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Sample records for nondisjunction genetic

  1. Mutation studies upon spermatogonial stem cells of mammals and genetic tests for non-disjunction in the mouse

    International Nuclear Information System (INIS)

    Cattanach, B.M.

    1993-01-01

    Studies upon strain differences in genetic response to radiation may facilitate extrapolation of mouse data to man. The objective of the project is to investigate the basis of the genetic responses obtained with different treatment regimes. Two systems of genetic (complementation) tests were developed using Robertsonian translocations in tester animals to detect non-disjunction and chromosome loss events in normal mice. The aim is to evaluate the two methods for detecting chromosome 11 loss, and compare the frequency of chromosomes 11 and 13 loss following X-irradiation of males and females. (R.P.) 6 refs., 3 tabs

  2. Analysis of mitotic nondisjunction with Aspergillus nidulans.

    Science.gov (United States)

    Morpurgo, G; Bellincampi, D; Gualandi, G; Baldinelli, L; Crescenzi, O S

    1979-08-01

    Two methods to detect the induction of nondisjunction with a diploid stable strain of A. nidulans are described. The first method gives only qualitative results, while the second method is quantitative and dose-effect curves can be done. Some physiological parameters affecting the induction of nondisjunction can also be studied, because either quiescent or germinating conidia can be treated with the drug under test. Some agents inducing nondisjunction were also tested for the induction of point mutation and somatic crossing-over with these comparative analysis. Two classes of agents inducing nondisjunction may be detected: the first causes all possible types of genetic damage either on quiescent or germinating conidia (a representative of this class is MMS) and acts presumably on the DNA level; the second acts only on germinating conidia and does not produce point mutation or crossing over. A representative of this class is Benomyl which interferes with spindle microtubules. A list of compounds tests is included.

  3. Radiation-induced nondisjunction

    International Nuclear Information System (INIS)

    Uchida, I.A.

    1979-01-01

    The methodology and results of epidemiological studies of the effects of preconception diagnostic x-rays of the abdomen on chromosome segregation in humans are described. The vast majority of studies show the same positive, though not significant, trend to increased nondisjunction among the offspring of irradiated women. The results of the various studies, however, cannot be pooled because of differing methodologies used. Abnormal chromosome segregation during mitotic division has been inducted experimentally by the in vitro exposure of human lymphocytes to a low dose of 50 R gamma irradiation. First meiotic nondisjunction has been successfully induced by whole body exposure of female mice to a low dose of radiation. The question of time-related repair of the mechanism involved in chromosome segregation is raised

  4. Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism.

    Science.gov (United States)

    Karadima, G; Bugge, M; Nicolaidis, P; Vassilopoulos, D; Avramopoulos, D; Grigoriadou, M; Albrecht, B; Passarge, E; Annerén, G; Blennow, E; Clausen, N; Galla-Voumvouraki, A; Tsezou, A; Kitsiou-Tzeli, S; Hahnemann, J M; Hertz, J M; Houge, G; Kuklík, M; Macek, M; Lacombe, D; Miller, K; Moncla, A; López Pajares, I; Patsalis, P C; Petersen, M B

    1998-01-01

    Causes of chromosomal nondisjunction is one of the remaining unanswered questions in human genetics. In order to increase our understanding of the mechanisms underlying nondisjunction we have performed a molecular study on trisomy 8 and trisomy 8 mosaicism. We report the results on analyses of 26 probands (and parents) using 19 microsatellite DNA markers mapping along the length of chromosome 8. The 26 cases represented 20 live births, four spontaneous abortions, and two prenatal diagnoses (CVS). The results of the nondisjunction studies show that 20 cases (13 maternal, 7 paternal) were probably due to mitotic (postzygotic) duplication as reduction to homozygosity of all informative markers was observed and as no third allele was ever detected. Only two cases from spontaneous abortions were due to maternal meiotic nondisjunction. In four cases we were not able to detect the extra chromosome due to a low level of mosaicism. These results are in contrast to the common autosomal trisomies (including mosaics), where the majority of cases are due to errors in maternal meiosis.

  5. Origin of meiotic nondisjunction in Drosophila females

    International Nuclear Information System (INIS)

    Grell, R.F.

    1978-01-01

    Meiotic nondisjunction can be induced by external agents, such as heat, radiation, and chemicals, and by internal genotypic alterations, namely, point mutations and chromosomal rearrangements. In many cases nondisjunction arises from a reduction or elimination of crossing-over, leading to the production of homologous univalents which fail to co-orient on the metaphase plate and to disjoin properly. In some organisms, e.g., Drosophila and perhaps man, distributive pairing [i.e., a post-exchange, size-dependent pairing] ensures the regular segregation of such homologous univalents. When a nonhomologous univalent is present, which falls within a size range permitting nonhomologous recognition and pairing, distributive nondisjunction of the homologues may follow. Examples of nondisjunction induced by inversion heterozygosity, translocation heterozygosity, chromosome fragments, radiation, heat, and recombination-defective mutants are presented

  6. Characterization of susceptible chiasma configurations that increase the risk for maternal nondisjunction of chromosome 21.

    Science.gov (United States)

    Lamb, N E; Feingold, E; Savage, A; Avramopoulos, D; Freeman, S; Gu, Y; Hallberg, A; Hersey, J; Karadima, G; Pettay, D; Saker, D; Shen, J; Taft, L; Mikkelsen, M; Petersen, M B; Hassold, T; Sherman, S L

    1997-09-01

    Recent studies of trisomy 21 have shown that altered levels of recombination are associated with maternal non-disjunction occurring at both meiosis I (MI) and meiosis II (MII). To comprehend better the association of recombination with nondisjunction, an understanding of the pattern of meiotic exchange, i.e. the exchange of genetic material at the four-strand stage during prophase, is required. We examined this underlying exchange pattern to determine if specific meiotic configurations are associated with a higher risk of non-disjunction than others. We examined the crossover frequencies of chromosome 21 for three populations: (i) normal female meiotic events; (ii) meiotic events leading to MI non-disjunction; and (iii) those leading to MII non-disjunction. From these crossover frequencies, we estimated the array of meiotic tetrads that produced the observed crossovers. Using this approach, we found that nearly one-half of MI errors were estimated to be achiasmate. The majority of the remaining MI bivalents had exchanges that clustered at the telomere. In contrast, exchanges occurring among MII cases clustered at the pericentromeric region of the chromosome. Unlike the single exchange distributions, double exchanges from the non-disjoined populations seemed to approximate the distribution in the normal population. These data suggest that the location of certain exchanges makes a tetrad susceptible to non-disjunction. Specifically, this susceptibility is associated with the distance between the centromere and closest exchange. This result challenges the widely held concept that events occurring at MII are largely independent of events occurring at MI, and suggests that all non-disjunction events may be initiated during MI and simply resolved at either of the two meiotic stages.

