous cotton Sad1 gene, and a part of RRS EPSPS gene. The PCR efficiencies with pTLE8 as a calibrator ranged from 99.4% to 100.2% for the standard curves of the RRS EPSPS gene and the taxon-specific Lec1 gene (R(2)≥0.996). The limits of detection and quantification were nine and 15 copies, respectively. The standard deviation (SD) and relative standard deviation (RSD) values of repeatability were from 0.09 to 0.52 and from 0.28% to 2.11%, and those for reproducibility were from 0.12 to 1.15 and 0.42% to 3.85%, respectively. The average conversion factor (Cf) for the CRMs RRS quantification was 0.91. The RSD of the mean values for known samples ranged from 3.09% to 18.53%, and the biases were from 0.5% to 40%. These results show that our method using the pTLE8 plasmid as a reference material (RM) is reliable and feasible in the identification of GM soybeans, thus paving the way for the establishment of identification management systems for various products containing GMO components. © Springer-Verlag 2011

  1. The Holding Power of Anchors

    Indian Academy of Sciences (India)

    ton cutter Frolic. One thing is certain, however, the new anchor has no stock to foul the jib sheets when coming about, so that one continuously acting source of blasphemy will be removed. For the benefit of people who like to try new things, it is proposed to put this anchor on the market at the beginning of the coming season ...

  2. Development of a genomic DNA reference material panel for Rett syndrome (MECP2-related disorders) genetic testing.

    Science.gov (United States)

    Kalman, Lisa V; Tarleton, Jack C; Percy, Alan K; Aradhya, Swaroop; Bale, Sherri; Barker, Shannon D; Bayrak-Toydemir, Pinar; Bridges, Christina; Buller-Burckle, Arlene M; Das, Soma; Iyer, Ramaswamy K; Vo, Timothy D; Zvereff, Val V; Toji, Lorraine H

    2014-03-01

    Rett syndrome is a dominant X-linked disorder caused by point mutations (approximately 80%) or by deletions or insertions (approximately 15% to 18%) in the MECP2 gene. It is most common in females but lethal in males, with a distinctly different phenotype. Rett syndrome patients have severe neurological and behavioral problems. Clinical genetic testing laboratories commonly use characterized genomic DNA reference materials to assure the quality of the testing process; however, none are commercially available for MECP2 genetic testing. The Centers for Disease Control and Prevention's Genetic Testing Reference Material Coordination Program, in collaboration with the genetic testing community and the Coriell Cell Repositories, established 27 new cell lines and characterized the MECP2 mutations in these and in 8 previously available cell lines. DNA samples from the 35 cell lines were tested by eight clinical genetic testing laboratories using DNA sequence analysis and methods to assess copy number (multiplex ligation-dependent probe amplification, semiquantitative PCR, or array-based comparative genomic hybridization). The eight common point mutations known to cause approximately 60% of Rett syndrome cases were identified, as were other MECP2 variants, including deletions, duplications, and frame shift and splice-site mutations. Two of the 35 samples were from males with MECP2 duplications. These MECP2 and other characterized genomic DNA samples are publicly available from the NIGMS Repository at the Coriell Cell Repositories. Copyright © 2014 American Society for Investigative Pathology and the Association for Molecular Pathology. Published by Elsevier Inc. All rights reserved.

  3. Not all Anchors Weigh Equally.

    Science.gov (United States)

    Greenstein, Michael; Velazquez, Alexandra

    2017-11-01

    The anchoring bias is a reliable effect wherein a person's judgments are affected by initially presented information, but it is unknown specifically why this effect occurs. Research examining this bias suggests that elements of both numeric and semantic priming may be involved. To examine this, the present research used a phenomenon wherein people treat numeric information presented differently in Arabic numeral or verbal formats. We presented participants with one of many forms of an anchor that represented the same value (e.g., twelve hundred or 1,200). Thus, we could examine how a concept's meaning and its absolute numeric value affect anchoring. Experiments 1 and 2 showed that people respond to Arabic and verbal anchors differently. Experiment 3 showed that these differences occurred largely because people tend to think of numbers in digit format. This suggests that one's conceptual understanding of the anchored information matters more than its strict numeric value.

  4. Endogenous Reference Genes and Their Quantitative Real-Time PCR Assays for Genetically Modified Bread Wheat (Triticum aestivum L.) Detection.

    Science.gov (United States)

    Yang, Litao; Quan, Sheng; Zhang, Dabing

    2017-01-01

    Endogenous reference genes (ERG) and their derivate analytical methods are standard requirements for analysis of genetically modified organisms (GMOs). Development and validation of suitable ERGs is the primary step for establishing assays that monitoring the genetically modified (GM) contents in food/feed samples. Herein, we give a review of the ERGs currently used for GM wheat analysis, such as ACC1, PKABA1, ALMT1, and Waxy-D1, as well as their performances in GM wheat analysis. Also, we discussed one model for developing and validating one ideal RG for one plant species based on our previous research work.

  5. Genetics

    DEFF Research Database (Denmark)

    Christensen, Kaare; McGue, Matt

    2016-01-01

    The sequenced genomes of individuals aged ≥80 years, who were highly educated, self-referred volunteers and with no self-reported chronic diseases were compared to young controls. In these data, healthy ageing is a distinct phenotype from exceptional longevity and genetic factors that protect...

  6. Genetic structure, diversity, and allelic richness in composite collection and reference set in chickpea (Cicer arietinum L.

    Directory of Open Access Journals (Sweden)

    Gowda Cholenahalli LL

    2008-10-01

    Full Text Available Abstract Background Plant genetic resources (PGR are the basic raw materials for future genetic progress and an insurance against unforeseen threats to agricultural production. An extensive characterization of PGR provides an opportunity to dissect structure, mine allelic variations, and identify diverse accessions for crop improvement. The Generation Challenge Program http://www.generationcp.org conceptualized the development of "composite collections" and extraction of "reference sets" from these for more efficient tapping of global crop-related genetic resources. In this study, we report the genetic structure, diversity and allelic richness in a composite collection of chickpea using SSR markers, and formation of a reference set of 300 accessions. Results The 48 SSR markers detected 1683 alleles in 2915 accessions, of which, 935 were considered rare, 720 common and 28 most frequent. The alleles per locus ranged from 14 to 67, averaged 35, and the polymorphic information content was from 0.467 to 0.974, averaged 0.854. Marker polymorphism varied between groups of accessions in the composite collection and reference set. A number of group-specific alleles were detected: 104 in Kabuli, 297 in desi, and 69 in wild Cicer; 114 each in Mediterranean and West Asia (WA, 117 in South and South East Asia (SSEA, and 10 in African region accessions. Desi and kabuli shared 436 alleles, while wild Cicer shared 17 and 16 alleles with desi and kabuli, respectively. The accessions from SSEA and WA shared 74 alleles, while those from Mediterranean 38 and 33 alleles with WA and SSEA, respectively. Desi chickpea contained a higher proportion of rare alleles (53% than kabuli (46%, while wild Cicer accessions were devoid of rare alleles. A genotype-based reference set captured 1315 (78% of the 1683 composite collection alleles of which 463 were rare, 826 common, and 26 the most frequent alleles. The neighbour-joining tree diagram of this reference set represents

  7. A statistical assessment of differences and equivalences between genetically modified and reference plant varieties

    NARCIS (Netherlands)

    Voet, van der H.; Perry, J.N.; Amzal, B.; Paoletti, C.

    2011-01-01

    Background - Safety assessment of genetically modified organisms is currently often performed by comparative evaluation. However, natural variation of plant characteristics between commercial varieties is usually not considered explicitly in the statistical computations underlying the assessment.

  8. Genetics Home Reference: autosomal recessive spastic ataxia of Charlevoix-Saguenay

    Science.gov (United States)

    ... 12 months and 18 months, as toddlers are learning to walk. The signs and symptoms worsen over ... links) Health Topic: Degenerative Nerve Diseases Health Topic: Movement Disorders Health Topic: Neurologic Diseases Genetic and Rare Diseases ...

  9. Genetics Home Reference: COL4A1-related brain small-vessel disease

    Science.gov (United States)

    ... navigation Home Page Search Home Health Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Share: Email ... disease have an eye abnormality called Axenfeld-Rieger anomaly. Axenfeld-Rieger anomaly involves underdevelopment and eventual tearing ...

  10. Not all nutrition claims are perceived equal: anchoring effects and moderating mechanisms in food advertising.

    Science.gov (United States)

    Paek, Hye-Jin; Yoon, Hye Jin; Hove, Thomas

    2011-03-01

    Despite the increased use of health claims in food advertising, few studies have investigated how specific nutrition claims have differential effects depending on how they are presented. In this context, the current study tests the anchoring hypothesis. Anchoring refers to a common human tendency to evaluate information differently depending on the presence or absence of a numerical "anchor" or reference point. Two (pilot and main) experimental studies explore anchoring effects on audience response to food advertising both directly and moderated by cognitive, motivational, and message factors. The pilot study finds that food product ads employing nutrition claims with an anchor rather than without an anchor generate two results: First, participants perceive the product to have lower fat/lower calorie contents (anchoring hypothesis); second, they prefer the messages with an anchor over those without an anchor. The main study reports that when anchoring is successfully evoked, it produces favorable attitudes toward the ad, favorable attitudes toward the brand, and purchase intention-but only when moderated by health orientation, claim believability, and nutrition knowledge. Practical implications are provided with respect to regulatory guidelines and effective communication strategies for promoting low-fat and low-calorie products in food advertising.

  11. Radioprotection of the environment: on the context of biodiversity and evolutionary theory. A reference organism has no genetic properties

    International Nuclear Information System (INIS)

    Cedervall, Bjoern

    2008-01-01

    The recent efforts to define a basis for radioprotection of the environment include some concepts and ideas related to various endpoints which need a clarification. This paper focuses on the biodiversity concept and the context of individuals of a species as well as that of the species as a gene pool. A major problem with the ambition to radioprotect biodiversity is the concept 'reference organism' which has no genetic properties and therefore is in contradiction with a real biological species. Biodiversity and the species (gene pool) concept are, just as any other areas of biology, integral parts of evolutionary theory. With the reference organism as a basis no meaningful reasoning can take place which relates data on radioactivity levels or mutations to potential effects on populations or biodiversity. It is therefore suggested that the national and international bodies involved in radioprotection of the environment take advantage of evolutionary theory as a reference frame. (author)

  12. Development and application of a multi-targeting reference plasmid as calibrator for analysis of five genetically modified soybean events.

    Science.gov (United States)

    Pi, Liqun; Li, Xiang; Cao, Yiwei; Wang, Canhua; Pan, Liangwen; Yang, Litao

    2015-04-01

    Reference materials are important in accurate analysis of genetically modified organism (GMO) contents in food/feeds, and development of novel reference plasmid is a new trend in the research of GMO reference materials. Herein, we constructed a novel multi-targeting plasmid, pSOY, which contained seven event-specific sequences of five GM soybeans (MON89788-5', A2704-12-3', A5547-127-3', DP356043-5', DP305423-3', A2704-12-5', and A5547-127-5') and sequence of soybean endogenous reference gene Lectin. We evaluated the specificity, limit of detection and quantification, and applicability of pSOY in both qualitative and quantitative PCR analyses. The limit of detection (LOD) was as low as 20 copies in qualitative PCR, and the limit of quantification (LOQ) in quantitative PCR was 10 copies. In quantitative real-time PCR analysis, the PCR efficiencies of all event-specific and Lectin assays were higher than 90%, and the squared regression coefficients (R(2)) were more than 0.999. The quantification bias varied from 0.21% to 19.29%, and the relative standard deviations were from 1.08% to 9.84% in simulated samples analysis. All the results demonstrated that the developed multi-targeting plasmid, pSOY, was a credible substitute of matrix reference materials, and could be used as a reliable reference calibrator in the identification and quantification of multiple GM soybean events.

  13. Quality assurance for Duchenne and Becker muscular dystrophy genetic testing: development of a genomic DNA reference material panel.

    Science.gov (United States)

    Kalman, Lisa; Leonard, Jay; Gerry, Norman; Tarleton, Jack; Bridges, Christina; Gastier-Foster, Julie M; Pyatt, Robert E; Stonerock, Eileen; Johnson, Monique A; Richards, C Sue; Schrijver, Iris; Ma, Tianhui; Miller, Vanessa Rangel; Adadevoh, Yetsa; Furlong, Pat; Beiswanger, Christine; Toji, Lorraine

    2011-03-01

    Duchenne and Becker muscular dystrophies (DMD/BMD) are allelic X-linked recessive disorders that affect approximately 1 in 3500 and 1 in 20,000 male individuals, respectively. Approximately 65% of patients with DMD have deletions, 7% to 10% have duplications, and 25% to 30% have point mutations in one or more of the 79 exons of the dystrophin gene. Most clinical genetics laboratories test for deletions, and some use technologies that can detect smaller mutations and duplications. Reference and quality control materials for DMD/BMD diagnostic and carrier genetic testing are not commercially available. To help address this need, the Centers for Disease Control and Prevention-based Genetic Testing Reference Material Coordination Program, in collaboration with members of the genetic testing and the DMD/BMD patient communities and the Coriell Cell Repositories, have characterized new and existing cell lines to create a comprehensive DMD/BMD reference material panel. Samples from 31 Coriell DMD cell lines from male probands and female carriers were analyzed using the Affymetrix SNP Array 6.0 and Multiplex Ligation-Dependent Probe Amplification (MRC-Holland BV, Amsterdam, the Netherlands), a multiplex PCR assay, and DNA sequence analysis. Identified were 16 cell lines with deletions, 9 with duplications, and 4 with point mutations distributed throughout the dystrophin gene. There were no discordant results within assay limitations. These samples are publicly available from Coriell Institute for Medical Research (Camden, NJ) and can be used for quality assurance, proficiency testing, test development, and research, and should help improve the accuracy of DMD testing. Copyright © 2011 American Society for Investigative Pathology and the Association for Molecular Pathology. Published by Elsevier Inc. All rights reserved.

  14. Genetics Home Reference: short/branched chain acyl-CoA dehydrogenase deficiency

    Science.gov (United States)

    ... Hmong population by newborn screening using tandem mass spectrometry. Pediatrics. 2003 Jul;112(1 Pt 1):74-8. Review. Citation on PubMed Pasquali M, Monsen G, Richardson L, Alston M, Longo N. Biochemical findings in common inborn errors of metabolism. Am J Med Genet C Semin ...

  15. Molecular biology from bench-to-bedside - which colorectal cancer patients should be referred for genetic counselling and risk assessment

    DEFF Research Database (Denmark)

    Jensen, Lars Henrik; Dysager, Lars; Lindebjerg, Jan

    2010-01-01

    was to validate our previously suggested clinically applicable strategy based on molecular characteristics for identifying which patients to refer for genetic counselling. The strategy was validated in an unselected cohort of 287 colorectal cancer patients. All tumours were tested for MLH1, PMS2, MSH2 and MSH6...... not be ruled out in 12 patients. A follow-up at 8-10 years revealed four definite cases of Lynch syndrome and three highly suspicious. An easy and clinically applicable step-wise approach with immunohistochemistry (100%), BRAF sequencing (10%) and methylation analysis (5%) identified several patients...... with hereditary cancer. It is feasible to perform a molecular screening to select patients for genetic counselling....

  16. Equivalence testing using existing reference data: An example with genetically modified and conventional crops in animal feeding studies.

    Science.gov (United States)

    van der Voet, Hilko; Goedhart, Paul W; Schmidt, Kerstin

    2017-11-01

    An equivalence testing method is described to assess the safety of regulated products using relevant data obtained in historical studies with assumedly safe reference products. The method is illustrated using data from a series of animal feeding studies with genetically modified and reference maize varieties. Several criteria for quantifying equivalence are discussed, and study-corrected distribution-wise equivalence is selected as being appropriate for the example case study. An equivalence test is proposed based on a high probability of declaring equivalence in a simplified situation, where there is no between-group variation, where the historical and current studies have the same residual variance, and where the current study is assumed to have a sample size as set by a regulator. The method makes use of generalized fiducial inference methods to integrate uncertainties from both the historical and the current data. Copyright © 2017 The Authors. Published by Elsevier Ltd.. All rights reserved.

  17. Genetic catalogue, biological reference collections and online database of European marine fishes

    OpenAIRE

    Bautista, José M.; Verrez-bagnis, Veronique; Kourti, Naouma

    2006-01-01

    Taxonomy and systematics of most animal species have been described in sufficient detail to permit the classification of practically any organism and, in particular, may be of use in the identification of the species and subspecies for the fish trade and ecological concerns regarding fisheries. However, before FishTrace started there was a lack of fast reference tools that hindered the efficient identification and differentiation of teleosts required in fisheries management, biological and ec...

  18. Bone Anchored Hearing Aid

    Science.gov (United States)

    2002-01-01

    Executive Summary Objective The objective of this health technology policy assessment was to determine the effectiveness and cost-effectiveness of bone-anchored hearing aid (BAHA) in improving the hearing of people with conduction or mixed hearing loss. The Technology The (BAHA) is a bone conduction hearing device that includes a titanium fixture permanently implanted into the mastoid bone of the skull and an external percutaneous sound processor. The sound processor is attached to the fixture by means of a skin penetrating abutment. Because the device bypasses the middle ear and directly stimulates the cochlea, it has been recommended for individuals with conduction hearing loss or discharging middle ear infection. The titanium implant is expected to last a lifetime while the external sound processor is expected to last 5 years. The total initial device cost is approximately $5,300 and the external sound processor costs approximately $3,500. Review of BAHA by the Medical Advisory Secretariat The Medical Advisory Secretariat’s review is a descriptive synthesis of findings from 36 research articles published between January 1990 and May 2002. Summary of Findings No randomized controlled studies were found. The evidence was derived from level 4 case series with relative small sample sizes (ranging from 30-188). The majority of the studies have follow-up periods of eight years or longer. All except one study were based on monaural BAHA implant on the side with the best bone conduction threshold. Safety Level 4 evidence showed that BAHA has been be implanted safely in adults and children with success rates of 90% or higher in most studies. No mortality or life threatening morbidity has been reported. Revision rates for tissue reduction or resiting were generally under 10% for adults but have been reported to be as high as 25% in pediatric studies. Adverse skin reaction around the skin penetration site was the most common complication reported. Most of these

  19. Collaborative ring trial of the papaya endogenous reference gene and its polymerase chain reaction assays for genetically modified organism analysis.

    Science.gov (United States)

    Wei, Jiaojun; Li, Feiwu; Guo, Jinchao; Li, Xiang; Xu, Junfeng; Wu, Gang; Zhang, Dabing; Yang, Litao

    2013-11-27

    The papaya (Carica papaya L.) Chymopapain (CHY) gene has been reported as a suitable endogenous reference gene for genetically modified (GM) papaya detection in previous studies. Herein, we further validated the use of the CHY gene and its qualitative and quantitative polymerase chain reaction (PCR) assays through an interlaboratory collaborative ring trial. A total of 12 laboratories working on detection of genetically modified organisms participated in the ring trial and returned test results. Statistical analysis of the returned results confirmed the species specificity, low heterogeneity, and single-copy number of the CHY gene among different papaya varieties. The limit of detection of the CHY qualitative PCR assay was 0.1%, while the limit of quantification of the quantitative PCR assay was ∼25 copies of haploid papaya genome with acceptable PCR efficiency and linearity. The differences between the tested and true values of papaya content in 10 blind samples ranged from 0.84 to 6.58%. These results indicated that the CHY gene was suitable as an endogenous reference gene for the identification and quantification of GM papaya.

  20. Systems genetics of liver fibrosis: identification of fibrogenic and expression quantitative trait loci in the BXD murine reference population.

    Directory of Open Access Journals (Sweden)

    Rabea A Hall

    Full Text Available The progression of liver fibrosis in response to chronic injury varies considerably among individual patients. The underlying genetics is highly complex due to large numbers of potential genes, environmental factors and cell types involved. Here, we provide the first toxicogenomic analysis of liver fibrosis induced by carbon tetrachloride in the murine 'genetic reference panel' of recombinant inbred BXD lines. Our aim was to define the core of risk genes and gene interaction networks that control fibrosis progression. Liver fibrosis phenotypes and gene expression profiles were determined in 35 BXD lines. Quantitative trait locus (QTL analysis identified seven genomic loci influencing fibrosis phenotypes (pQTLs with genome-wide significance on chromosomes 4, 5, 7, 12, and 17. Stepwise refinement was based on expression QTL mapping with stringent selection criteria, reducing the number of 1,351 candidate genes located in the pQTLs to a final list of 11 cis-regulated genes. Our findings demonstrate that the BXD reference population represents a powerful experimental resource for shortlisting the genes within a regulatory network that determine the liver's vulnerability to chronic injury.

  1. How do Physicians Decide to Refer Their Patients for Psychiatric Genetic Counseling? A Qualitative Study of Physicians' Practice.

    Science.gov (United States)

    Leach, Emma; Morris, Emily; White, Hannah J; Inglis, Angela; Lehman, Anna; Austin, Jehannine

    2016-12-01

    Psychiatric genetic counseling (PGC) is an emerging specialty discipline within the genetic counseling profession. A specialist PGC service was founded in 2012 in Vancouver, Canada, and though patient benefits have been demonstrated, many physicians do not regularly refer patients to the service despite awareness of its availability. We conducted a qualitative study involving semi-structured telephone interviews with Vancouver-based physicians who were aware of the PGC service to explore this phenomenon. Interviews were audio-recorded, transcribed verbatim, coded, and analysed for emergent themes. Consistent with a grounded theory approach, constant comparison was employed throughout data collection and analysis. Analyses of interviews conducted with 12 physicians revealed that referral practices were informed by perceptions about the purpose of PGC and interpretation of patient cues. Physicians perceived PGC as an information-focused intervention, and considered referral when patients explicitly expressed desire for information about recurrence risk or etiology that they felt unable to adequately address themselves. Even when physicians identified psychotherapeutic benefits of PGC, patient needs of this nature were not perceived as cues prompting referral to PGC. These data suggest that further work is necessary to position PGC in physicians' minds as a service that could potentially benefit most individuals with psychiatric disorders and their families, and that it encompasses more than information provision. It is important to increase physicians' awareness of the complementary role that genetic counselors can play to that of the physician in providing psychotherapeutically oriented counselling about illness etiology.

  2. The Holding Power of Anchors

    Indian Academy of Sciences (India)

    as the chain begins to drag along the ground; and it also serves, by lying flat on the ground, to keep the palm set at the correct angle as it buries itself. In stockless anchors there are two digging blades set on opposite sides of the shank, and hinged to it by a horizontal hinge which allows them to set themselves at the correct.

  3. STABILITY IN REAL TIME OF SOME CRYOPRESERVED MICROBIAL STRAINS WITH REFERENCE TO GENETICALLY MODIFIED MICROORGANISMS

    Directory of Open Access Journals (Sweden)

    DANIELA VINTILĂ

    2007-05-01

    Full Text Available The aim of this work is to analyze the viability of microorganisms from Collection of Industrial Microorganisms from Faculty of Animal Science and Biotechnology – Timisoara, during freezing and thawing as part of cryopreservation technique. The stability in real time of 19 strains cryopreserved in 16% glycerol was evaluated during a 6-months period. The strains studied were: Escherichia coli, Lactobacillus acidophilus, Rhizobium meliloti, Saccharomyces cerevisiae, Aspergillus oryzae, Aspergillus niger, Trichoderma viride, Bacillus globigii, Bacillus licheniformis, and 9 strains of Bacillus subtilis. The strains cryopreserved at -20oC and -70oC were activated using the fast thawing protocol. A better cell recovery was achieved with the -70oC protocol reaching an average viability for E. coli of 86,3%, comparing with 78,6% in -20oC protocol. The cell recovery percentages for the other strains were: 92,4% for L. acidophilus, 93,9% for A.niger, 89% for A. oryzae, 86,7% for T. viride, 94,2% for R. meliloti, 82,1% for S. cerevisiae, 89,9% for B. licheniformis. Regarding the viability of genetically modified microorganisms, the values shows a good recovering after freezing and thawing, even after 180 days of cryopreservation. With the -20oC protocol lower viability was observed due probably to the formation of eutectic mixtures and recrystalization processes.

  4. Safety, stability and lifestyle: dominant career anchors among the heads of Slovenia’s market orientated agricultural holdings

    Directory of Open Access Journals (Sweden)

    Eva Boštjančič

    2015-12-01

    Full Text Available The paper is identifying the dominant career anchors among the heads of Slovenia’s market orientated agricultural holdings. The dominant anchors are the safety and stability anchors, followed by the lifestyle anchor. This suggests that the heads of Slovenian agricultural holdings want not only a stable, safe and predictable working environment, but also autonomy and a certain degree of flexibility in organising their work. The career anchors referred to in the agricultural holdings surveyed also indicate a lack of managerial skills among farmers, and there are only few references made to the challenge anchor. The development of agriculture and strong competition are now forcing Slovenian farmers to deal with several challenges, seek new opportunities and manage agricultural holdings in a responsible manner.

  5. Genetic potentiality of indigenous rice genotypes from Eastern India with reference to submergence tolerance and deepwater traits

    Directory of Open Access Journals (Sweden)

    Sayani Goswami

    2017-09-01

    Full Text Available Submergence tolerance in rice varieties is crucial for maintaining stable yields in low land areas, where recurrence of flooding is a constant phenomenon during monsoon. We have conducted detailed physiological and genotyping studies of 27 rice genotypes and one wild rice relative, popularly grown in low land areas of the two major rice growing states of eastern India, West Bengal and Odisha with a focus on submergence tolerance traits and Sub1 loci. We found that these genotypes show varying degree (50–100% survival rate during post submergence recovery period, and high degree of polymorphism in the Sub1 linked rice microsatellite loci RM219 and RM7175. Detailed allelic diversity study of Sub1A loci suggests that rice varieties IR42, Panibhasha, Khoda and Kalaputia share a common allele that is different from FR13A, Keralasundari, Bhashakalmi, Kumrogore. Two other genotypes Meghi and Khoda shares both alleles of Sub1A loci (present in IR42 and FR13A groups in addition to a new variant. Detailed sequence analysis of the amplified product for the Sub1A loci from these genotypes showed several single nucleotide changes with respect to reference Oryza sativa Sub1A loci (DQ011598. Three rice genotypes (Meghi, Bhashakalmi and Keralasundari showed beneficial properties in relation to induced submergence stress and can be considered as valuable genetic source in context of utilization of natural rice genetic resources in breeding program for submergence tolerance.

  6. Event-specific qualitative and quantitative detection of five genetically modified rice events using a single standard reference molecule.

    Science.gov (United States)

    Kim, Jae-Hwan; Park, Saet-Byul; Roh, Hyo-Jeong; Shin, Min-Ki; Moon, Gui-Im; Hong, Jin-Hwan; Kim, Hae-Yeong

    2017-07-01

    One novel standard reference plasmid, namely pUC-RICE5, was constructed as a positive control and calibrator for event-specific qualitative and quantitative detection of genetically modified (GM) rice (Bt63, Kemingdao1, Kefeng6, Kefeng8, and LLRice62). pUC-RICE5 contained fragments of a rice-specific endogenous reference gene (sucrose phosphate synthase) as well as the five GM rice events. An existing qualitative PCR assay approach was modified using pUC-RICE5 to create a quantitative method with limits of detection correlating to approximately 1-10 copies of rice haploid genomes. In this quantitative PCR assay, the square regression coefficients ranged from 0.993 to 1.000. The standard deviation and relative standard deviation values for repeatability ranged from 0.02 to 0.22 and 0.10% to 0.67%, respectively. The Ministry of Food and Drug Safety (Korea) validated the method and the results suggest it could be used routinely to identify five GM rice events. Copyright © 2017 Elsevier Ltd. All rights reserved.

  7. Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing

    Directory of Open Access Journals (Sweden)

    Stattin Eva-Lena

    2012-10-01

    Full Text Available Abstract Background Long QT syndrome (LQTS is an inherited arrhythmic disorder characterised by prolongation of the QT interval on ECG, presence of syncope and sudden death. The symptoms in LQTS patients are highly variable, and genotype influences the clinical course. This study aims to report the spectrum of LQTS mutations in a Swedish cohort. Methods Between March 2006 and October 2009, two hundred, unrelated index cases were referred to the Department of Clinical Genetics, Umeå University Hospital, Sweden, for LQTS genetic testing. We scanned five of the LQTS-susceptibility genes (KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 for mutations by DHPLC and/or sequencing. We applied MLPA to detect large deletions or duplications in the KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 genes. Furthermore, the gene RYR2 was screened in 36 selected LQTS genotype-negative patients to detect cases with the clinically overlapping disease catecholaminergic polymorphic ventricular tachycardia (CPVT. Results In total, a disease-causing mutation was identified in 103 of the 200 (52% index cases. Of these, altered exon copy numbers in the KCNH2 gene accounted for 2% of the mutations, whereas a RYR2 mutation accounted for 3% of the mutations. The genotype-positive cases stemmed from 64 distinct mutations, of which 28% were novel to this cohort. The majority of the distinct mutations were found in a single case (80%, whereas 20% of the mutations were observed more than once. Two founder mutations, KCNQ1 p.Y111C and KCNQ1 p.R518*, accounted for 25% of the genotype-positive index cases. Genetic cascade screening of 481 relatives to the 103 index cases with an identified mutation revealed 41% mutation carriers who were at risk of cardiac events such as syncope or sudden unexpected death. Conclusion In this cohort of Swedish index cases with suspected LQTS, a disease-causing mutation was identified in 52% of the referred patients. Copy number variations explained 2% of the

  8. Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.