  7. Non-disjunction of chromosome 18

    DEFF Research Database (Denmark)

    Bugge, M; Collins, A; Petersen, M B

    1998-01-01

    A sample of 100 trisomy 18 conceptuses analysed separately and together with a published sample of 61 conceptuses confirms that an error in maternal meiosis II (MII) is the most frequent cause of non-disjunction for chromosome 18. This is unlike all other human trisomies that have been studied......, which show a higher frequency in maternal meiosis I (MI). Maternal MI trisomy 18 shows a low frequency of recombination in proximal p and medial q, but not the reduction in proximal q observed in chromosome 21 MI non-disjunction. Maternal MII non-disjunction does not fit the entanglement model...... that predicts increased recombination, especially near the centromere. Whereas recent data on MII trisomy 21 show the predicted increase in recombination proximally, maternal MII trisomy 18 has non-significantly reduced recombination. Therefore, chromosome-specific factors must complicate the simple model...

  8. New insights into human nondisjunction of chromosome 21 in oocytes.

    Directory of Open Access Journals (Sweden)

    Tiffany Renee Oliver

    2008-03-01

    Full Text Available Nondisjunction of chromosome 21 is the leading cause of Down syndrome. Two risk factors for maternal nondisjunction of chromosome 21 are increased maternal age and altered recombination. In order to provide further insight on mechanisms underlying nondisjunction, we examined the association between these two well established risk factors for chromosome 21 nondisjunction. In our approach, short tandem repeat markers along chromosome 21 were genotyped in DNA collected from individuals with free trisomy 21 and their parents. This information was used to determine the origin of the nondisjunction error and the maternal recombination profile. We analyzed 615 maternal meiosis I and 253 maternal meiosis II cases stratified by maternal age. The examination of meiosis II errors, the first of its type, suggests that the presence of a single exchange within the pericentromeric region of 21q interacts with maternal age-related risk factors. This observation could be explained in two general ways: 1 a pericentromeric exchange initiates or exacerbates the susceptibility to maternal age risk factors or 2 a pericentromeric exchange protects the bivalent against age-related risk factors allowing proper segregation of homologues at meiosis I, but not segregation of sisters at meiosis II. In contrast, analysis of maternal meiosis I errors indicates that a single telomeric exchange imposes the same risk for nondisjunction, irrespective of the age of the oocyte. Our results emphasize the fact that human nondisjunction is a multifactorial trait that must be dissected into its component parts to identify specific associated risk factors.

  9. Enhanced non-disjunction and recombination as consequences of γ-induced deficiencies in Petunia hybrida

    International Nuclear Information System (INIS)

    Cornu, A.; Maizonnier, D.

    1979-01-01

    Non-disjunction events, spontaneous or induced, are rather frequent in plants. In Petunia, no significant effect of γ-radiations was detected. However, the study of some monogametic mutants characterized by a terminal deletion showed that, at the level of the chromosome pair involved by this deletion, both the frequency of specific trisomics and the recombination fractions between 4 marker loci were considerably increased in the progeny of the mutants as compared with that of the control. These features, i.e. deletion-induced non-disjunction and recombination, may be considered as indirect effects of radiations. Generalization to other species may be of importance in the fields of mammalian genetics and plant breeding. (Auth.)

  10. Non-disjunction of chromosome 13

    DEFF Research Database (Denmark)

    Bugge, Merete; Collins, Andrew; Hertz, Jens Michael

    2007-01-01

    We performed a molecular study with 21 microsatellites on a sample of 82 trisomy 13 conceptuses, the largest number of cases studied to date. The parental origin was determined in every case and in 89% the extra chromosome 13 was of maternal origin with an almost equal number of maternal MI and MII...... recombination in both maternal MI and MII errors and the former is associated with a significant number of tetrads (33%) that are nullichiasmate, which do not appear to be a feature of normal chromosome 13 meiosis. This study supports the evidence for subtle chromosome-specific influences on the mechanisms...... that determine non-disjunction of human chromosomes, consistent with the diversity of findings for other trisomies. Udgivelsesdato: 2007-Aug-15...

  11. The induction of non-disjunction by irradiation in mammalian oogenesis and spermatogenesis

    International Nuclear Information System (INIS)

    Hansmann, I.; Probeck, H.D.

    1979-01-01

    Test systems to detect non-disjunction in oogenesis and spermatogenesis are described and the results obtained from a study of radiation effects on non-disjunction presented. It is shown that X-rays may induce non-disjunction in mouse oogenesis and spermatogenesis, thereby increasing the potential risk of aneuploidies among the F1 generation. (C.F.)

  12. Different test systems in Aspergillus nidulans for the evaluation of mitotic gene conversion, crossing-over and non-disjunction

    International Nuclear Information System (INIS)

    De Bertoldi, M.; Griselli, M.; Consiglio Nazionale delle Ricerche, Pisa; Barale, R.

    1980-01-01

    The wide variety of the genetic alterations produced by environmental mutagens has increased the necessity of using experimental microorganisms to reveal the induction of such genetic events with short-term tests. Aspergillus nidulans, because of its well-developed genetic system and the availability of morphological markers seay to score, can be profitably used in mutagen testing. The constitution of particular diploid strains of A. nidulans able to detect the induction of mitotic gene conversion, mitotic crossing-over and mitotic non-disjunction with selective procedures are described and validated with standard mutagens: methyl methanesulphonate and UV radiation (lacking a specific genetic activity), benomyl and p-fluorophenylalanine (with a specific genetic activity). The possibility of using mammalian metabolic activation of promutagens in A. nidulans in vitro was tested with cyclophosphamide, with positive results in all the tested genetic systems. A method that increases the sensitivity of conidia to mutagenic treatments is described; its application appeared to be particularly useful in experiments on crossing-over and non-disjunction. (orig.)

  13. Radiation-induced nondisjunction of oocytes of aged mice

    International Nuclear Information System (INIS)

    Uchida, I.A.; Freeman, C.P.V.

    1977-01-01

    It is stated that some human epidemiological studies suggest that there may be an association between chromosomal nondisjunction and pre-conception abdominal exposure to X-rays in women, and that this appears to increase with age. In order to test this, some experimental evidence was sought by studying second metaphase chromosomes of cultured oocytes of mice. It had previously been found that abnormal segregation was induced in young mice by exposing them to a low dose of whole body 137 Cs γ-radiation. The new studies confirmed that this radiosensitivity increases with age. The radiation dose was kept low to minimise chromosome breakage. The results indicated that abnormal segregation may be induced during first meiotic division by in vivo exposure of mouse ovaries to low radiation doses, and that this radiosensitivity appears to increase markedly with age. This supports a suggestion that the risk of producing trisomic off-spring in humans is increased with exposure of the abdomen to diagnostic X-rays, and that this increases with age. (U.K.)