    Science.gov (United States)

    Stattin, Eva-Lena; Boström, Ida Maria; Winbo, Annika; Cederquist, Kristina; Jonasson, Jenni; Jonsson, Björn-Anders; Diamant, Ulla-Britt; Jensen, Steen M; Rydberg, Annika; Norberg, Anna

    2012-10-25

    Long QT syndrome (LQTS) is an inherited arrhythmic disorder characterised by prolongation of the QT interval on ECG, presence of syncope and sudden death. The symptoms in LQTS patients are highly variable, and genotype influences the clinical course. This study aims to report the spectrum of LQTS mutations in a Swedish cohort. Between March 2006 and October 2009, two hundred, unrelated index cases were referred to the Department of Clinical Genetics, Umeå University Hospital, Sweden, for LQTS genetic testing. We scanned five of the LQTS-susceptibility genes (KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2) for mutations by DHPLC and/or sequencing. We applied MLPA to detect large deletions or duplications in the KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 genes. Furthermore, the gene RYR2 was screened in 36 selected LQTS genotype-negative patients to detect cases with the clinically overlapping disease catecholaminergic polymorphic ventricular tachycardia (CPVT). In total, a disease-causing mutation was identified in 103 of the 200 (52%) index cases. Of these, altered exon copy numbers in the KCNH2 gene accounted for 2% of the mutations, whereas a RYR2 mutation accounted for 3% of the mutations. The genotype-positive cases stemmed from 64 distinct mutations, of which 28% were novel to this cohort. The majority of the distinct mutations were found in a single case (80%), whereas 20% of the mutations were observed more than once. Two founder mutations, KCNQ1 p.Y111C and KCNQ1 p.R518*, accounted for 25% of the genotype-positive index cases. Genetic cascade screening of 481 relatives to the 103 index cases with an identified mutation revealed 41% mutation carriers who were at risk of cardiac events such as syncope or sudden unexpected death. In this cohort of Swedish index cases with suspected LQTS, a disease-causing mutation was identified in 52% of the referred patients. Copy number variations explained 2% of the mutations and 3 of 36 selected cases (8%) harboured a mutation in the

  9. Nominal Anchors in the CIS

    OpenAIRE

    Peter M Keller; Thomas J Richardson

    2003-01-01

    Monetary policy has become increasingly important in the countries of the Commonwealth of Independent States (CIS) as fiscal adjustment and structural reforms have taken root. Inflation has been brought down to relatively low levels in almost all of these countries, raising the question of what should be the appropriate nominal anchor at this stage. Formally, almost all CIS countries have floating exchange rate regimes, yet in practice they manage their exchange rates very heavily, perhaps be...

  10. Development and validation of European guidelines for seismic qualification of post-installed anchors.

    Science.gov (United States)

    Mahrenholtz, Philipp; Wood, Richard L; Eligehausen, Rolf; Hutchinson, Tara C; Hoehler, Matthew S

    2017-10-01

    This paper presents the technical background for the seismic qualification procedures for post-installed anchors in the European Technical Approval Guideline (ETAG 001) seismic annex issued in 2013. We discuss requirements for a comprehensive guideline and reference supporting documentation. Numerical studies to generate new simulated seismic protocols for anchors are summarized with focus on their application to Europe. To reduce the time and cost of anchor product qualification testing while fulfilling the requirement of European building codes to assess two performance categories, we combine the results of our numerical studies to generate novel testing protocols that allow for the assessment of anchor behavior at multiple levels in a unified protocol. Validation tests demonstrate that the unified protocol results in anchor performance comparable with that achieved in multiple, single-performance-level tests.

  11. [Bone-anchored auricular prosthesis].

    Science.gov (United States)

    Bille, M; Homøe, P; Vesterhauge, S; Rixen, M; Bretlau, P

    1994-10-03

    During the period February 1989-September 1991, 15 patients with absent or defective pinna were treated with a bone-anchored auricular prosthesis at the ENT-department, Rigshospitalet, Copenhagen. These patients were followed up from the hospital records and by means of a questionnaire. Altogether 40 titanium implants have been inserted, of which one implant was found not to be integrated at the time of the second-stage surgery. Five patients underwent additional surgery, one patient because of non-integration of a screw, and four patients on account of soft-tissue reactions. From the questionnaire replies it appears that all patients found the cosmetic result and the technique concerning mounting of the prosthesis very satisfactory. Nearly half the patients found that the care of the skin around the abutments caused considerable problems. Three patients had experienced unintended losses of the prosthesis. In conclusion, treatment with a bone anchored auricular prosthesis has considerable advantages compared to treatment with a prosthesis attached by adhesive. Furthermore the use of a bone-anchored prosthesis should be considered a viable alternative to surgical reconstruction because of the outstanding aesthetic result and because the surgical procedure puts less strain on the patient. The disadvantage of the method is the lifelong daily care of the skin and the dependence on the health services.

  12. El “Anclaje y Ajuste”, una herramienta de Marketing para analizar el poder de las referencias en el Arte, el Diseño y la Arquitectura = "Anchoring and Adjustment", a Marketing tool to analyse references in Art, Design and Architecture

    Directory of Open Access Journals (Sweden)

    Guillermo García-Badell

    2014-12-01

    , it is taken for granted that artistic and creative works' judgments are also influenced by references. However, there is a big lack of study in the way those judgments are made. From an economic point of view, we would like to describe how a product would be sold only knowing how it has been designed. However, in terms of Marketing it seems nonsensical to think about the selling consequences without studying the Consumer Behaviour before the definitive choice. The “Anchoring and Adjustment” effect describes, from a Marketing point of view, how references are needed to judge any product. Therefore, the purpose of this paper is to explain how “Anchoring and Adjustment” effect works and how it could be used to further Art, Design, and Architecture analyses.

  13. Genetics Home Reference: sialidosis

    Science.gov (United States)

    ... of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression. Hum Mutat. 2004 Jan; ... for Links Data Files & API Site Map Subscribe Customer Support USA.gov Copyright Privacy Accessibility FOIA Viewers & ...

  14. Genetics Home Reference: sitosterolemia

    Science.gov (United States)

    ... tissues. These lipids are called plant sterols (or phytosterols). Sitosterol is one of several plant sterols that ... Graf GA. The ABCG5 ABCG8 sterol transporter and phytosterols: implications for cardiometabolic disease. Curr Opin Endocrinol Diabetes ...

  15. Genetics Home Reference: hypophosphatasia

    Science.gov (United States)

    ... abnormalities similar to another childhood bone disorder called rickets . Affected infants are born with short limbs, an ... of the first signs of the condition in children. Affected children may have short stature with bowed ...

  16. Genetics Home Reference: tyrosinemia

    Science.gov (United States)

    ... kidney failure, softening and weakening of the bones ( rickets ), and an increased risk of liver cancer (hepatocellular carcinoma). Some affected children have repeated neurologic crises that consist of changes ...

  17. Genetics Home Reference: trichothiodystrophy

    Science.gov (United States)

    ... features of trichothiodystrophy can include dry, scaly skin (ichthyosis); abnormalities of the fingernails and toenails; clouding of ... 2 links) The Merck Manual for Healthcare Professionals: Ichthyosis The Merck Manual Home Edition for Patients and ...

  18. Genetics Home Reference: sialuria

    Science.gov (United States)

    ... molecules, sialic acid influences a wide variety of cellular functions including cell movement (migration), attachment of cells to one another (adhesion), signaling between cells, and inflammation. The enzyme produced ...

  19. Genetics Home Reference: pilomatricoma

    Science.gov (United States)

    ... as a pilomatrix carcinoma) occurs most often in middle age or late in life. Pilomatricoma usually occurs without ... What is precision medicine? What is newborn screening? New Pages RAB18 deficiency Depression Pelizaeus-Merzbacher-like disease ...

  20. Genetics Home Reference: vitiligo

    Science.gov (United States)

    ... Share: Email Facebook Twitter Home Health Conditions Vitiligo Vitiligo Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Vitiligo is a condition that causes patchy loss of ...

  1. Genetics Home Reference: aceruloplasminemia

    Science.gov (United States)

    ... but its overall prevalence is unknown. Studies in Japan have estimated that approximately 1 in 2 million ... Reviewed : October 2013 Published : March 6, 2018 The resources on this site should not be used as a ... Department of Health & Human Services National Institutes of Health National Library of ...

  2. Genetics Home Reference: neuroferritinopathy

    Science.gov (United States)

    ... be more apparent on one side of the body than on the other. Affected individuals may also have difficulty swallowing (dysphagia) and speaking (dysarthria). Intelligence is unaffected in most people with neuroferritinopathy , but ...

  3. Genetics Home Reference: monilethrix

    Science.gov (United States)

    ... boxes. Description Monilethrix is a condition that affects hair growth. Its most characteristic feature is that individual strands ... hair shaft. People with monilethrix also have sparse hair growth (hypotrichosis) and short, brittle hair that breaks easily. ...

  4. Genetics Home Reference: shingles

    Science.gov (United States)

    ... Share: Email Facebook Twitter Home Health Conditions Shingles Shingles Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Shingles (also known as herpes zoster) results from infection ...

  5. Genetics Home Reference: neuroblastoma

    Science.gov (United States)

    ... Share: Email Facebook Twitter Home Health Conditions Neuroblastoma Neuroblastoma Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Neuroblastoma is a type of cancer that most often ...

  6. Genetics Home Reference: hemophilia

    Science.gov (United States)

    ... Share: Email Facebook Twitter Home Health Conditions Hemophilia Hemophilia Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Hemophilia is a bleeding disorder that slows the blood ...

  7. Genetics Home Reference: schizophrenia

    Science.gov (United States)

    ... Share: Email Facebook Twitter Home Health Conditions Schizophrenia Schizophrenia Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Schizophrenia is a brain disorder classified as a psychosis, ...

  8. Genetics Home Reference: hypochondroplasia

    Science.gov (United States)

    ... of short-limbed dwarfism. This condition affects the conversion of cartilage into bone (a process called ossification), particularly in the long bones of the arms and legs. Hypochondroplasia is similar to another skeletal disorder called achondroplasia , but the features tend to be ...

  9. Genetics Home Reference: pseudoachondroplasia

    Science.gov (United States)

    ... the normal development of cartilage and for its conversion to bone. Cartilage is a tough, flexible tissue ... in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the ...

  10. Genetics Home Reference: hyperprolinemia

    Science.gov (United States)

    ... converting it to the amino acid glutamate. The conversion between proline and glutamate, and the reverse reaction ... Related Information What does it mean if a disorder seems to run in my family? What are ...

  11. Genetics Home Reference: galactosemia

    Science.gov (United States)

    ... how the body processes a simple sugar called galactose. A small amount of galactose is present in many foods. It is primarily ... of galactosemia result from an inability to use galactose to produce energy. Researchers have identified several types ...

  12. Genetics Home Reference: narcolepsy

    Science.gov (United States)

    ... J, Lin L, Hesselson S, Winkelmann J, Kawashima M, Mayer G, Plazzi G, Nevsimalova S, Bourgin P, Hong SC, ... P, Knudsen S, Bassetti C, Mathis J, Lecendreux M, Mayer G, Geisler P, Benetó A, Petit B, Pfister ...

  13. Genetics Home Reference: achondroplasia

    Science.gov (United States)

    ... Share: Email Facebook Twitter Home Health Conditions Achondroplasia Achondroplasia Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Achondroplasia is a form of short-limbed dwarfism. The ...

  14. Genetics Home Reference: aniridia

    Science.gov (United States)

    ... at the back of the eye responsible for sharp central vision (foveal hypoplasia). Many of these eye ... Aniridia is caused by mutations in the PAX6 gene. The PAX6 gene provides instructions for making a ...

  15. Genetics Home Reference: hypochondrogenesis

    Science.gov (United States)

    ... the most severe conditions in a spectrum of disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in ...

  16. Genetics Home Reference: achondrogenesis

    Science.gov (United States)

    ... Achondrogenesis type 2 is one of several skeletal disorders that result from mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in ...

  17. Genetics Home Reference: phenylketonuria

    Science.gov (United States)

    ... Share: Email Facebook Twitter Home Health Conditions Phenylketonuria Phenylketonuria Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Phenylketonuria (commonly known as PKU) is an inherited disorder ...

  18. Genetics Home Reference: fibrochondrogenesis

    Science.gov (United States)

    ... 2013 Oct 10;528(2):367-8. doi: 10.1016/j.gene.2013.07.038. Epub 2013 Jul ... 2012 Dec 15;511(2):480-1. doi: 10.1016/j.gene.2012.09.069. Epub 2012 Sep ... 2010 Nov 12;87(5):708-12. doi: 10.1016/j.ajhg.2010.10.009. Epub 2010 Oct ...

  19. Genetics Home Reference: schwannomatosis

    Science.gov (United States)

    ... schwannomatosis almost never includes inner ear tumors called vestibular schwannomas, which are a hallmark of neurofibromatosis type ... screening? New Pages Schizoaffective disorder Leprosy Polycystic ovary syndrome All New & Updated Pages Reviewed : January 2017 Published : ...

  20. Genetics Home Reference: acatalasemia

    Science.gov (United States)

    ... 1 in 25,000 people in Switzerland. The prevalence of acatalasemia in other populations is unknown. Related Information ... Acatalasemia Additional NIH Resources (1 link) National Institute of Diabetes and Digestive and Kidney Diseases: Your Guide to ...

  1. Genetics Home Reference: polymicrogyria

    Science.gov (United States)

    ... intellectual disability and multiple birth defects. These include 22q11.2 deletion syndrome , Adams-Oliver syndrome , Aicardi syndrome , Galloway- ... RJ, Pilz DT, Dobyns WB. Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common ...

  2. Genetics Home Reference: galactosialidosis

    Science.gov (United States)

    ... Other symptoms seen in some individuals with this type include intellectual disability, hearing loss, and a cherry-red spot. Children ... somewhat different than those of the other two types. This form is ... intellectual disability. People with this form typically also have dark ...

  3. Genetics Home Reference: choroideremia

    Science.gov (United States)

    ... loss of cells (atrophy) in the specialized light-sensitive tissue that lines the back of the eye ( retina ) and a nearby network of blood vessels (the choroid). The vision impairment in choroideremia worsens over time, but the progression varies among affected individuals. However, ...

  4. Genetics Home Reference: desmosterolosis

    Science.gov (United States)

    ... 2001 Aug 22. Citation on PubMed or Free article on PubMed Central Zolotushko J, Flusser H, Markus B, Shelef I, Langer Y, Heverin M, Björkhem I, Sivan S, Birk OS. The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and ...

  5. Genetics Home Reference: aspartylglucosaminuria

    Science.gov (United States)

    ... UK) ClinicalTrials.gov (1 link) ClinicalTrials.gov Scientific Articles on PubMed (1 link) PubMed OMIM (1 link) ASPARTYLGLUCOSAMINURIA Sources for This Page Aronson NN Jr. Aspartylglycosaminuria: biochemistry and molecular biology. Biochim Biophys Acta. 1999 Oct 8;1455(2- ...

  6. Genetics Home Reference: otulipenia

    Science.gov (United States)

    ... I. Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease. Proc Natl ... for Links Data Files & API Site Map Subscribe Customer Support USA.gov Copyright Privacy Accessibility FOIA Viewers & ...

  7. Genetics Home Reference: citrullinemia

    Science.gov (United States)

    ... chiefly affects the nervous system, causing confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma. Affected individuals often have specific food preferences, preferring protein-rich and fatty foods and ...

  8. Genetics Home Reference: retinoblastoma

    Science.gov (United States)

    ... Share: Email Facebook Twitter Home Health Conditions Retinoblastoma Retinoblastoma Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Retinoblastoma is a rare type of eye cancer that ...

  9. Genetics Home Reference: lymphangioleiomyomatosis

    Science.gov (United States)

    ... blood vessels. Angiomyolipomas usually develop in the kidneys. Internal bleeding is a common complication of angiomyolipomas. Related ... of Medicine Lister Hill National Center for Biomedical Communications 8600 Rockville Pike, Bethesda, MD 20894, USA HONCode ...