  14. Analysis of B chromosome nondisjunction induced by the r-X1 deficiency in maize.

    Science.gov (United States)

    Tseng, Shih-Hsuan; Peng, Shu-Fen; Cheng, Ya-Ming

    2017-11-20

    The maize B chromosome typically undergoes nondisjunction during the second microspore division. For normal A chromosomes, the r-X1 deficiency in maize can induce nondisjunction during the second megaspore and first microspore divisions. However, it is not known whether the r-X1 deficiency also induces nondisjunction of the maize B chromosome during these cell divisions. To answer this question, chromosome numbers were determined in the progeny of r-X1/R-r female parents carrying two B chromosomes. Some of the r-X1-lacking progeny (21.2%) contained zero or two B chromosomes. However, a much higher percentage of the r-X1-containing progeny (43.4%) exhibited zero or two B chromosomes, but none displayed more than two B chromosomes. Thus, the results indicated that the r-X1 deficiency could also induce nondisjunction of the B chromosome during the second megaspore division; moreover, the B chromosome in itself could undergo nondisjunction during the same division. In addition, pollen grains from plants with two B chromosomes lacking or exhibiting the r-X1 deficiency were compared via pollen fluorescence in situ hybridization (FISH) using a B chromosome-specific probe. The results revealed that the r-X1 deficiency could induce the occurrence of B chromosome nondisjunction during the first microspore division and that the B chromosome in itself could undergo nondisjunction during the same division at a lower frequency. Our data shed more light on the behavior of the maize B chromosome during cell division.

  15. Semiselective test for the detection of first- and second-division nondisjunction in Drosophila melanogaster

    International Nuclear Information System (INIS)

    Foureman, P.A.

    1986-01-01

    Little is known about the relative frequency of induction of nondisjunction in the first and second divisions of meiosis. The killer of prune system is a semiselective Drosophila aneuploidy assay designed to detect chromosome gain resulting from first- or second-division nondisjunction in males. The system can also detect X-Y interchange. Extensive data from nonmutagenized controls indicate that all the expected phenotypes can be recovered. Spontaneous nondisjunction in the first division is three times more frequent than in the second division. Spontaneous interchange between the X chromosome and YS is six times more frequent than between the X chromosome and YL. Exposures of larval males to X-rays, 35 degrees C heat shock, and colchicine were performed. X-ray exposure induced an increase in X-Y interchange events only. A 24-hr heat shock induced an increase in first-division nondisjunction and one type of interchange event. Colchicine failed to induce both nondisjunction and interchange, although it did decrease fertility. The Killer of prune test is of potential value because it allows for the assessment of the relative sensitivities of the two meiotic divisions to perturbations in chromosome number

  16. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    /jgen/088/01/0001-0007. Keywords. Down syndrome; trisomy 21; meiosis; Penrose; parental age; nondisjunction; human genetics. Author Affiliations. Santhosh Girirajan1. Department of Genome Sciences, University of Washington, Seattle, ...

  17. Angelman syndrome with uniparental disomy due to paternal meiosis II nondisjunction.

    Science.gov (United States)

    Gyftodimou, J; Karadima, G; Pandelia, E; Vassilopoulos, D; Petersen, M B

    1999-06-01

    We report a case of Angelman syndrome (AS) with paternal uniparental disomy (pUPD) of chromosome 15. This 6-year-old girl with overgrowth had frequent, but only provoked laughter, was mildly ataxic with limb hypertonia, and had no intelligible speech. She had deep-set eyes, protruding tongue, and prominent chin. The karyotype was normal. DNA analysis with microsatellites from chromosome 15 showed no inheritance of maternal alleles both within and outside the AS critical region. Proximal markers showed reduction to homozygosity of paternal alleles, intermediate markers showed nonreduction, and distal markers reduction, thus suggesting a meiosis II nondisjunction event in the father with two crossovers. This is, to our knowledge, the first reported case of AS due to meiosis II nondisjunction. We present detailed physical measurements in this patient, adding to the clinical description of the milder phenotype in AS due to pUPD.

  18. Isolation of chromosomal mutations in Drosophila melanogaster by the nondisjunction test

    International Nuclear Information System (INIS)

    Chadov, B.F.; Ivanov, Yu.N.; Artemova, E.V.

    1986-01-01

    The females carrying the combination of metacentric autosome 2 with two acrocentrics, F(2L) and F(2R), produce aneuploid egg cells 2/F(2L) and F(2R)(2-F(2L) nondisjunction) as well as egg cells 2/F(2R) and F(2L) (2-F(2R) nondisjunction). The frequency of nondisjunction 2-F(2L) sharply increases in the presence of inversion in the left arm of metacentric 2, and the frequency of nondisjunction 2-F(2R) increases when the right arm of the metacentric carries the inversion. The presence of the rearrangement in the left arm can be detected by the unusually high progeny size in the cross between 2/F(2L);F(2R) females, and C(2L);F(2R)/F(2R) males, and the presence of rearrangement in the right arm of the metacentric is inferred from a large progeny in the cross of similar females with F(2L)/F(2L);C(2R) males. The SPx 2 /F(2L);F(2R) daughters were obtained from SPx 2 /+ males irradiated with the dose of 3000R. Out of these, 972 daughters were individually crossed with F(2L)/F(2L); C(2R) males. Fifty-two cultures with large progeny size were identified by visual observation. Preparations of polytene chromsomes were made from the larvae. Twenty-six cultures had arrangements in 2 R: eight carried rearrangement In (2R), six In(2LR), ten T(2R; 3) and T(2R; X), and two Tp (2). The method can be used effective to detect chromosomal mutations, especially inversions in large samples

  19. Elucidating the mechanisms of paternal non-disjunction of chromosome 21 in humans.

    Science.gov (United States)

    Savage, A R; Petersen, M B; Pettay, D; Taft, L; Allran, K; Freeman, S B; Karadima, G; Avramopoulos, D; Torfs, C; Mikkelsen, M; Hassold, T J; Sherman, S L

    1998-08-01

    Paternal non-disjunction of chromosome 21 accounts for 5-10% of Down syndrome cases, therefore, relative to the maternally derived cases, little is known about paternally derived trisomy 21. We present the first analysis of recombination and non-disjunction for a large paternally derived population of free trisomy 21 conceptuses ( n = 67). Unlike maternal cases where the ratio of meiosis I (MI) to meiosis II (MII) errors is 3:1, a near 1:1 ratio exists among paternal cases, with a slight excess of MII errors. We found no paternal age effect for the overall population nor when classifying cases according to stage of non-disjunction error. Among 22 MI cases, only five had an observable recombinant event. This differs significantly from the 11 expected events ( P < 0.02, Fisher's exact), suggesting reduced recombination along the non-disjoined chromosomes 21 involved in paternal MI non-disjunction. No difference in recombination was detected among 27 paternal MII cases as compared with controls. However, cases exhibited a slight increase in the frequency of proximal and medial exchange when compared with controls (0.37 versus 0.28, respectively). Lastly, this study confirmed previous reports of excess male probands among paternally derived trisomy 21 cases. However, we report evidence suggesting an MII stage-specific sex ratio disturbance where 2.5 male probands were found for each female proband. Classification of MII cases based on the position of the exchange event suggested that the proband sex ratio disturbance was restricted to non-telomeric exchange cases. Based on these findings, we propose new models to explain the association between paternally derived trisomy 21 and excessive male probands.

  20. Nondisjunction induced in mouse spermatogenesis by chloral hydrate, a metabolite of trichloroethylene.

    Science.gov (United States)

    Russo, A; Pacchierotti, F; Metalli, P

    1984-01-01

    The effects of chloral hydrate (CH), an in vivo metabolite of trichloroethylene, have been evaluated by cytogenetic observations of mouse secondary spermatocytes after ip treatment with 82.7, 165.4, or 413.5 mg/kg bw. Hyper-haploid metaphases have been scored to determine whether previous observations in various nonmammalian organisms about an effect of this drug on the mitotic spindle could be confirmed in mice. At each dose, the frequencies of hyper-haploid cells have been estimated to assess the response of pachytene, preleptotene, premeiotic, and staminal gonial cells. Significant increases above the control value have been observed particularly after treatment of actively dividing gonial cells, confirming the results obtained with the same batch of the drug in a parallel collaborative investigation with Aspergillus nidulans. Thus: a) chloral hydrate has been shown to be effective in inducing nondisjunction in a mammalian system; b) a prevalent action on the mitotic spindle has been confirmed and quantified; and c) the usefulness of parallel investigations with different methods is stressed, particularly to collect information about the mechanisms of induction of nondisjunction events.

  1. An XXX male resulting from paternal X-Y interchange and maternal X-X nondisjunction.

    Science.gov (United States)

    Annerén, G; Andersson, M; Page, D C; Brown, L G; Berg, M; Läckgren, G; Gustavson, K H; de la Chapelle, A

    1987-01-01

    A 2-year-old boy was found to have a 47,XXX karyotype. Restriction-fragment-length-polymorphism analysis showed that, of his three X chromosomes, one is of paternal and two are of maternal origin. The results of Y-DNA hybridization were reminiscent of those in XX males in two respects. First, hybridization to Southern transfers revealed the presence in this XXX male of sequences derived from the Y-chromosomal short arm. Second, in situ hybridization showed that this Y DNA was located on the tip of the X-chromosomal short arm. We conclude that this XXX male resulted from the coincidence of X-X nondisjunction during maternal meiosis and aberrant X-Y interchange either during or prior to paternal meiosis. Images Fig. 1 Fig. 2 Fig. 3 Fig. 4 Fig. 5 PMID:2889356

  2. Radiation induced genetic damage in Aspergillus nidulans

    International Nuclear Information System (INIS)

    Georgiou, J.T.

    1984-01-01

    The mechanism by which ionizing radiation induces genetic damage in haploid and diploid conidia of Aspergillus nidulans was investigated. Although the linear dose-response curves obtained following low LET irradiation implied a 'single-hit' action of radiation, high LET radiations were much more efficient than low LET radiations, which suggests the involvement of a multiple target system. It was found that the RBE values for non-disjunction and mitotic crossing-over were very different. Unlike mitotic crossing-over, the RBE values for non-disjunction were much greater than for cell killing. This suggests that non-disjunction is a particularly sensitive genetical endpoint that is brought about by damage to a small, probably non-DNA target. Radiosensitisers were used to study whether radiation acts at the level of the DNA or some other cellular component. The sensitisation to electrons and/or X-rays by oxygen, and two nitroimidazoles (metronidazole and misonidazole) was examined for radiation induced non-disjunction, mitotic crossing-over, gene conversion, point mutation and cell killing. It was found that these compounds sensitised the cells considerably more to genetic damage than to cell killing. (author)

  3. Nondisjunction in Favor of a Chromosome: The Mechanism of Rye B Chromosome Drive during Pollen Mitosis

    Czech Academy of Sciences Publication Activity Database

    Banaei-Moghaddam, A.M.; Schubert, V.; Kumke, K.; Weiβ, O.; Klemme, S.; Nagaki, K.; Macas, Jiří; González-Sánchez, M.; Heredia, V.; Gómez-Revilla, D.; González-García, M.; Vega, J.M.; Puertas, M.J.; Houben, A.

    2012-01-01

    Roč. 24, č. 10 (2012), s. 4124-4134 ISSN 1040-4651 Institutional research plan: CEZ:AV0Z50510513 Keywords : chromosomes * centromere * repeats Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 9.251, year: 2012

  4. Rec-8 dimorphism affects longevity, stress resistance and X-chromosome nondisjunction in C. elegans, and replicative lifespan in yeast

    Directory of Open Access Journals (Sweden)

    Srinivas eAyyadevara

    2014-08-01

    Full Text Available A quantitative trait locus (QTL in the nematode C. elegans, lsq4, was recently implicated by mapping longevity genes. QTLs for lifespan and 3 stress-resistance traits coincided within a span of <300 kbp, later narrowed to <200 kbp. A single gene in this interval is now shown to modulate all lsq4-associated traits. Full-genome analysis of transcript levels indicates that lsq4 contains a dimorphic gene governing expression of sperm-specific genes, suggesting effects on spermatogenesis. Quantitation of allele-specific transcripts encoded within the lsq4 interval revealed significant, 2- to 15-fold expression differences for 10 of 33 genes. Fourteen genes, implicated by both position and expression, were tested for RNA-interference effects on QTL-linked traits. In a strain carrying the shorter-lived allele, knockdown of rec-8 (encoding a meiotic cohesin reduced its transcripts 4-fold, to a level similar to the longer-lived strain, and extended lifespan 25–26% whether begun before fertilization or at maturity. The short-lived lsq4 allele also conferred sensitivity to oxidative and thermal stresses, and lower male frequency, traits reversed uniquely by rec-8 knockdown. A strain bearing the longer-lived lsq4 allele, differing from the short-lived strain at <0.3% of its genome, derived no lifespan or stress-survival benefit from rec-8 knockdown. We consider two possible explanations: high rec-8 expression may include increased leaky expression in mitotic cells, leading to deleterious destabilization of somatic genomes; or REC-8 may act entirely in germ-line meiotic cells to reduce aberrations such as nondisjunction, thereby blunting a stress-resistance response mediated by innate immunity. Replicative lifespan was extended 20% in haploid S. cerevisiae (BY4741 by deletion of REC8, orthologous to nematode rec-8, implying that REC8 disruption of mitotic-cell survival is widespread, reflecting antagonistic pleiotropy and/or balancing selection.