  10. Genetics Home Reference: depression

    Science.gov (United States)

    ... Share: Email Facebook Twitter Home Health Conditions Depression Depression Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Depression (also known as major depression or major depressive ...

  11. Genetics Home Reference: cystinosis

    Science.gov (United States)

    ... on PubMed Nesterova G, Gahl WA. Cystinosis: the evolution of a treatable disease. Pediatr Nephrol. 2013 Jan;28( ... nephropathic cystinosis: report of a case and review of the literature. Surv Ophthalmol. 2007 Jan-Feb;52(1):97-105. Review. ... testing? What is precision medicine? What is newborn screening? ...

  12. Genetics Home Reference: bradyopsia

    Science.gov (United States)

    ... affects vision. The term " bradyopsia " is from the Greek words for slow vision. In affected individuals, the ... in a dim environment. The ability to see colors and distinguish between them is normal. The vision ...

  13. Genetics Home Reference: erythromelalgia

    Science.gov (United States)

    ... These episodes are usually triggered by increased body temperature, which may be caused by exercise or entering ... legs. Erythromelalgia is often considered a form of peripheral neuropathy because it affects the peripheral nervous system, ...

  14. Anchors from Goa waters, central west coast of India: Remains of Goa's overseas trade contacts with Arabian countries and Portugal

    Digital Repository Service at National Institute of Oceanography (India)

    Tripati, S.; Gaur, A.S.; Sundaresh

    of the samples; Shri S.N. Bandodker for photographs; Shri S.B. Chitari for drawings and Shri Anthony Estrocia sports diver of Goa for donating a stone anchor to NIO. References Athiyaman,N.,2001,Stone anchors from east coast of India a...

  15. Characterization of an area of reference for inhalable particulate matter (PM2.5) associated with genetic biomonitoring in children.

    Science.gov (United States)

    Silva da Silva, Cristiane; Rossato, Juliana Marzari; Vaz Rocha, Jocelita Aparecida; Vargas, Vera Maria Ferrão

    2015-01-15

    Humans are exposed to health-impairing air pollutants, especially children who are more sensitive to cancer-causing toxins. This study described an area of reference for inhalable particulates (PM2.5) by chemical (polycyclic aromatic hydrocarbons) and mutagenic characterization associated with the genetic biomonitoring of children (aged 5-11 years). The area studied was in a small town in Brazil, used as reference in previous studies. Organic matter of PM2.5 (extracted with dichloromethane) was evaluated for mutagenesis in a Salmonella/microsome (microsuspension) assay, in strains measuring frameshift error (TA98, YG1021 and YG1024) and base pair substitution (TA100) of DNA, in the presence and absence of rat liver metabolization fraction (S9). Exposure was studied analyzing a sample of 45 children using comet assay (peripheral blood lymphocytes) and micronucleus (exfoliated buccal mucosa cells). PM2.5 concentration for the period was 9% (25.89-64.71 μg/m3) events above WHO limit value (25 μg/m3). Mutagenesis responses (revertants/m3) varied from negative (spring) to 8.3±0.69 (autumn) (-S9) and 5.4±0.36 (winter) (+S9), in strain TA98, and for TA100, in spring, from negative to 14.8±4.23 (-S9) and 17.5±2.72 (+S9). YG strain results show mononitroarenes and aromatic amines. Mean biomonitoring values were established for MN, 0.3±0.41 (‰) and for other cell types a variation from 0.6±0.73 (‰), nuclear buds to 57.5±24.92 (‰), karyorrhexis. Comet assay means were 23.1±12.44; 7.3±11.66 and 0.9±2.30 for tail length, intensity and moment, respectively. There was no difference for sex and age for the different parameters. A significant difference in confounding factors was observed for passive smoking and MN induction. PAHs and mutagenesis in the air may be related to local vehicular emissions. These results challenge the definition of areas of reference for air pollution associated with human biomonitoring including the region studied. Copyright © 2014

  16. Analysis of genetic diversity of southern Spain fig tree (Ficus carica L.) and reference materials as a tool for breeding and conservation.

    Science.gov (United States)

    Perez-Jiménez, M; López, B; Dorado, G; Pujadas-Salvá, A; Guzmán, G; Hernandez, P

    2012-06-01

    The common fig tree (Ficus carica L.) is a Mediterranean crop with problematic cultivar identification. The recovery and conservation of possible local varieties for ecological production requires the previous genetic characterization of the available germplasm. In this context, 42 lines corresponding to 12 local varieties and two caprifigs, in addition to 15 reference samples have been fingerprinted using 21 SSR markers. A total of 77 alleles were revealed, detecting a useful level of genetic variability within the local germplasm pools. UPGMA clustering analysis has revealed the genetic structure and relationships among the local and reference germplasm. Eleven of the local varieties could be identified and defined as obtained clusters, showing that SSR analysis is an efficient method to evaluate the Andalusian fig tree diversity for on-farm conservation. © 2012 The Authors.

  17. Development of Certified Matrix-Based Reference Material as a Calibrator for Genetically Modified Rice G6H1 Analysis.

    Science.gov (United States)

    Yang, Yu; Li, Liang; Yang, Hui; Li, Xiaying; Zhang, Xiujie; Xu, Junfeng; Zhang, Dabing; Jin, Wujun; Yang, Litao

    2018-04-03

    The accurate monitoring and quantification of genetically modified organisms (GMOs) are key points for the implementation of labeling regulations, and a certified reference material (CRM) acts as the scaleplate for quantifying the GM contents of foods/feeds and evaluating a GMO analytical method or equipment. Herein we developed a series of CRMs for transgenic rice event G6H1, which possesses insect-resistant and herbicide-tolerant traits. Three G6H1 CRMs were produced by mixing seed powders obtained from homozygous G6H1 and its recipient cultivar Xiushui 110 at mass ratios of 49.825%, 9.967%, and 4.986%. The between-bottle homogeneity and within-bottle homogeneity were thoroughly evaluated with consistent results. The potential DNA degradation in transportation and shelf life were evaluated with an expiration period of at least 12 months. The property values of three CRMs (G6H1 a , G6H1 b , G6H1 c ) were given as (49.825 ± 0.448) g/kg, (9.967 ± 1.757) g/kg, and (4.986 ± 1.274 g/kg based on mass fraction ratio, respectively. Furthermore, the three CRMs were characterized with values of (5.01 ± 0.08)%, (1.06 ± 0.22)%, and (0.53 ± 0.11)% based on the copy number ratio using the droplet digital PCR method. All results confirmed that the produced G6H1 matrix-based CRMs are of high quality with precise characterization values and can be used as calibrators in GM rice G6H1 inspection and monitoring and in evaluating new analytical methods or devices targeting the G6H1 event.

  18. Optimization Analysis Model of Self-Anchored Suspension Bridge

    Directory of Open Access Journals (Sweden)

    Pengzhen Lu

    2014-01-01

    Full Text Available The hangers of self-anchored suspension bridge need to be tensioned suitably during construction. In view of this point, a simplified optimization calculation method of cable force for self-anchored suspension bridge has been developed based on optimization theories, such as minimum bending energy method, and internal force balanced method, influence matrix method. Meanwhile, combined with the weak coherence of main cable and the adjacently interaction of hanger forces, a simplified analysis method is developed using MATLAB, which is then compared with the optimization method that consider the main cable's geometric nonlinearity with software ANSYS in an actual example bridge calculation. This contrast proves the weak coherence of main cable displacement and the limitation of the adjacent cable force influence. Furthermore, a tension program that is of great reference value has been developed; some important conclusions, advices, and attention points have been summarized.

  19. Suction anchors for floating production systems

    Energy Technology Data Exchange (ETDEWEB)

    Tjelta, T.I.; Rusas, P. [Statoil a.s. (Norway); Edvardsen, G. [HEX a.s. (Norway)

    1996-12-31

    Since the suction anchor is a recent development in its current use, this work provides a brief historical background. It is shown that the suction anchor throughout evolution today is a competitive foundation solution for many applications. Examples from these categories are included in this paper. Also several installation methods are discussed. 3 refs., 7 figs., 2 tabs.

  20. Anchors of Religious Commitment in Adolescents

    Science.gov (United States)

    Layton, Emily; Dollahite, David C.; Hardy, Sam A.

    2011-01-01

    This study explores adolescent religious commitment using qualitative data from a religiously diverse (Jewish, Christian, Muslim) sample of 80 adolescents. A new construct, "anchors of religious commitment," grounded in interview data, is proposed to describe what adolescents commit to as a part of their religious identity. Seven anchors of…

  1. 21 CFR 872.3130 - Preformed anchor.

    Science.gov (United States)

    2010-04-01

    ... DEVICES DENTAL DEVICES Prosthetic Devices § 872.3130 Preformed anchor. (a) Identification. A preformed anchor is a device made of austenitic alloys or alloys containing 75 percent or greater gold or metals of the platinum group intended to be incorporated into a dental appliance, such as a denture, to help...

  2. Application of genotyping-by-sequencing on semiconductor sequencing platforms: a comparison of genetic and reference-based marker ordering in barley.

    Science.gov (United States)

    Mascher, Martin; Wu, Shuangye; Amand, Paul St; Stein, Nils; Poland, Jesse

    2013-01-01

    The rapid development of next-generation sequencing platforms has enabled the use of sequencing for routine genotyping across a range of genetics studies and breeding applications. Genotyping-by-sequencing (GBS), a low-cost, reduced representation sequencing method, is becoming a common approach for whole-genome marker profiling in many species. With quickly developing sequencing technologies, adapting current GBS methodologies to new platforms will leverage these advancements for future studies. To test new semiconductor sequencing platforms for GBS, we genotyped a barley recombinant inbred line (RIL) population. Based on a previous GBS approach, we designed bar code and adapter sets for the Ion Torrent platforms. Four sets of 24-plex libraries were constructed consisting of 94 RILs and the two parents and sequenced on two Ion platforms. In parallel, a 96-plex library of the same RILs was sequenced on the Illumina HiSeq 2000. We applied two different computational pipelines to analyze sequencing data; the reference-independent TASSEL pipeline and a reference-based pipeline using SAMtools. Sequence contigs positioned on the integrated physical and genetic map were used for read mapping and variant calling. We found high agreement in genotype calls between the different platforms and high concordance between genetic and reference-based marker order. There was, however, paucity in the number of SNP that were jointly discovered by the different pipelines indicating a strong effect of alignment and filtering parameters on SNP discovery. We show the utility of the current barley genome assembly as a framework for developing very low-cost genetic maps, facilitating high resolution genetic mapping and negating the need for developing de novo genetic maps for future studies in barley. Through demonstration of GBS on semiconductor sequencing platforms, we conclude that the GBS approach is amenable to a range of platforms and can easily be modified as new sequencing

  3. Application of genotyping-by-sequencing on semiconductor sequencing platforms: a comparison of genetic and reference-based marker ordering in barley.

    Directory of Open Access Journals (Sweden)

    Martin Mascher

    Full Text Available The rapid development of next-generation sequencing platforms has enabled the use of sequencing for routine genotyping across a range of genetics studies and breeding applications. Genotyping-by-sequencing (GBS, a low-cost, reduced representation sequencing method, is becoming a common approach for whole-genome marker profiling in many species. With quickly developing sequencing technologies, adapting current GBS methodologies to new platforms will leverage these advancements for future studies. To test new semiconductor sequencing platforms for GBS, we genotyped a barley recombinant inbred line (RIL population. Based on a previous GBS approach, we designed bar code and adapter sets for the Ion Torrent platforms. Four sets of 24-plex libraries were constructed consisting of 94 RILs and the two parents and sequenced on two Ion platforms. In parallel, a 96-plex library of the same RILs was sequenced on the Illumina HiSeq 2000. We applied two different computational pipelines to analyze sequencing data; the reference-independent TASSEL pipeline and a reference-based pipeline using SAMtools. Sequence contigs positioned on the integrated physical and genetic map were used for read mapping and variant calling. We found high agreement in genotype calls between the different platforms and high concordance between genetic and reference-based marker order. There was, however, paucity in the number of SNP that were jointly discovered by the different pipelines indicating a strong effect of alignment and filtering parameters on SNP discovery. We show the utility of the current barley genome assembly as a framework for developing very low-cost genetic maps, facilitating high resolution genetic mapping and negating the need for developing de novo genetic maps for future studies in barley. Through demonstration of GBS on semiconductor sequencing platforms, we conclude that the GBS approach is amenable to a range of platforms and can easily be modified as new

  4. Using a reference population yardstick to calibrate and compare genetic diversity reported in different studies: an example from the brown bear.

    Science.gov (United States)

    Skrbinšek, T; Jelenčič, M; Waits, L P; Potočnik, H; Kos, I; Trontelj, P

    2012-11-01

    In species with large geographic ranges, genetic diversity of different populations may be well studied, but differences in loci and sample sizes can make the results of different studies difficult to compare. Yet, such comparisons are important for assessing the status of populations of conservation concern. We propose a simple approach of using a single well-studied reference population as a 'yardstick' to calibrate results of different studies to the same scale, enabling comparisons. We use a well-studied large carnivore, the brown bear (Ursus arctos), as a case study to demonstrate the approach. As a reference population, we genotyped 513 brown bears from Slovenia using 20 polymorphic microsatellite loci. We used this data set to calibrate and compare heterozygosity and allelic richness for 30 brown bear populations from 10 different studies across the global distribution of the species. The simplicity of the reference population approach makes it useful for other species, enabling comparisons of genetic diversity estimates between previously incompatible studies and improving our understanding of how genetic diversity is distributed throughout a species range.

  5. Development of Genomic DNA Reference Materials for Genetic Testing of Disorders Common in People of Ashkenazi Jewish Descent

    OpenAIRE

    Kalman, Lisa; Wilson, Jean Amos; Buller, Arlene; Dixon, John; Edelmann, Lisa; Geller, Louis; Highsmith, William Edward; Holtegaard, Leonard; Kornreich, Ruth; Rohlfs, Elizabeth M.; Payeur, Toby L.; Sellers, Tina; Toji, Lorraine; Muralidharan, Kasinathan

    2009-01-01

    Many recessive genetic disorders are found at a higher incidence in people of Ashkenazi Jewish (AJ) descent than in the general population. The American College of Medical Genetics and the American College of Obstetricians and Gynecologists have recommended that individuals of AJ descent undergo carrier screening for Tay Sachs disease, Canavan disease, familial dysautonomia, mucolipidosis IV, Niemann-Pick disease type A, Fanconi anemia type C, Bloom syndrome, and Gaucher disease. Although the...

  6. High-throughput physical map anchoring via BAC-pool sequencing

    Czech Academy of Sciences Publication Activity Database

    Cviková, Kateřina; Cattonaro, F.; Alaux, M.; Stein, N.; Mayer, K.F.X.; Doležel, Jaroslav; Bartoš, Jan

    2015-01-01

    Roč. 15, APR 11 (2015) ISSN 1471-2229 R&D Projects: GA ČR GA13-08786S; GA MŠk(CZ) LO1204 Institutional support: RVO:61389030 Keywords : Physical map * Contig anchoring * Next generation sequencing Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 3.631, year: 2015

  7. Anchoring effects on early autobiographical memories.

    Science.gov (United States)

    Greenberg, Daniel L; Bishara, Anthony J; Mugayar-Baldocchi, Marino A

    2017-10-01

    Studies of childhood memory typically show that our earliest memories come from between three and four years of age. This finding is not universal, however. The age estimate varies across cultures and is affected by social influences. Research from the judgments and decision-making literature suggests that these estimates might also involve a judgment under uncertainty. Therefore, they might be susceptible to less social influences such as heuristics and biases. To investigate this possibility, we conducted two experiments that used anchoring paradigms to influence participants' estimates of their age during early autobiographical memories. In Experiment 1, participants answered either a high-anchor or a low-anchor question, and were warned that the anchor was uninformative; they went on to estimate their age during their earliest autobiographical memory. In Experiment 2, we replicated Experiment 1 and extended the design to examine additional early autobiographical memories. In both experiments, participants in the low-anchor condition gave earlier age estimates than those in the high-anchor condition. These results provide new insights into the methods used to investigate autobiographical memory. Moreover, they show that reports of early autobiographical memories can be influenced by a relatively light touch - a change to a single digit in a single question.

  8. The Use of Comics-Based Cases in Anchored Instruction

    Science.gov (United States)

    Kneller, Matthew F.

    2009-01-01

    The primary purpose of this research was to understand how comics fulfill the role of anchor in an anchored instruction learning environment. Anchored instruction addresses the inert knowledge problem through the use of realistic multimedia stories, or "anchors," that embed a problem and the necessary data to solve it within the narrative. In the…

  9. Genetic differentiation in Gammarus fossarum and G. caparti (Crustacea, Amphipoda) with reference to G. pulex pulex in northwestern Europe

    NARCIS (Netherlands)

    Scheepmaker, Maarten; Dalfsen, van Jan

    1989-01-01

    Genetic differentiation among G. fossarum Koch, 1835 from different stations in Germany, Switzerland, Belgium and northern France, and the closely related Belgian form G. caparti Pètre-Stroobants, 1980 was investigated by electrophoresis at 20 enzyme loci. Although morphologically variable,

  10. A specific endogenous reference for genetically modified common bean (Phaseolus vulgaris L.) DNA quantification by real-time PCR targeting lectin gene.

    Science.gov (United States)

    Venturelli, Gustavo L; Brod, Fábio C A; Rossi, Gabriela B; Zimmermann, Naíra F; Oliveira, Jaison P; Faria, Josias C; Arisi, Ana C M

    2014-11-01

    The Embrapa 5.1 genetically modified (GM) common bean was approved for commercialization in Brazil. Methods for the quantification of this new genetically modified organism (GMO) are necessary. The development of a suitable endogenous reference is essential for GMO quantification by real-time PCR. Based on this, a new taxon-specific endogenous reference quantification assay was developed for Phaseolus vulgaris L. Three genes encoding common bean proteins (phaseolin, arcelin, and lectin) were selected as candidates for endogenous reference. Primers targeting these candidate genes were designed and the detection was evaluated using the SYBR Green chemistry. The assay targeting lectin gene showed higher specificity than the remaining assays, and a hydrolysis probe was then designed. This assay showed high specificity for 50 common bean samples from two gene pools, Andean and Mesoamerican. For GM common bean varieties, the results were similar to those obtained for non-GM isogenic varieties with PCR efficiency values ranging from 92 to 101 %. Moreover, this assay presented a limit of detection of ten haploid genome copies. The primers and probe developed in this work are suitable to detect and quantify either GM or non-GM common bean.

  11. International collaborative study of the endogenous reference gene, sucrose phosphate synthase (SPS), used for qualitative and quantitative analysis of genetically modified rice.

    Science.gov (United States)

    Jiang, Lingxi; Yang, Litao; Zhang, Haibo; Guo, Jinchao; Mazzara, Marco; Van den Eede, Guy; Zhang, Dabing

    2009-05-13

    One rice ( Oryza sativa ) gene, sucrose phosphate synthase (SPS), has been proven to be a suitable endogenous reference gene for genetically modified (GM) rice detection in a previous study. Herein are the reported results of an international collaborative ring trial for validation of the SPS gene as an endogenous reference gene and its optimized qualitative and quantitative polymerase chain reaction (PCR) systems. A total of 12 genetically modified organism (GMO) detection laboratories from seven countries participated in the ring trial and returned their results. The validated results confirmed the species specificity of the method through testing 10 plant genomic DNAs, low heterogeneity, and a stable single-copy number of the rice SPS gene among 7 indica varieties and 5 japonica varieties. The SPS qualitative PCR assay was validated with a limit of detection (LOD) of 0.1%, which corresponded to about 230 copies of haploid rice genomic DNA, while the limit of quantification (LOQ) for the quantitative PCR system was about 23 copies of haploid rice genomic DNA, with acceptable PCR efficiency and linearity. Furthermore, the bias between the test and true values of eight blind samples ranged from 5.22 to 26.53%. Thus, we believe that the SPS gene is suitable for use as an endogenous reference gene for the identification and quantification of GM rice and its derivates.

  12. Genetics

    Science.gov (United States)

    ... Likelihood of getting certain diseases Mental abilities Natural talents An abnormal trait (anomaly) that is passed down ... one of them has a genetic disorder. Information Human beings have cells with 46 chromosomes . These consist ...

  13. Development and Integration of Genome-Wide Polymorphic Microsatellite Markers onto a Reference Linkage Map for Constructing a High-Density Genetic Map of Chickpea.

    Directory of Open Access Journals (Sweden)

    Yash Paul Khajuria

    Full Text Available The identification of informative in silico polymorphic genomic and genic microsatellite markers by comparing the genome and transcriptome sequences of crop genotypes is a rapid, cost-effective and non-laborious approach for large-scale marker validation and genotyping applications, including construction of high-density genetic maps. We designed 1494 markers, including 1016 genomic and 478 transcript-derived microsatellite markers showing in-silico fragment length polymorphism between two parental genotypes (Cicer arietinum ICC4958 and C. reticulatum PI489777 of an inter-specific reference mapping population. High amplification efficiency (87%, experimental validation success rate (81% and polymorphic potential (55% of these microsatellite markers suggest their effective use in various applications of chickpea genetics and breeding. Intra-specific polymorphic potential (48% detected by microsatellite markers in 22 desi and kabuli chickpea genotypes was lower than inter-specific polymorphic potential (59%. An advanced, high-density, integrated and inter-specific chickpea genetic map (ICC4958 x PI489777 having 1697 map positions spanning 1061.16 cM with an average inter-marker distance of 0.625 cM was constructed by assigning 634 novel informative transcript-derived and genomic microsatellite markers on eight linkage groups (LGs of our prior documented, 1063 marker-based genetic map. The constructed genome map identified 88, including four major (7-23 cM longest high-resolution genomic regions on LGs 3, 5 and 8, where the maximum number of novel genomic and genic microsatellite markers were specifically clustered within 1 cM genetic distance. It was for the first time in chickpea that in silico FLP analysis at genome-wide level was carried out and such a large number of microsatellite markers were identified, experimentally validated and further used in genetic mapping. To best of our knowledge, in the presently constructed genetic map, we mapped

  14. Development and Integration of Genome-Wide Polymorphic Microsatellite Markers onto a Reference Linkage Map for Constructing a High-Density Genetic Map of Chickpea.

    Science.gov (United States)

    Khajuria, Yash Paul; Saxena, Maneesha S; Gaur, Rashmi; Chattopadhyay, Debasis; Jain, Mukesh; Parida, Swarup K; Bhatia, Sabhyata

    2015-01-01

    The identification of informative in silico polymorphic genomic and genic microsatellite markers by comparing the genome and transcriptome sequences of crop genotypes is a rapid, cost-effective and non-laborious approach for large-scale marker validation and genotyping applications, including construction of high-density genetic maps. We designed 1494 markers, including 1016 genomic and 478 transcript-derived microsatellite markers showing in-silico fragment length polymorphism between two parental genotypes (Cicer arietinum ICC4958 and C. reticulatum PI489777) of an inter-specific reference mapping population. High amplification efficiency (87%), experimental validation success rate (81%) and polymorphic potential (55%) of these microsatellite markers suggest their effective use in various applications of chickpea genetics and breeding. Intra-specific polymorphic potential (48%) detected by microsatellite markers in 22 desi and kabuli chickpea genotypes was lower than inter-specific polymorphic potential (59%). An advanced, high-density, integrated and inter-specific chickpea genetic map (ICC4958 x PI489777) having 1697 map positions spanning 1061.16 cM with an average inter-marker distance of 0.625 cM was constructed by assigning 634 novel informative transcript-derived and genomic microsatellite markers on eight linkage groups (LGs) of our prior documented, 1063 marker-based genetic map. The constructed genome map identified 88, including four major (7-23 cM) longest high-resolution genomic regions on LGs 3, 5 and 8, where the maximum number of novel genomic and genic microsatellite markers were specifically clustered within 1 cM genetic distance. It was for the first time in chickpea that in silico FLP analysis at genome-wide level was carried out and such a large number of microsatellite markers were identified, experimentally validated and further used in genetic mapping. To best of our knowledge, in the presently constructed genetic map, we mapped highest

  15. Development of a Novel Reference Plasmid for Accurate Quantification of Genetically Modified Kefeng6 Rice DNA in Food and Feed Samples

    Directory of Open Access Journals (Sweden)

    Liang Li

    2013-01-01

    Full Text Available Reference plasmids are an essential tool for the quantification of genetically modified (GM events. Quantitative real-time PCR (qPCR is the most commonly used method to characterize and quantify reference plasmids. However, the precision of this method is often limited by calibration curves, and qPCR data can be affected by matrix differences between the standards and samples. Here, we describe a digital PCR (dPCR approach that can be used to accurately measure the novel reference plasmid pKefeng6 and quantify the unauthorized variety of GM rice Kefeng6, eliminating the issues associated with matrix effects in calibration curves. The pKefeng6 plasmid was used as a calibrant for the quantification of Kefeng6 rice by determining the copy numbers of event- (77 bp and taxon-specific (68 bp fragments, their ratios, and their concentrations. The plasmid was diluted to five different concentrations. The third sample (S3 was optimized for the quantification range of dPCR according to previous reports. The ratio between the two fragments was 1.005, which closely approximated the value certified by sequencing, and the concentration was found to be 792 copies/μL. This method was precise, with an RSD of ~3%. These findings demonstrate the advantages of using the dPCR method to characterize reference materials.

  16. Ultimate load capacities of expansion anchor bolts

    International Nuclear Information System (INIS)

    Czarnecki, R.M.; Manrique, M.A.; Samaddar, S.K.

    1993-01-01

    A summary of available experimental expansion anchor bolt test data is presented. These data were collected as part of programs by the nuclear industry to address generic issues related to verification of seismic adequacy of equipment in nuclear power plants. Some of the data presented are suitable for use in seismic probabilistic risk assessments. For example, mean values of ultimate strength, along with their standard deviation and coefficients of variation, for a range of most typical expansion anchor bolt sizes are presented. Effects of interaction between shear and tension, edge distance, spacing, and cracking of the concrete are presented in a manner that is more suitable for use in deterministic evaluations. Related industry programs to derive anchor bolt capacities are briefly discussed. Recommendations for areas of further investigation are also presented

  17. Genetics

    International Nuclear Information System (INIS)

    Hubitschek, H.E.

    1975-01-01

    Progress is reported on the following research projects: genetic effects of high LET radiations; genetic regulation, alteration, and repair; chromosome replication and the division cycle of Escherichia coli; effects of radioisotope decay in the DNA of microorganisms; initiation and termination of DNA replication in Bacillus subtilis; mutagenesis in mouse myeloma cells; lethal and mutagenic effects of near-uv radiation; effect of 8-methoxypsoralen on photodynamic lethality and mutagenicity in Escherichia coli; DNA repair of the lethal effects of far-uv; and near uv irradiation of bacterial cells

  18. SNP discovery and chromosome anchoring provide the first physically-anchored hexaploid oat map and reveal synteny with model species.

    Directory of Open Access Journals (Sweden)

    Rebekah E Oliver

    Full Text Available A physically anchored consensus map is foundational to modern genomics research; however, construction of such a map in oat (Avena sativa L., 2n = 6x = 42 has been hindered by the size and complexity of the genome, the scarcity of robust molecular markers, and the lack of aneuploid stocks. Resources developed in this study include a modified SNP discovery method for complex genomes, a diverse set of oat SNP markers, and a novel chromosome-deficient SNP anchoring strategy. These resources were applied to build the first complete, physically-anchored consensus map of hexaploid oat. Approximately 11,000 high-confidence in silico SNPs were discovered based on nine million inter-varietal sequence reads of genomic and cDNA origin. GoldenGate genotyping of 3,072 SNP assays yielded 1,311 robust markers, of which 985 were mapped in 390 recombinant-inbred lines from six bi-parental mapping populations ranging in size from 49 to 97 progeny. The consensus map included 985 SNPs and 68 previously-published markers, resolving 21 linkage groups with a total map distance of 1,838.8 cM. Consensus linkage groups were assigned to 21 chromosomes using SNP deletion analysis of chromosome-deficient monosomic hybrid stocks. Alignments with sequenced genomes of rice and Brachypodium provide evidence for extensive conservation of genomic regions, and renewed encouragement for orthology-based genomic discovery in this important hexaploid species. These results also provide a framework for high-resolution genetic analysis in oat, and a model for marker development and map construction in other species with complex genomes and limited resources.

  19. Intramodal and crossmodal pairing and anchoring in comparisons of successive stimuli.

    Science.gov (United States)

    Hellström, Åke; Cederström, Caroline

    2014-05-01

    Two experiments were conducted to study effects of modality, temporal position, and their interaction on comparisons of successive stimuli. In Experiment 1, intramodal (tone-tone and line-line) and crossmodal (tone-line and line-tone) stimulus pairs, with two interstimulus intervals (ISIs), 400 and 2,000 ms, were presented. Participants indicated which stimulus was the "stronger." Time-order errors (TOEs) were assessed using the D% measure and were found in all types of pairs. Variation in TOEs across conditions was well accounted for by changes in parameters (stimulus weights, reference levels) in an extended version of Hellström's sensation weighting (SW) model. With an ISI of 2,000 ms, the first stimulus had a lower weight (less impact on the response) than did the second stimulus. More negative TOEs were found with the longer ISI in all pair types except tone-line. In Experiment 2, participants indicated which of two lines was the longer or which of two tones was the louder. An intra- or crossmodal anchor, or no anchor, was interpolated between the stimuli. Anchoring tended to reduce the weight of the first stimulus, suggesting interference with memory, and to yield negative TOEs. Intramodal anchors yielded reduced weights of both stimuli, most dramatically for tones, suggesting an additional effect of stimulus interference. Response times decreased with crossmodal anchors. For line-line pairs, strong negative TOEs were found. In both experiments, the variation in TOE across conditions was well accounted for by the SW model.