  5. Nondisjunction and chromosomal anomalies

    Directory of Open Access Journals (Sweden)

    Mostapha Ahmad

    2010-01-01

    Full Text Available La no segregación es el fracaso de los cromosomas homólogos en separarse correctamente durante la meiosis. Esto resulta en la producción de gametos que contienen una cantidad de cromosomas mayor o menor a la encontrada en una célula normal. Consecuentemente, el individuo puede desarrollar una trisomía o monosomía. La no disyunción puede ocurrir en meiosis I o meiosis II de la división celular, es una causa de diversas condiciones médicas anormales, incluyendo el Síndrome de Down (trisomía del cromosoma 21, Síndrome de Patau (trisomía del cromosoma 13, Síndrome de Edward (trisomía del cromosoma 18 y Síndrome de Turner (la presencia de un solo cromosoma X. A pesar de que es la causa de numerosos trastornos genéticos, aún no se conoce su etiología exacta y el proceso en el cual se lleva a cabo. La no disyunción se origina en el mayor de los casos de errores en la meiosis II materna, sin embargo, la meiosis paterna y la meiosis I materna influyen en ella. La edad materna se considera como un factor de riesgo de las trisomías, igual que la alteración de la recombinación y otros factores que pueden afectar la segregación cromosómica, tal como la genotoxicidad y translocaciones cromosómicas. Esta revisión se realizará con base en artículos publicados entre 2003 y 2009 en ISI Web, Science Direct, PUBMED, SPRINGER y SCIELO; se interpretará y analizará en ella los resultados de estos estudios que lograron demostrar conclusiones importantes y sobresaltaron factores interesantes que pueden ser el punto de partida para próximas investigaciones.

  6. Studies of the repair of radiation-induced genetic damage in drosophila. Annual progress report

    International Nuclear Information System (INIS)

    Genetic characteristics of mutagen-sensitive mutants linked to the X chromosome were studied. These mutants increase loss and nondisjunction of chromosomes in female meiosis and are sensitive to radiation and mutagens. A study of chemical characteristics of the mutant suggested the existence of two separate forms of postreplication repair. One pathway is not caffeine sensitive and does not require recombination related functions; the second pathway appears to be caffeine sensitive and probably shares functions involved in meiotic recombination

  7. Accuracy of preimplantation genetic diagnosis (PGD) of single gene and chromosomal disorders

    Energy Technology Data Exchange (ETDEWEB)

    Verlinsky, Y.; Strom, C.; Rechitsky, S. [Reproductive Genetics Institute, Chicage, IL (United States)] [and others

    1994-09-01

    We have developed a polar body inferred approach for preconception diagnosis of single gene and chromosomal disorders. Preconception PCR or FISH analysis was performed in a total of 310 first polar bodies for the following genetic conditions: cystic fibrosis, hemophilia A, alpha-1-antitrypsin deficiency, Tay Sachs disease, retinitis pigmentosa and common chromosomal trisomies. An important advantage of this approach is the avoidance of sperm (DNA) contamination, which is the major problem of PGD. We are currently applying FISH analysis of biopsied blastomeres, in combination with PCR or separately, and have demonstrated a significant improvement of the accuracy of PGD of X-linked disorders at this stage. Our data have also demonstrated feasibility of the application of FISH technique for PGD of chromosomal disorders. It was possible to detect chromosomal non-disjunctions and chromatid malsegregations in the first meiotic division, as well as to evaluate chromosomal mutations originating from the second meiotic nondisjunction.

  8. Mammalian Genetics and Teratology Section

    International Nuclear Information System (INIS)

    Anon.

    1980-01-01

    The work of the Mammalian Genetics and Teratology Section includes research in mutagenesis, basic genetics, reproductive biology, and teratogenesis involving basic studies, method development, including exploration of the biological material, and testing. The basic studies make good use of the genetic material accumulated in mutagenesis experiments of various kinds, or of the findings of mutagenesis experiments themselves. In the latter category is the finding of a repair system in the fertilized egg. The genetics of repair competency or deficiency are now under study. A linear relationship between gene dosage and level of expression of an enzyme has been demonstrated. Opportunities for the study of gene action are provided by a number of X-autosome translocations which continue to be discovered in the course of mutagenesis experiments. In these rearrangements, X-chromosome inactivation extends to neighboring autosomal loci. Considerable progress has been made in developing the skeletal mutation system, which provides information on dominants that is highly useful for risk assessment. A sensitive-indicator test is now under development which will make the screening for skeletal mutations much faster and easier. Method development has also progressed on the in vivo somatic-mutation test now being widely used as an in vivo screen for mutagens. Another method developed here is the numerical sex-chromosome anomaly (NSA) test for nondisjunction. The NSA method is being used to explore the effects of female age on chromosome loss and nondisjunction. A model for estimating the misclassification error was experimentally established for the heritable translocation test. A rapid, easy, and sensitive in vivo screening test for teratogenesis was developed. An in vitro teratogenic prescreen being developed makes use of teratocarcinoma-derived cell lines

  9. 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

  10. 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...

  11. Meiotic non-disjunction induced by fission neutrons relative to X-rays observed in mouse secondary spermatocytes. Pt. 1. The response of different cell stages to a single radiation dose

    Energy Technology Data Exchange (ETDEWEB)

    Russo, A.; Pacchierotti, F.; Metalli, P. (Nuclear Energy Agency, Rome (Italy). Div. of Physics and Biomedical Sciences)

    1983-03-01

    (C57BL/CnexC3H/Cne)F/sub 1/ male mice were irradiated with 2 Gy of 250-kV X-rays or 0.56 Gy of attenuated fission spectrum neutrons, and killed at various times after treatment. Second meiotic metaphases of spermatogenetic cells irradiated in various meiotic and premeiotic stages were observed. These stages were first meiotic metaphase, diplotene, late pachytene, mid-pachytene, zygotene, pre-leptotene and spermatogonia. Cells were classified by chromosome counting, and those with 18 <=n<=22 were recorded. An index of induction of non-disjunction events was obtained by the frequency of hyper-haploid spermatocytes relative to the sum of hyper-haploid and normal haploid spreads. The frequency of hyper-haploid spermatocytes was 0.7+-0.4 in control mice. It was higher after treatment with both types of radiation at all meiotic stages tested, with a peak of induction at and shortly before metaphase I-diakinesis (16-19%). Irradiated gonial cells also yielded values higher than did controls. The difference was statistically significant after irradiation with neutrons, showing that radiation can induce non-disjunction events in stem cells.

  12. Genetic Causes of Recurrent Pregnancy Loss.

    Science.gov (United States)

    Page, Jessica M; Silver, Robert M

    2016-09-01

    Pregnancy loss is one of the most common obstetric complications, affecting over 30% of conceptions. A considerable proportion of losses are due to genetic abnormalities. Indeed, over 50% of early pregnancy losses have been associated with chromosomal abnormalities. Most are due to de novo nondisjunctional events but balanced parental translocations are responsible for a small but important percentage of genetic abnormalities in couples with recurrent pregnancy loss. In the past, assessment of genetic abnormalities was limited to karyotype performed on placental or fetal tissue. However, advances in molecular genetic technology now provide rich genetic information about additional genetic causes of and risk factors for pregnancy loss. In addition, the use of preimplantation genetic testing in couples undergoing in vitro fertilization has the potential to decrease the risk of pregnancy loss from genetic abnormalities. To date, efficacy is uncertain but considerable potential remains. This chapter will review what is known about genetic causes of recurrent pregnancy loss with a focus on novel causes and potential treatments. Remaining knowledge gaps will be highlighted.

  13. Endocrine problems in children with Prader-Willi syndrome: special review on associated genetic aspects and early growth hormone treatment

    Directory of Open Access Journals (Sweden)

    Dong-Kyu Jin

    2012-07-01

    Full Text Available Prader-Willi syndrome (PWS is a complex multisystem genetic disorder characterized by hypothalamic-pituitary dysfunction. The main clinical features include neonatal hypotonia, distinctive facial features, overall developmental delay, and poor growth in infancy, followed by overeating with severe obesity, short stature, and hypogonadism later in development. This paper reviews recent updates regarding the genetic aspects of this disorder. Three mechanisms (paternal deletion, maternal disomy, and deficient imprinting are recognized. Maternal disomy can arise because of 4 possible mechanisms: trisomy rescue (TR, gamete complementation (GC, monosomy rescue (MR, and postfertilization mitotic nondisjunction (Mit. Recently, TR/GC caused by nondisjunction at maternal meiosis 1 has been identified increasingly, as a result of advanced maternal childbearing age in Korea. We verified that the d3 allele increases the responsiveness of the growth hormone (GH receptor to endogenous GH. This paper also provides an overview of endocrine dysfunctions in children with PWS, including GH deficiency, obesity, sexual development, hypothyroidism, and adrenal insufficiency, as well as the effects of GH treatment. GH treatment coupled with a strictly controlled diet during early childhood may help to reduce obesity, improve neurodevelopment, and increase muscle mass. A more active approach to correct these hormone deficiencies would benefit patients with PWS.

  14. Failure of irradiated beef and ham to induce genetic aberrations of Drosophila

    International Nuclear Information System (INIS)

    Mittler, S.

    1979-01-01

    Ham that had been irradiated by electrons and beef which had been exposed to gamma rays from 60 Co were fed to Drosophila melanogaster to determine whether meat sterilized by these methods would induce genetic aberrations. The results showed that for yB/sc 8 y + Y males, fed on irradiated ham or beef, thermally preserved beef or frozen beef for their entire larval life, there was no significant increase in the loss of X or Y chromosomes or non-disjunction of these chromosomes; there was also no significant increase in any of the broods. Similarly for the Oregon R males, there was no significant increase in yield of sex-linked recessive lethals. Thus feeding of irradiated ham and beef to Drosophila males did not induce significant increases in genetic aberrations. The present findings are discussed in relation to the conflicting results of previous studies. (U.K.)

  15. Strategies for outcrossing and genetic manipulation of Drosophila compound autosome stocks.

    Science.gov (United States)

    Martins, T; Kotadia, S; Malmanche, N; Sunkel, C E; Sullivan, W

    2013-01-01

    Among all organisms, Drosophila melanogaster has the most extensive well-characterized collection of large-scale chromosome rearrangements. Compound chromosomes, rearrangements in which homologous chromosome arms share a centromere, have proven especially useful in genetic-based surveys of the entire genome. However, their potential has not been fully realized because compound autosome stocks are refractile to standard genetic manipulations: if outcrossed, they yield inviable aneuploid progeny. Here we describe two strategies, cold-shock and use of the bubR1 mutant alleles, to produce nullo gametes through nondisjunction. These gametes are complementary to the compound chromosome-bearing gametes and thus produce viable progeny. Using these techniques, we created a compound chromosome two C(2)EN stock bearing a red fluorescent protein-histone transgene, facilitating live analysis of these unusually long chromosomes.

  16. [Turner syndrome and genetic polymorphism: a systematic review].

    Science.gov (United States)

    Trovó de Marqui, Alessandra Bernadete

    2015-01-01

    To present the main results of the literature on genetic polymorphisms in Turner Syndrome and their association with the clinical signs and the etiology of this chromosomal disorder. The review was conducted in the PubMed database without any time limit, using the terms Turner syndrome and genetic polymorphism. A total of 116 articles were found, and based on the established inclusion and exclusion criteria 17 were selected for the review. The polymorphisms investigated in patients with Turner Syndrome were associated with growth deficit, causing short stature, low bone mineral density, autoimmunity and cardiac abnormalities, which are frequently found in patients with Turner Syndrome. The role of single nucleotide polymorphisms (SNPs) in the etiology of Turner syndrome, i.e., in chromosomal nondisjunction, was also confirmed. Genetic polymorphisms appear to be associated with Turner Syndrome. However, in view of the small number of published studies and their contradictory findings, further studies in different populations are needed in order to clarify the role of genetic variants in the clinical signs and etiology of the Turner Syndrome. Copyright © 2015 Sociedade de Pediatria de São Paulo. Publicado por Elsevier Editora Ltda. All rights reserved.