  20. Monogenean anchor morphometry: systematic value, phylogenetic signal, and evolution

    Directory of Open Access Journals (Sweden)

    Tsung Fei Khang

    2016-02-01

    Full Text Available Background. Anchors are one of the important attachment appendages for monogenean parasites. Common descent and evolutionary processes have left their mark on anchor morphometry, in the form of patterns of shape and size variation useful for systematic and evolutionary studies. When combined with morphological and molecular data, analysis of anchor morphometry can potentially answer a wide range of biological questions. Materials and Methods. We used data from anchor morphometry, body size and morphology of 13 Ligophorus (Monogenea: Ancyrocephalidae species infecting two marine mugilid (Teleostei: Mugilidae fish hosts: Moolgarda buchanani (Bleeker and Liza subviridis (Valenciennes from Malaysia. Anchor shape and size data (n = 530 were generated using methods of geometric morphometrics. We used 28S rRNA, 18S rRNA, and ITS1 sequence data to infer a maximum likelihood phylogeny. We discriminated species using principal component and cluster analysis of shape data. Adams’s Kmult was used to detect phylogenetic signal in anchor shape. Phylogeny-correlated size and shape changes were investigated using continuous character mapping and directional statistics, respectively. We assessed morphological constraints in anchor morphometry using phylogenetic regression of anchor shape against body size and anchor size. Anchor morphological integration was studied using partial least squares method. The association between copulatory organ morphology and anchor shape and size in phylomorphospace was used to test the Rohde-Hobbs hypothesis. We created monogeneaGM, a new R package that integrates analyses of monogenean anchor geometric morphometric data with morphological and phylogenetic data. Results. We discriminated 12 of the 13 Ligophorus species using anchor shape data. Significant phylogenetic signal was detected in anchor shape. Thus, we discovered new morphological characters based on anchor shaft shape, the length between the inner root point and the

  1. Monogenean anchor morphometry: systematic value, phylogenetic signal, and evolution.

    Science.gov (United States)

    Khang, Tsung Fei; Soo, Oi Yoon Michelle; Tan, Wooi Boon; Lim, Lee Hong Susan

    2016-01-01

    Background. Anchors are one of the important attachment appendages for monogenean parasites. Common descent and evolutionary processes have left their mark on anchor morphometry, in the form of patterns of shape and size variation useful for systematic and evolutionary studies. When combined with morphological and molecular data, analysis of anchor morphometry can potentially answer a wide range of biological questions. Materials and Methods. We used data from anchor morphometry, body size and morphology of 13 Ligophorus (Monogenea: Ancyrocephalidae) species infecting two marine mugilid (Teleostei: Mugilidae) fish hosts: Moolgarda buchanani (Bleeker) and Liza subviridis (Valenciennes) from Malaysia. Anchor shape and size data (n = 530) were generated using methods of geometric morphometrics. We used 28S rRNA, 18S rRNA, and ITS1 sequence data to infer a maximum likelihood phylogeny. We discriminated species using principal component and cluster analysis of shape data. Adams's K mult was used to detect phylogenetic signal in anchor shape. Phylogeny-correlated size and shape changes were investigated using continuous character mapping and directional statistics, respectively. We assessed morphological constraints in anchor morphometry using phylogenetic regression of anchor shape against body size and anchor size. Anchor morphological integration was studied using partial least squares method. The association between copulatory organ morphology and anchor shape and size in phylomorphospace was used to test the Rohde-Hobbs hypothesis. We created monogeneaGM, a new R package that integrates analyses of monogenean anchor geometric morphometric data with morphological and phylogenetic data. Results. We discriminated 12 of the 13 Ligophorus species using anchor shape data. Significant phylogenetic signal was detected in anchor shape. Thus, we discovered new morphological characters based on anchor shaft shape, the length between the inner root point and the outer root

  2. Heat-Conducting Anchors for Thermocouples

    Science.gov (United States)

    Macdavid, Kenton S.

    1987-01-01

    Metal particles in adhesive aid heat transfer. Aluminum caps containing silver-filled epoxy used as high-thermal-conductance anchors for thermocouples, epoxy providing thermal path between mounting surfaces and thermocouple measuring junctions. Normally, epoxy-filled aluminum caps used when measuring steady-state temperatures. Silver-filled epoxy used when thermocouple not isolated electrically from surface measured.

  3. Anchoring Singapore Philanthropy in Southeast Asia | CRDI ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    Anchoring Singapore Philanthropy in Southeast Asia. Philanthropy in Singapore has traditionally had a charitable and local orientation. However, given the country's growing wealth and strong ties (trade, investment, migration) with its less advantaged neighbours, it is expected that considerable philanthropic capital will ...

  4. Anchoring Singapore Philanthropy in Southeast Asia | IDRC ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    Anchoring Singapore Philanthropy in Southeast Asia. Philanthropy in Singapore has traditionally had a charitable and local orientation. However, given the country's growing wealth and strong ties (trade, investment, migration) with its less advantaged neighbours, it is expected that considerable philanthropic capital will ...

  5. The bone-anchored hearing aid

    DEFF Research Database (Denmark)

    Foghsgaard, Søren

    2014-01-01

    The bone-anchored hearing aid (Baha) was introduced in 1977 by Tjellström and colleagues and has now been used clinically for over 30 years. Generally, the outcomes are good, and several studies have shown improved audiological- and quality of life outcomes. The principle of the Baha is, that sound...

  6. Anchoring the Panic Disorder Severity Scale

    Science.gov (United States)

    Keough, Meghan E.; Porter, Eliora; Kredlow, M. Alexandra; Worthington, John J.; Hoge, Elizabeth A.; Pollack, Mark H.; Shear, M. Katherine; Simon, Naomi M.

    2012-01-01

    The Panic Disorder Severity Scale (PDSS) is a clinician-administered measure of panic disorder symptom severity widely used in clinical research. This investigation sought to provide clinically meaningful anchor points for the PDSS both in terms of clinical severity as measured by the Clinical Global Impression-Severity Scale (CGI-S) and to extend…

  7. Chemical biology of Glycosylphosphatidylinositol (GPI) anchors

    Indian Academy of Sciences (India)

    Admin

    CSIR-IIIM. Chemical biology of. Glycosylphosphatidylinositol (GPI) anchors. Ram Vishwakarma. CSIR-Indian Institute of Integrative Medicine, Jammu. N ti l I tit t f I l. N. D lhi. National Institute of Immunology, New Delhi. Piramal Life Sciences Ltd, Mumbai ...

  8. Influence of Anchoring on Burial Depth of Submarine Pipelines.

    Science.gov (United States)

    Zhuang, Yuan; Li, Yang; Su, Wei

    2016-01-01

    Since the beginning of the twenty-first century, there has been widespread construction of submarine oil-gas transmission pipelines due to an increase in offshore oil exploration. Vessel anchoring operations are causing more damage to submarine pipelines due to shipping transportation also increasing. Therefore, it is essential that the influence of anchoring on the required burial depth of submarine pipelines is determined. In this paper, mathematical models for ordinary anchoring and emergency anchoring have been established to derive an anchor impact energy equation for each condition. The required effective burial depth for submarine pipelines has then been calculated via an energy absorption equation for the protection layer covering the submarine pipelines. Finally, the results of the model calculation have been verified by accident case analysis, and the impact of the anchoring height, anchoring water depth and the anchor weight on the required burial depth of submarine pipelines has been further analyzed.

  9. Quantification of genetically modified soybeans using a combination of a capillary-type real-time PCR system and a plasmid reference standard.

    Science.gov (United States)

    Toyota, Akie; Akiyama, Hiroshi; Sugimura, Mitsunori; Watanabe, Takahiro; Kikuchi, Hiroyuki; Kanamori, Hisayuki; Hino, Akihiro; Esaka, Muneharu; Maitani, Tamio

    2006-04-01

    Because the labeling of grains and feed- and foodstuffs is mandatory if the genetically modified organism (GMO) content exceeds a certain level of approved genetically modified varieties in many countries, there is a need for a rapid and useful method of GMO quantification in food samples. In this study, a rapid detection system was developed for Roundup Ready Soybean (RRS) quantification using a combination of a capillary-type real-time PCR system, a LightCycler real-time PCR system, and plasmid DNA as the reference standard. In addition, we showed for the first time that the plasmid and genomic DNA should be similar in the established detection system because the PCR efficiencies of using plasmid DNA and using genomic DNA were not significantly different. The conversion factor (Cf) to calculate RRS content (%) was further determined from the average value analyzed in three laboratories. The accuracy and reproducibility of this system for RRS quantification at a level of 5.0% were within a range from 4.46 to 5.07% for RRS content and within a range from 2.0% to 7.0% for the relative standard deviation (RSD) value, respectively. This system rapidly monitored the labeling system and had allowable levels of accuracy and precision.

  10. Genetic counseling

    Science.gov (United States)

    ... have a high risk of having babies with Tay-Sachs or Canavan's disease. African-Americans, who may risk ... yours to make. Images Genetic counseling and prenatal diagnosis References Simpson JL, Holzgreve W, Driscoll DA. Genetic ...

  11. Experimental Research on Destruction Mode and Anchoring Performance of Carbon Fiber Phyllostachys pubescens Anchor Rod with Different Forms

    Directory of Open Access Journals (Sweden)

    Wang Yulan

    2018-01-01

    Full Text Available The anchoring technology is extensively applied in reinforcing protection of the earth relics. Now that no specification is available for different new anchor rods in earth relics protection due to diversified destruction modes of earth relics and complexity of engineering technology conditions, it is urgent to guide reinforcing design and construction with a complete detailed anchor rod research document. With the new carbon fiber Phyllostachys pubescens anchor rod as the research object, six lots of in situ tests are designed to, respectively, study the destruction mode and anchoring performance of the carbon fiber Phyllostachys pubescens anchor rod under different anchor length L, anchor rod diameter D, bore diameter H, grouting material S, rib spacing R, and inclination angle A in this paper. By studying load shift curve experiment in drawing of the anchor rod, the destruction mode and ultimate bearing capacity of the carbon fiber Phyllostachys pubescens anchor rod in different experiment lots are obtained, and the concept of permitted application value N in anchor rod design is proposed. By studying strain distribution characteristics of anchor rods in experimental lots along the length direction under action of the permitted application value N and combining the existing destruction mode and ultimate bearing capacity, this paper analyzes influences of L, D, H, S, R, and A on anchoring effect of the carbon fiber Phyllostachys pubescens anchor rod; gives the reasonable value range of L, D, H, and R when the carbon fiber Phyllostachys pubescens anchor rod is used for reinforcing design of the earth relics; and provides favorable experiment basis for reinforcing design of the earth relics based on the carbon fiber Phyllostachys pubescens anchor rod.

  12. Development of a Genetic Map for Onion (Allium cepa L. Using Reference-Free Genotyping-by-Sequencing and SNP Assays

    Directory of Open Access Journals (Sweden)

    Jinkwan Jo

    2017-09-01

    Full Text Available Single nucleotide polymorphisms (SNPs play important roles as molecular markers in plant genomics and breeding studies. Although onion (Allium cepa L. is an important crop globally, relatively few molecular marker resources have been reported due to its large genome and high heterozygosity. Genotyping-by-sequencing (GBS offers a greater degree of complexity reduction followed by concurrent SNP discovery and genotyping for species with complex genomes. In this study, GBS was employed for SNP mining in onion, which currently lacks a reference genome. A segregating F2 population, derived from a cross between ‘NW-001’ and ‘NW-002,’ as well as multiple parental lines were used for GBS analysis. A total of 56.15 Gbp of raw sequence data were generated and 1,851,428 SNPs were identified from the de novo assembled contigs. Stringent filtering resulted in 10,091 high-fidelity SNP markers. Robust SNPs that satisfied the segregation ratio criteria and with even distribution in the mapping population were used to construct an onion genetic map. The final map contained eight linkage groups and spanned a genetic length of 1,383 centiMorgans (cM, with an average marker interval of 8.08 cM. These robust SNPs were further analyzed using the high-throughput Fluidigm platform for marker validation. This is the first study in onion to develop genome-wide SNPs using GBS. The resulting SNP markers and developed linkage map will be valuable tools for genetic mapping of important agronomic traits and marker-assisted selection in onion breeding programs.

  13. A general pipeline for the development of anchor markers for comparative genomics in plants

    Directory of Open Access Journals (Sweden)

    Stougaard Jens

    2006-08-01

    Full Text Available Abstract Background Complete or near-complete genomic sequence information is presently only available for a few plant species representing a large phylogenetic diversity among plants. In order to effectively transfer this information to species lacking sequence information, comparative genomic tools need to be developed. Molecular markers permitting cross-species mapping along co-linear genomic regions are central to comparative genomics. These "anchor" markers, defining unique loci in genetic linkage maps of multiple species, are gene-based and possess a number of features that make them relatively sparse. To identify potential anchor marker sequences more efficiently, we have established an automated bioinformatic pipeline that combines multi-species Expressed Sequence Tags (EST and genome sequence data. Results Taking advantage of sequence data from related species, the pipeline identifies evolutionarily conserved sequences that are likely to define unique orthologous loci in most species of the same phylogenetic clade. The key features are the identification of evolutionarily conserved sequences followed by automated design of intron-flanking Polymerase Chain Reaction (PCR primer pairs. Polymorphisms can subsequently be identified by size- or sequence variation of PCR products, amplified from mapping parents or populations. We illustrate our procedure in legumes and grasses and exemplify its application in legumes, where model plant studies and the genome- and EST-sequence data available have a potential impact on the breeding of crop species and on our understanding of the evolution of this large and diverse family. Conclusion We provide a database of 459 candidate anchor loci which have the potential to serve as map anchors in more than 18,000 legume species, a number of which are of agricultural importance. For grasses, the database contains 1335 candidate anchor loci. Based on this database, we have evaluated 76 candidate anchor loci

  14. Mechanical Characteristics Analysis of Surrounding Rock on Anchor Bar Reinforcement

    Science.gov (United States)

    Gu, Shuan-cheng; Zhou, Pan; Huang, Rong-bin

    2018-03-01

    Through the homogenization method, the composite of rock and anchor bar is considered as the equivalent material of continuous, homogeneous, isotropic and strength parameter enhancement, which is defined as reinforcement body. On the basis of elasticity, the composite and the reinforcement are analyzed, Based on strengthening theory of surrounding rock and displacement equivalent conditions, the expression of reinforcement body strength parameters and mechanical parameters is deduced. The example calculation shows that the theoretical results are close to the results of the Jia-mei Gao[9], however, closer to the results of FLAC3D numerical simulation, it is proved that the model and surrounding rock reinforcement body theory are reasonable. the model is easy to analyze and calculate, provides a new way for determining reasonable bolt support parameters, can also provides reference for the stability analysis of underground cavern bolting support.

  15. Measures for the Safe Operation of Anchoring in a Storm

    Science.gov (United States)

    Han, Tianding; Ai, Wanzheng

    2018-01-01

    The collision and stranding of ship other shipwreck accidents are mainly caused by the ship dragging. As the water is less in coastal areas, anchoring has less influence on cementing ship, so strong wind is the most important factor for ship anchoring. Therefore, it is very important to study the safety evaluation of mooring in strong wind. In this paper, the measures taken after the ship anchoring is come up with from the analysis on the typical accidents and causes of anchoring security. The safety measures at the time of anchoring are also studied.