  17. Genetic analysis of variation in human meiotic recombination.

    Directory of Open Access Journals (Sweden)

    Reshmi Chowdhury

    2009-09-01

    Full Text Available The number of recombination events per meiosis varies extensively among individuals. This recombination phenotype differs between female and male, and also among individuals of each gender. In this study, we used high-density SNP genotypes of over 2,300 individuals and their offspring in two datasets to characterize recombination landscape and to map the genetic variants that contribute to variation in recombination phenotypes. We found six genetic loci that are associated with recombination phenotypes. Two of these (RNF212 and an inversion on chromosome 17q21.31 were previously reported in the Icelandic population, and this is the first replication in any other population. Of the four newly identified loci (KIAA1462, PDZK1, UGCG, NUB1, results from expression studies provide support for their roles in meiosis. Each of the variants that we identified explains only a small fraction of the individual variation in recombination. Notably, we found different sequence variants associated with female and male recombination phenotypes, suggesting that they are regulated by different genes. Characterization of genetic variants that influence natural variation in meiotic recombination will lead to a better understanding of normal meiotic events as well as of non-disjunction, the primary cause of pregnancy loss.

  18. Genetic analysis of the claret locus of Drosophila melanogaster

    International Nuclear Information System (INIS)

    Sequeira, W.; Nelson, C.R.; Szauter, P.

    1989-01-01

    The claret (ca) locus of Drosophila melanogaster comprises two separately mutable domains, one responsible for eye color and one responsible for proper disjunction of chromosomes in meiosis and early cleavage divisions. Previously isolated alleles are of three types: (1) alleles of the claret (ca) type that affect eye color only, (2) alleles of the claret-nondisjunctional (ca nd ) type that affect eye color and chromosome behavior, and (3) a meiotic mutation, non-claret disjunctional (ncd), that affects chromosome behavior only. In order to investigate the genetic structure of the claret locus, the authors have isolated 19 radiation-induced alleles of claret on the basis of the eye color phenotype. Two of these 19 new alleles are of the ca nd type, while 17 are of the ca type, demonstrating that the two domains do not often act as a single target for mutagenesis. This suggests that the two separately mutable functions are likely to be encoded by separate or overlapping genes rather than by a single gene. One of the new alleles of the ca nd type is a chromosome rearrangement with a breakpoint at the position of the claret locus. If this breakpoint is the cause of the mutant phenotype and there are no other mutations associated with the rearrangement, the two functions must be encoded by overlapping genes

  19. Genetic algorithms

    Science.gov (United States)

    Wang, Lui; Bayer, Steven E.

    1991-01-01

    Genetic algorithms are mathematical, highly parallel, adaptive search procedures (i.e., problem solving methods) based loosely on the processes of natural genetics and Darwinian survival of the fittest. Basic genetic algorithms concepts are introduced, genetic algorithm applications are introduced, and results are presented from a project to develop a software tool that will enable the widespread use of genetic algorithm technology.

  20. Origen parental, estado de no disyunción y recombinación meiótica del cromosoma 21 extra en el síndrome de Down: estudio en una muestra de población colombiana Parental origin, nondisjunction, and recombination of the extra chromosome 21 in Down syndrome: a study in a sample of the Colombian population

    Directory of Open Access Journals (Sweden)

    Gonzalo Humberto Arboleda

    2010-08-01

    susceptible recombination patterns are recognized risk factors associated to Down syndrome. Maternal origin of trisomy occurs in approximately 90% of cases; paternal and mitotic origin share the remaining 10%. However, the recombination events that serve as a risk factors for trisomy 21 have not been carefully characterized.
    Objective. To analyze and validate observations in a sample of Colombian trysonomy 21 cases.
    Materials and methods. Twenty-two Colombian families were selected, each with one affected Down syndrome (free trisomy 21 child. Microsatellite polymorphisms were used as DNA markers to determine the parental/stage origin of non-disjunction and recombination events. Nonparametric tests were used to compare our results with those reported. Multiple correspondence analysis was used to outline different groups and their associations.
    Results. Distribution of trisomy 21 was 90.9% maternal, 4.5% paternal and 4.5% from mitotic origin, similar to distributions reported previously. However, we found differences in the frequency of maternal meiotic stage errors between the present study (46.1% meiosis I and 53.9% meiosis II compared to those reported previously (70% meiosis I and 30% meiosis II. Multiple correspondence analyses showed association of either local recombination events or absence of recombination with specific non-disjunction stages.
    Conclusions. Recombination patterns found in this study support the hypothesis that susceptible chiasmate configurations are associated to maternal meiosis I and meiosis II errors. Nondisjunction frequencies between maternal meiotic stages need to be clarified in our population.

  1. Genetic Mapping

    Science.gov (United States)

    ... greatly advanced genetics research. The improved quality of genetic data has reduced the time required to identify a ... cases, a matter of months or even weeks. Genetic mapping data generated by the HGP's laboratories is freely accessible ...

  2. Genetic privacy.

    Science.gov (United States)

    Sankar, Pamela

    2003-01-01

    During the past 10 years, the number of genetic tests performed more than tripled, and public concern about genetic privacy emerged. The majority of states and the U.S. government have passed regulations protecting genetic information. However, research has shown that concerns about genetic privacy are disproportionate to known instances of information misuse. Beliefs in genetic determinacy explain some of the heightened concern about genetic privacy. Discussion of the debate over genetic testing within families illustrates the most recent response to genetic privacy concerns.

  3. Genetic modification and genetic determinism

    Science.gov (United States)

    Resnik, David B; Vorhaus, Daniel B

    2006-01-01

    In this article we examine four objections to the genetic modification of human beings: the freedom argument, the giftedness argument, the authenticity argument, and the uniqueness argument. We then demonstrate that each of these arguments against genetic modification assumes a strong version of genetic determinism. Since these strong deterministic assumptions are false, the arguments against genetic modification, which assume and depend upon these assumptions, are therefore unsound. Serious discussion of the morality of genetic modification, and the development of sound science policy, should be driven by arguments that address the actual consequences of genetic modification for individuals and society, not by ones propped up by false or misleading biological assumptions. PMID:16800884

  4. From Genetics to Genetic Algorithms

    Indian Academy of Sciences (India)

    Genetic algorithms (GAs) are computational optimisation schemes with an ... The algorithms solve optimisation problems ..... Genetic Algorithms in Search, Optimisation and Machine. Learning, Addison-Wesley Publishing Company, Inc. 1989.

  5. From Genetics to Genetic Algorithms

    Indian Academy of Sciences (India)

    artificial genetic system) string feature or ... called the genotype whereas it is called a structure in artificial genetic ... assigned a fitness value based on the cost function. Better ..... way it has produced complex, intelligent living organisms capable of ...