  16. Comparative Study on Different Slot Forms of Prestressed Anchor Blocks

    Science.gov (United States)

    Fan, Rong; Si, Jianhui; Jian, Zheng

    2018-03-01

    In this paper, two models of prestressed pier, rectangular cavity anchor block and arch hollow anchor block are established. The ABAQUS software was used to calculate the stress of the surface of the neck of the pier and the cavity of the anchor block, through comparative analysis. The results show that compared with the rectangular cavity anchor block, the stress of the pier and the cavity can be effectively reduced when the arch hole is used, and the amount of prestressed anchor can be reduced, so as to obtain obvious economic benefits.

  17. Composite materials formed with anchored nanostructures

    Science.gov (United States)

    Seals, Roland D; Menchhofer, Paul A; Howe, Jane Y; Wang, Wei

    2015-03-10

    A method of forming nano-structure composite materials that have a binder material and a nanostructure fiber material is described. A precursor material may be formed using a mixture of at least one metal powder and anchored nanostructure materials. The metal powder mixture may be (a) Ni powder and (b) NiAl powder. The anchored nanostructure materials may comprise (i) NiAl powder as a support material and (ii) carbon nanotubes attached to nanoparticles adjacent to a surface of the support material. The process of forming nano-structure composite materials typically involves sintering the mixture under vacuum in a die. When Ni and NiAl are used in the metal powder mixture Ni.sub.3Al may form as the binder material after sintering. The mixture is sintered until it consolidates to form the nano-structure composite material.

  18. Chemical biology of Glycosylphosphatidylinositol (GPI) anchors

    Indian Academy of Sciences (India)

    Admin

    CSIR-IIIM. Chemical biology of GPI anchors. • Organic synthesis, biosynthesis and cell biology of PI/GPI molecules. • Design and synthesis of structural and functional mimics of. PI/GPI t b bi l i l ti. PI/GPIs to probe biological questions. • Targeting PI3K/AKT/mTOR pathway for anticancer drug discovery. • Role of PI3K isoforms ...

  19. Electropermanent magnetic anchoring for surgery and endoscopy.

    Science.gov (United States)

    Tugwell, Josef; Brennan, Philip; O'Shea, Conor; O'Donoghue, Kilian; Power, Timothy; O'Shea, Michael; Griffiths, James; Cahill, Ronan; Cantillon-Murphy, Padraig

    2015-03-01

    The use of magnets for anchoring of instrumentation in minimally invasive surgery and endoscopy has become of increased interest in recent years. Permanent magnets have significant advantages over electromagnets for these applications; larger anchoring and retraction force for comparable size and volume without the need for any external power supply. However, permanent magnets represent a potential hazard in the operating field where inadvertent attraction to surgical instrumentation is often undesirable. The current work proposes an interesting hybrid approach which marries the high forces of permanent magnets with the control of electromagnetic technology including the ability to turn the magnet OFF when necessary. This is achieved through the use of an electropermanent magnet, which is designed for surgical retraction across the abdominal and gastric walls. Our electropermanent magnet, which is hand-held and does not require continuous power, is designed with a center lumen which may be used for trocar or needle insertion. The device in this application has been demonstrated successfully in the porcine model where coupling between an intraluminal ring magnet and our electropermanent magnet facilitated guided insertion of an 18 Fr Tuohy needle for guidewire placement. Subsequent investigations have demonstrated the ability to control the coupling distance of the system alleviating shortcomings with current methods of magnetic coupling due to variation in transabdominal wall thicknesses. With further refinement, the magnet may find application in the anchoring of endoscopic and surgical instrumentation for minimally invasive interventions in the gastrointestinal tract.

  20. Anchored design of protein-protein interfaces.

    Directory of Open Access Journals (Sweden)

    Steven M Lewis

    Full Text Available Few existing protein-protein interface design methods allow for extensive backbone rearrangements during the design process. There is also a dichotomy between redesign methods, which take advantage of the native interface, and de novo methods, which produce novel binders.Here, we propose a new method for designing novel protein reagents that combines advantages of redesign and de novo methods and allows for extensive backbone motion. This method requires a bound structure of a target and one of its natural binding partners. A key interaction in this interface, the anchor, is computationally grafted out of the partner and into a surface loop on the design scaffold. The design scaffold's surface is then redesigned with backbone flexibility to create a new binding partner for the target. Careful choice of a scaffold will bring experimentally desirable characteristics into the new complex. The use of an anchor both expedites the design process and ensures that binding proceeds against a known location on the target. The use of surface loops on the scaffold allows for flexible-backbone redesign to properly search conformational space.This protocol was implemented within the Rosetta3 software suite. To demonstrate and evaluate this protocol, we have developed a benchmarking set of structures from the PDB with loop-mediated interfaces. This protocol can recover the correct loop-mediated interface in 15 out of 16 tested structures, using only a single residue as an anchor.

  1. Resisting anchoring effects: The roles of metric and mapping knowledge.

    Science.gov (United States)

    Smith, Andrew R; Windschitl, Paul D

    2015-10-01

    The biasing influence of anchors on numerical estimates is well established, but the relationship between knowledge level and the susceptibility to anchoring effects is less clear. In two studies, we addressed the potential mitigating effects of having knowledge in a domain on vulnerability to anchoring effects in that domain. Of critical interest was a distinction between two forms of knowledge-metric and mapping knowledge. In Study 1, participants who had studied question-relevant information-that is, high-knowledge participants-were less influenced by anchors than were participants who had studied irrelevant information. The results from knowledge measures suggested that the reduction in anchoring was tied to increases in metric rather than mapping knowledge. In Study 2, participants studied information specifically designed to influence different types of knowledge. As we predicted, increases in metric knowledge-and not mapping knowledge-led to reduced anchoring effects. Implications for debiasing anchoring effects are discussed.

  2. Robotic Ankle for Omnidirectional Rock Anchors

    Science.gov (United States)

    Parness, Aaron; Frost, Matthew; Thatte, Nitish

    2013-01-01

    Future robotic exploration of near-Earth asteroids and the vertical and inverted rock walls of lava caves and cliff faces on Mars and other planetary bodies would require a method of gripping their rocky surfaces to allow mobility without gravitational assistance. In order to successfully navigate this terrain and drill for samples, the grippers must be able to produce anchoring forces in excess of 100 N. Additionally, the grippers must be able to support the inertial forces of a moving robot, as well gravitational forces for demonstrations on Earth. One possible solution would be to use microspine arrays to anchor to rock surfaces and provide the necessary load-bearing abilities for robotic exploration of asteroids. Microspine arrays comprise dozens of small steel hooks supported on individual suspensions. When these arrays are dragged along a rock surface, the steel hooks engage with asperities and holes on the surface. The suspensions allow for individual hooks to engage with asperities while the remaining hooks continue to drag along the surface. This ensures that the maximum possible number of hooks engage with the surface, thereby increasing the load-bearing abilities of the gripper. Using the microspine array grippers described above as the end-effectors of a robot would allow it to traverse terrain previously unreachable by traditional wheeled robots. Furthermore, microspine-gripping robots that can perch on cliffs or rocky walls could enable a new class of persistent surveillance devices for military applications. In order to interface these microspine grippers with a legged robot, an ankle is needed that can robotically actuate the gripper, as well as allow it to conform to the large-scale irregularities in the rock. The anchor serves three main purposes: deploy and release the anchor, conform to roughness or misalignment with the surface, and cancel out any moments about the anchor that could cause unintentional detachment. The ankle design contains a

  3. Genetics Home Reference: Leigh syndrome

    Science.gov (United States)

    ... by progressive loss of mental and movement abilities (psychomotor regression) and typically results in death within two ... Can changes in mitochondrial DNA affect health and development? More about Mutations and Health Inheritance Pattern Leigh ...

  4. Genetics Home Reference: clopidogrel resistance

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    ... Facebook Twitter Home Health Conditions Clopidogrel resistance Clopidogrel resistance Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Clopidogrel resistance is a condition in which the drug clopidogrel ...

  5. Genetics Home Reference: warfarin resistance

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    ... Facebook Twitter Home Health Conditions Warfarin resistance Warfarin resistance Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Warfarin resistance is a condition in which individuals have a ...

  6. Genetics Home Reference: acromicric dysplasia

    Science.gov (United States)

    ... into the extracellular matrix, which is an intricate lattice of proteins and other molecules that forms in ... MP, Zackai E, Russell K, Finidori G, Pouliquen JC, Munnich A, Maroteaux P, Cormier-Daire V. Acromicric ...

  7. Genetics Home Reference: KBG syndrome

    Science.gov (United States)

    ... syndrome Patient Support and Advocacy Resources (8 links) American Association on Intellectual and Developmental Disabilities Children's Craniofacial Association Human Growth Foundation KBG Foundation ...

  8. Genetics Home Reference: transcobalamin deficiency

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    ... Deficiency Patient Support and Advocacy Resources (3 links) American Association on Intellectual and Developmental Disabilities (AAIDD) CLIMB: Children Living with Inherited Metabolic Diseases ( ...

  9. Genetics Home Reference: Kleefstra syndrome

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    ... PDF) Patient Support and Advocacy Resources (6 links) American Association on Intellectual and Developmental Disabilities Chromosome Disorder Outreach GeneSpark.org Kleefstra Syndrome Community ...

  10. Genetics Home Reference: encephalocraniocutaneous lipomatosis

    Science.gov (United States)

    ... American Brain Tumor Association: Glioma American Brain Tumor Association: Lipoma American Epilepsy Society The Arc: For People with Intellectual and Developmental Disabilities Scientific Articles on PubMed (1 link) PubMed OMIM ( ...

  11. Genetics Home Reference: Arts syndrome

    Science.gov (United States)

    ... atrophy Patient Support and Advocacy Resources (5 links) American Foundation for the Blind Hearing Health Foundation National Association of the Deaf National Ataxia Foundation The Arc: For People with Intellectual and Developmental Disabilities GeneReviews (1 link) Arts Syndrome ClinicalTrials.gov (1 ...

  12. Genetics Home Reference: fumarase deficiency

    Science.gov (United States)

    ... reactions known as the citric acid cycle or Krebs cycle, which allows cells to use oxygen and generate ... with the function of this reaction in the citric acid cycle. Impairment of the process that generates energy for ...

  13. Genetics Home Reference: Poland syndrome

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Poland syndrome Poland syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Poland syndrome is a disorder in which affected individuals ...

  14. Genetics Home Reference: spina bifida

    Science.gov (United States)

    ... not stick out through an opening in the spine. Spina bifida occulta most often causes no health problems, although ... Other Names for This Condition cleft spine open spine rachischisis spinal dysraphism Related ... Spina Bifida (Image) Health Topic: Neural Tube Defects Health Topic: ...

  15. Genetics Home Reference: tetrahydrobiopterin deficiency

    Science.gov (United States)

    ... condition also alters the levels of chemicals called neurotransmitters , which transmit signals between nerve cells in the ... It is also involved in the production of neurotransmitters . If one of the enzymes fails to function ...

  16. Genetics Home Reference: Refsum disease

    Science.gov (United States)

    ... coordination (ataxia); hearing loss; and dry, scaly skin (ichthyosis). Additionally, some people with Refsum disease develop an ... links) Foundation Fighting Blindness: Retinitis Pigmentosa Foundation for Ichthyosis & Related Skin Types National Organization for Rare Disorders ( ...

  17. Genetics Home Reference: Netherton syndrome

    Science.gov (United States)

    ... experience outbreaks of a distinctive skin abnormality called ichthyosis linearis circumflexa, involving patches of multiple ring-like ... syndrome ichthyosiform erythroderma with hypotrichosis and hyper-IgE ichthyosis linearis circumflexa ILC NETH Netherton disease NS Related ...

  18. Genetics Home Reference: lamellar ichthyosis

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    ... Facebook Twitter Home Health Conditions Lamellar ichthyosis Lamellar ichthyosis Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Lamellar ichthyosis is a condition that mainly affects the skin . ...

  19. Genetics Home Reference: Cole disease

    Science.gov (United States)

    ... Cole disease Educational Resources (3 links) Foundation for Ichthyosis and Related Skin Types: Palmoplantar Keratoderma Ichthyosis Support Group: Palmoplantar Keratoderma (PDF) MalaCards: cole disease ...

  20. Genetics Home Reference: Vohwinkel syndrome

    Science.gov (United States)

    ... skin features also include widespread dry, scaly skin (ichthyosis), especially on the limbs. The ichthyosis is usually mild, and there may also be ... thinner than normal in affected individuals, resulting in ichthyosis and the other skin abnormalities associated with the ...

  1. Genetics Home Reference: epidermal nevus

    Science.gov (United States)

    ... Epidermal Nevus Disease InfoSearch: Epidermal nevus Foundation for Ichthyosis and Related Skin Types (FIRST): Epidermal Nevus Fact ... Support and Advocacy Resources (3 links) Foundation for Ichthyosis and Related Skin Types (FIRST) National Organization for ...

  2. Genetics Home Reference: episodic ataxia

    Science.gov (United States)

    ... 5 links) Consortium for Clinical Investigations of Neurological Channelopathies (CINCH) GeneReview: Episodic Ataxia Type 1 GeneReview: Episodic ... MG. Episodic ataxia type 1: a neuronal potassium channelopathy. Neurotherapeutics. 2007 Apr;4(2):258-66. Review. ...

  3. Genetics Home Reference: Lynch syndrome

    Science.gov (United States)

    ... features of neurofibromatosis in HNPCC families with homozygous mismatch repair gene mutations. Fam Cancer. 2005;4(4):323-33. ... of mismatch repair and the functional analysis of mismatch repair defects in Lynch syndrome. Fam Cancer. 2013 ... P. Lynch syndrome genes. Fam Cancer. 2005;4(3):227-32. Review. ...

  4. Genetics Home Reference: beta thalassemia

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Beta thalassemia Beta thalassemia Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Beta thalassemia is a blood disorder that reduces the production ...

  5. Genetics Home Reference: Huntington disease

    Science.gov (United States)

    ... 381328-2.00015-8. Review. Citation on PubMed Kent A. Huntington's disease. Nurs Stand. 2004 Apr 21- ... Institutes of Health National Library of Medicine Lister Hill National Center for Biomedical Communications 8600 Rockville Pike, ...

  6. Genetics Home Reference: Turner syndrome

    Science.gov (United States)

    ... Sep 7. Citation on PubMed Hong D, Scaletta Kent J, Kesler S. Cognitive profile of Turner syndrome. Dev ... Institutes of Health National Library of Medicine Lister Hill National Center for Biomedical Communications 8600 Rockville Pike, ...

  7. Genetics Home Reference: Danon disease

    Science.gov (United States)

    ... requires the formation of cellular structures called autophagic vacuoles (or autophagosomes), which then attach (fuse) to lysosomes. ... may be involved in the fusion between autophagic vacuoles and lysosomes. Mutations in the LAMP2 gene lead ...

  8. Genetics Home Reference: antiphospholipid syndrome

    Science.gov (United States)

    ... Share: Email Facebook Twitter Home Health Conditions Antiphospholipid syndrome Antiphospholipid syndrome Printable PDF Open All Close All Enable ... area? Other Names for This Condition anti-phospholipid syndrome antiphospholipid antibody syndrome Hughes syndrome Related Information How are ...

  9. Genetics Home Reference: prion disease

    Science.gov (United States)

    ... which have overlapping signs and symptoms, include familial Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker syndrome (GSS), and fatal ... Sc . Sporadic forms of prion disease include sporadic Creutzfeldt-Jakob disease (sCJD), sporadic fatal insomnia (sFI), and variably protease- ...

  10. Genetics Home Reference: Jacobsen syndrome

    Science.gov (United States)

    ... unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have ... Jul 24. Citation on PubMed Coldren CD, Lai Z, Shragg P, Rossi E, Glidewell SC, Zuffardi O, ...

  11. Genetics Home Reference: gestational diabetes

    Science.gov (United States)

    ... percent of all pregnancies are affected by gestational diabetes . The prevalence of gestational diabetes has been increasing rapidly over the past few ... Pregnancy (PDF) U.S. Preventive Services Task Force: Gestational Diabetes Mellitus ... Formal Treatment/Management Guidelines (4 links) Joslin Diabetes Center and ...

  12. Genetics Home Reference: Usher syndrome

    Science.gov (United States)

    ... speech, and becomes more severe over time. By middle age, most affected individuals have profound hearing loss. Vision ... What is precision medicine? What is newborn screening? New Pages RAB18 deficiency Depression Pelizaeus-Merzbacher-like disease ...

  13. Genetics Home Reference: prostate cancer

    Science.gov (United States)

    ... a common disease that affects men, usually in middle age or later. In this disorder, certain cells in ... What is precision medicine? What is newborn screening? New Pages RAB18 deficiency Depression Pelizaeus-Merzbacher-like disease ...

  14. Genetics Home Reference: transthyretin amyloidosis

    Science.gov (United States)

    ... the brain, an accumulation of fluid in the brain (hydrocephalus), difficulty coordinating movements (ataxia), muscle stiffness and weakness (spastic paralysis), seizures, and loss of intellectual function (dementia). Eye ...

  15. Genetics Home Reference: Alagille syndrome

    Science.gov (United States)

    ... abnormalities. This combination of heart defects is called tetralogy of Fallot . People with Alagille syndrome may have distinctive facial ... the disorder, such as a heart defect like tetralogy of Fallot, or a characteristic facial appearance. These individuals do ...

  16. Genetics Home Reference: Werner syndrome

    Science.gov (United States)

    ... United States. This syndrome occurs more often in Japan, affecting 1 in 20,000 to 1 in ... Reviewed : December 2012 Published : March 6, 2018 The resources on this site should not be used as a substitute for ... of Health & Human Services National Institutes of Health National Library of ...

  17. Genetics Home Reference: hereditary pancreatitis

    Science.gov (United States)

    ... hereditary pancreatitis: a population-based cohort study in Denmark. Am J Gastroenterol. 2010 Aug;105(8):1876- ... Hammel P, Ruszniewski P, Lévy P. The natural history of hereditary pancreatitis: a national series. Gut. 2009 ...

  18. Genetics Home Reference: Carpenter syndrome

    Science.gov (United States)

    ... However, some individuals with this condition have normal intelligence. The cause of intellectual disability is unknown, as ... the heart on the right side of the body instead of on the left; or only the ...

  19. Genetics Home Reference: Myhre syndrome

    Science.gov (United States)

    ... motor skills such as crawling and walking. Although intelligence can be normal in affected individuals, most have ... the skin thickens on other parts of the body. As a result of the thicker skin, affected ...

  20. Genetics Home Reference: dyskeratosis congenita

    Science.gov (United States)

    ... While most people with dyskeratosis congenita have normal intelligence and development of motor skills such as standing ... of problems affecting quickly dividing cells in the body such as cells of the nail beds, hair ...

  1. Genetics Home Reference: lactose intolerance

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Lactose intolerance Lactose intolerance Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Lactose intolerance is an impaired ability to digest lactose, ...

  2. Genetics Home Reference: Wilson disease

    Science.gov (United States)

    ... the liver, brain, and eyes. The signs and symptoms of Wilson disease usually first appear between the ages of 6 ... adulthood and commonly occur in young adults with Wilson disease . Signs and symptoms of these problems can include clumsiness, tremors, difficulty ...

  3. Genetics Home Reference: ulcerative colitis

    Science.gov (United States)

    ... colitis Orphanet: NON RARE IN EUROPE: Ulcerative colitis University of Maryland Medical Center ... Sources for This Page Anderson CA, Boucher G, Lees CW, Franke A, D'Amato M, Taylor KD, Lee JC, Goyette P, Imielinski M, Latiano ...

  4. Genetics Home Reference: fundus albipunctatus

    Science.gov (United States)

    ... that play roles in the visual cycle. An integral operation of the visual cycle is the recycling ... cis retinal. Without this important molecule, electrical signals integral for vision are not stimulated, and vision is ...

  5. Genetics Home Reference: cranioectodermal dysplasia

    Science.gov (United States)

    ... function of one of the IFT-A subunits. Shortage or abnormal function of a single component of ... of bone, ectodermal tissues, and other tissues and organs, leading to the features of cranioectodermal dysplasia . About ...

  6. Genetics Home Reference: glycine encephalopathy

    Science.gov (United States)

    ... the brain. Glycine encephalopathy is caused by the shortage of an enzyme that normally breaks down glycine in the body. A lack of this enzyme allows excess glycine to build up in tissues and organs, particularly the brain, leading to serious medical problems. ...

  7. Genetics Home Reference: hereditary hemochromatosis

    Science.gov (United States)

    ... experience delayed puberty or symptoms related to a shortage of sex hormones. If the disorder is untreated, ... As a result, iron accumulates in tissues and organs, which can disrupt their normal functions. Learn more ...

  8. Genetics Home Reference: dermatofibrosarcoma protuberans

    Science.gov (United States)

    ... formation seen in dermatofibrosarcoma protuberans . The COL1A1-PDGFB fusion gene is found in more than 90 percent of ... Ialpha1/platelet-derived growth factor (PDGF) B-chain fusion gene generates a transforming protein that is processed to ...

  9. Genetics Home Reference: oculocutaneous albinism

    Science.gov (United States)

    ... Americans, some Native American groups, and people from sub-Saharan Africa. Type 3, specifically rufous oculocutaneous albinism , has been ... personal health condition should consult with a qualified healthcare professional . About Selection Criteria for Links Data Files & ...

  10. Genetics Home Reference: multiple sclerosis

    Science.gov (United States)

    ... closer to the equator, such as in Asia, sub-Saharan Africa, and parts of South America, where about 1 ... personal health condition should consult with a qualified healthcare professional . About Selection Criteria for Links Data Files & ...

  11. Genetics Home Reference: Rett syndrome

    Science.gov (United States)

    ... months of apparently normal development before developing severe problems with language and communication, learning, coordination, and other brain functions. Early in childhood, affected girls lose purposeful use of their hands ...

  12. Genetics Home Reference: Bloom syndrome

    Science.gov (United States)

    ... 1 link) Bloom syndrome Sources for This Page Amor-Guéret M. Bloom syndrome, genomic instability and cancer: ... Zhang B, Zhang XD, Dou SX, Wang PY, Amor-Gueret M, Xi XG. Structural and functional analyses ...

  13. Genetics Home Reference: Alport syndrome

    Science.gov (United States)

    ... Martin P, Hertz JM, Schröder C, Sanak M, Carvalho MF, Saus J, Antignac C, Smeets H, Gubler ... P, Hertz JM, Schröder C, Sanak M, Krejcova S, Carvalho MF, Saus J, Antignac C, Smeets H, Gubler ...

  14. Genetics Home Reference: Friedreich ataxia

    Science.gov (United States)

    ... Resources (9 links) Ataxia UK Brain Foundation (Australia) Christopher and Dana Reeve Paralysis Resource Center European Federation ... Institutes of Health National Library of Medicine Lister Hill National Center for Biomedical Communications 8600 Rockville Pike, ...

  15. Genetics Home Reference: Gitelman syndrome

    Science.gov (United States)

    ... a potentially dangerous abnormal heart rhythm called ventricular arrhythmia. The signs and symptoms of Gitelman syndrome vary ... Celebrates Its 15th Anniversary National DNA Day 2018 Newborn Screening Saves Lives Act Turns 10 All Bulletins ...

  16. Genetics Home Reference: Timothy syndrome

    Science.gov (United States)

    ... calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell. 2004 Oct 1;119(1):19-31. ... DNA Day 2018 Newborn Screening Saves Lives Act Turns 10 All Bulletins ...

  17. Genetics Home Reference: Costello syndrome

    Science.gov (United States)

    ... Heart problems are common, including an abnormal heartbeat (arrhythmia), structural heart defects, and a type of heart ... Celebrates Its 15th Anniversary National DNA Day 2018 Newborn Screening Saves Lives Act Turns 10 All Bulletins ...

  18. Genetics Home Reference: Gorlin syndrome

    Science.gov (United States)

    ... may obstruct blood flow or cause irregular heartbeats (arrhythmia). Ovarian fibromas are not thought to affect a ... Celebrates Its 15th Anniversary National DNA Day 2018 Newborn Screening Saves Lives Act Turns 10 All Bulletins ...

  19. Genetics Home Reference: amelogenesis imperfecta

    Science.gov (United States)

    ... of Tooth Disorders Orphanet: Amelogenesis imperfecta School of Dentistry, University of North Carolina at Chapel Hill Patient ... of Medicine Lister Hill National Center for Biomedical Communications 8600 Rockville Pike, Bethesda, MD 20894, USA HONCode ...

  20. Genetics Home Reference: dentinogenesis imperfecta

    Science.gov (United States)

    ... 2 Orphanet: Dentinogenesis imperfecta type 3 School of Dentistry, University of North Carolina at Chapel Hill Patient ... of Medicine Lister Hill National Center for Biomedical Communications 8600 Rockville Pike, Bethesda, MD 20894, USA HONCode ...

  1. Genetics Home Reference: cystic fibrosis

    Science.gov (United States)

    ... Share: Email Facebook Twitter Home Health Conditions Cystic fibrosis Cystic fibrosis Printable PDF Open All Close All Enable Javascript ... lung damage, including the formation of scar tissue (fibrosis) and cysts in the lungs. Most people with cystic fibrosis ...

  2. Genetics Home Reference: lung cancer

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    ... and a history of lung disease such as tuberculosis, emphysema, or chronic bronchitis. A history of lung ... Cancer Society: Cancer Facts & Figures 2017 (PDF) Byers LA, Rudin CM. Small cell lung cancer: where do ...

  3. Genetics Home Reference: lipoid proteinosis

    Science.gov (United States)

    ... damage appears more frequently on areas that experience friction, such as the hands, elbows, knees, buttocks, and ... in lipoid proteinosis or Urbach-Wiethe disease: case report and review of the literature. Orbit. 2011 Oct; ...

  4. Genetics Home Reference: pachyonychia congenita

    Science.gov (United States)

    ... easily damaged, making the skin less resistant to friction and minor trauma. Even normal activities such as ... E, Schwartz ME, Rittié L. Pachyonychia congenita cornered: report on the 11th Annual International Pachyonychia Congenita Consortium ...

  5. Genetics Home Reference: Cowden syndrome

    Science.gov (United States)

    ... often beginning in their thirties or forties. Other diseases of the breast, thyroid, and endometrium are also common in Cowden syndrome . Additional signs and symptoms can include an enlarged head ( macrocephaly ) and a ...

  6. Genetics Home Reference: familial cylindromatosis

    Science.gov (United States)

    ... growths called spiradenomas and trichoepitheliomas. Spiradenomas begin in sweat glands. Trichoepitheliomas arise from hair follicles. The tumors associated with familial cylindromatosis are generally noncancerous (benign), ...

  7. Genetics Home Reference: cardiofaciocutaneous syndrome

    Science.gov (United States)

    ... This Page Allanson JE, Annerén G, Aoki Y, Armour CM, Bondeson ML, Cave H, Gripp KW, Kerr ... on PubMed or Free article on PubMed Central Armour CM, Allanson JE. Further delineation of cardio-facio- ...

  8. Genetics Home Reference: Tourette syndrome

    Science.gov (United States)

    ... or noises called tics. Tics usually appear in childhood, and their severity varies over time. In most cases, tics become milder and less frequent in late adolescence and adulthood. Tourette syndrome involves both motor tics, ...

  9. Genetics Home Reference: Gillespie syndrome

    Science.gov (United States)

    ... and coordinating movements (ataxia), and mild to moderate intellectual disability. Gillespie syndrome is characterized by aniridia , which is ... Other Names for This Condition aniridia-cerebellar ataxia-intellectual disability aniridia-cerebellar ataxia-mental deficiency aniridia, cerebellar ataxia, ...

  10. Genetics Home Reference: hereditary angioedema

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions Hereditary angioedema Hereditary angioedema Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Hereditary angioedema is a disorder characterized by recurrent episodes of ...

  11. Genetics Home Reference: Miyoshi myopathy

    Science.gov (United States)

    ... affected, the calves appear different in size (asymmetrical). Calf weakness can make it difficult to stand on tiptoe. As Miyoshi myopathy slowly worsens, the muscle weakness and atrophy spread up the leg to ...

  12. Genetics Home Reference: prothrombin thrombophilia

    Science.gov (United States)

    ... second most common inherited form of thrombophilia after factor V Leiden thrombophilia . Approximately 1 in 50 people in the ... Richards CS. Technical standards and guidelines: venous thromboembolism (Factor V Leiden and prothrombin 20210G >A testing): a disease-specific ...

  13. Genetics Home Reference: schizoaffective disorder

    Science.gov (United States)

    ... psychosis in people with schizoaffective disorder include false perceptions called hallucinations, such as hearing voices no one else can hear or experiencing visions, smells, or tactile (touch) sensations. Strongly held false beliefs (delusions) are also a ...

  14. Genetics Home Reference: breast cancer

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Breast cancer Breast cancer Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Breast cancer is a disease in which certain cells in ...

  15. Genetics Home Reference: Marfan syndrome

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    ... Email Facebook Twitter Home Health Conditions Marfan syndrome Marfan syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Marfan syndrome is a disorder that affects the connective tissue ...

  16. Genetics Home Reference: Carney complex

    Science.gov (United States)

    ... National Institute of Diabetes and Digestive and Kidney Diseases: Cushing's Syndrome Educational Resources (5 links) MalaCards: carney complex variant MalaCards: carney complex, type 1 Merck Manual Home ... disease type 1 GABA-transaminase deficiency All New & Updated ...

  17. Genetics Home Reference: Cushing disease

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    ... Email Facebook Twitter Home Health Conditions Cushing disease Cushing disease Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Cushing disease is caused by elevated levels of a hormone ...

  18. Genetics Home Reference: neuromyelitis optica

    Science.gov (United States)

    ... expand/collapse boxes. Description Neuromyelitis optica is an autoimmune disorder that affects the nerves of the eyes and ... system, which includes the brain and spinal cord. Autoimmune disorders occur when the immune system malfunctions and attacks ...

  19. Genetics Home Reference: familial dysautonomia

    Science.gov (United States)

    ... to the senses, such as taste and the perception of pain, heat, and cold. Familial dysautonomia is ... periods of time, which may cause a bluish appearance of the skin or lips (cyanosis) or fainting. ...

  20. Genetics Home Reference: frontometaphyseal dysplasia

    Science.gov (United States)

    ... which helps build the network of protein filaments ( cytoskeleton ) that gives structure to cells and allows them to change shape and move. ... branching network of filaments that make up the cytoskeleton. Filamin A also links ... within the cell. A small number of mutations in the FLNA ...