  6. About Genetic Counselors

    Science.gov (United States)

    ... clinical care in many areas of medicine. Assisted Reproductive Technology/Infertility Genetics Cancer Genetics Cardiovascular Genetics Cystic Fibrosis Genetics Fetal Intervention and Therapy Genetics Hematology Genetics Metabolic Genetics ...

  7. Genetic modification and genetic determinism

    Directory of Open Access Journals (Sweden)

    Vorhaus Daniel B

    2006-06-01

    Full Text Available Abstract In this article we examine four objections to the genetic modification of human beings: the freedom argument, the giftedness argument, the authenticity argument, and the uniqueness argument. We then demonstrate that each of these arguments against genetic modification assumes a strong version of genetic determinism. Since these strong deterministic assumptions are false, the arguments against genetic modification, which assume and depend upon these assumptions, are therefore unsound. Serious discussion of the morality of genetic modification, and the development of sound science policy, should be driven by arguments that address the actual consequences of genetic modification for individuals and society, not by ones propped up by false or misleading biological assumptions.

  8. Genetic Engineering

    Science.gov (United States)

    Phillips, John

    1973-01-01

    Presents a review of genetic engineering, in which the genotypes of plants and animals (including human genotypes) may be manipulated for the benefit of the human species. Discusses associated problems and solutions and provides an extensive bibliography of literature relating to genetic engineering. (JR)

  9. Genetic Romanticism

    DEFF Research Database (Denmark)

    Tupasela, Aaro

    2016-01-01

    inheritance as a way to unify populations within politically and geographically bounded areas. Thus, new genetics have contributed to the development of genetic romanticisms, whereby populations (human, plant, and animal) can be delineated and mobilized through scientific and medical practices to represent...

  10. Evolutionary genetics

    National Research Council Canada - National Science Library

    Maynard Smith, John

    1989-01-01

    .... It differs from other textbooks of population genetics in applying the basic theory to topics, such as social behaviour, molecular evolution, reiterated DNA, and sex, which are the main subjects...

  11. Genetic Discrimination

    Science.gov (United States)

    ... Care Genomic Medicine Working Group New Horizons and Research Patient Management Policy and Ethics Issues Quick Links for Patient Care Education All About the Human Genome Project Fact Sheets Genetic Education Resources for ...

  12. Arthropod Genetics.

    Science.gov (United States)

    Zumwalde, Sharon

    2000-01-01

    Introduces an activity on arthropod genetics that involves phenotype and genotype identification of the creature and the construction process. Includes a list of required materials and directions to build a model arthropod. (YDS)

  13. Desktop Genetics

    OpenAIRE

    Hough, Soren H; Ajetunmobi, Ayokunmi; Brody, Leigh; Humphryes-Kirilov, Neil; Perello, Edward

    2016-01-01

    Desktop Genetics is a bioinformatics company building a gene-editing platform for personalized medicine. The company works with scientists around the world to design and execute state-of-the-art clustered regularly interspaced short palindromic repeats (CRISPR) experiments. Desktop Genetics feeds the lessons learned about experimental intent, single-guide RNA design and data from international genomics projects into a novel CRISPR artificial intelligence system. We believe that machine learni...

  14. J. Genet. classic 101

    Indian Academy of Sciences (India)

    Journal of Genetics, Vol. 85, No. 2, August 2006. 101. Page 2. J. Genet. classic. 102. Journal of Genetics, Vol. 85, No. 2, August 2006. Page 3. J. Genet. classic. Journal of Genetics, Vol. 85, No. 2, August 2006. 103. Page 4. J. Genet. classic. 104. Journal of Genetics, Vol. 85, No. 2, August 2006. Page 5. J. Genet. classic.

  15. J. Genet. classic 37

    Indian Academy of Sciences (India)

    Unknown

    Journal of Genetics, Vol. 84, No. 1, April 2005. 37. Page 2. J. Genet. classic. Journal of Genetics, Vol. 84, No. 1, April 2005. 38. Page 3. J. Genet. classic. Journal of Genetics, Vol. 84, No. 1, April 2005. 39. Page 4. J. Genet. classic. Journal of Genetics, Vol. 84, No. 1, April 2005. 40. Page 5. J. Genet. classic. Journal of ...

  16. Preimplantation genetic diagnosis outcomes and meiotic segregation analysis of robertsonian translocation carriers.

    Science.gov (United States)

    Ko, Duck Sung; Cho, Jae Won; Lee, Hyoung-Song; Kim, Jin Yeong; Kang, Inn Soo; Yang, Kwang Moon; Lim, Chun Kyu

    2013-04-01

    To investigate the meiotic segregation patterns of cleavage-stage embryos from robertsonian translocation carriers and aneuploidy of chromosome 18 according to meiotic segregation patterns. Retrospective study. Infertility center and laboratory of reproductive biology and infertility. Sixty-two couples with robertsonian translocation carriers. One blastomere was biopsied from embryos and diagnosed with the use of fluorescence in situ hybridization (FISH). Translocation chromosomes were analyzed with the use of locus-specific and subtelomeric FISH probes. Aneuploidy of chromosome 18 was assessed simultaneously with translocation chromosomes. Preimplantation genetic diagnosis (PGD) outcomes, meiotic segregation patterns of robertsonian translocation, and aneuploidy of chromosome 18 depending on meiotic segregation patterns. Two hundred seventy embryos of 332 transferrable embryos were transferred in 113 cycles, and 27 healthy babies were born. The alternate segregation was significantly higher in male carriers than in female carriers (43.9% vs. 29.9%, respectively), and adjacent segregation was higher in female carriers than in male carriers (44.7% vs. 38.7%, respectively). Aneuploidy of chromosome 18 was significantly increased in 3:0-segregated or chaotic embryos. Forty-seven alternate embryos were excluded from embryo replacement owing to aneuploidy of chromosome 18. In carriers of robertsonian translocation, meiotic segregation showed differences between men and women. Frequent meiotic errors caused by premature predivision or nondisjunction and less stringent checkpoint in women might cause such differences between sexes. Aneuploidy of chromosome 18 might be influenced by meiotic segregation of translocation chromosomes. Factors that cause malsegregation, such as 3:0 or chaotic segregation, seem to play a role in aneuploidy of chromosome 18. Copyright © 2013 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  17. Genetic GIScience

    DEFF Research Database (Denmark)

    Jacquez, Geoffrey; Sabel, Clive E; Shi, Chen

    2015-01-01

    The exposome, defined as the totality of an individual's exposures over the life course, is a seminal concept in the environmental health sciences. Although inherently geographic, the exposome as yet is unfamiliar to many geographers. This article proposes a place-based synthesis, genetic...... geographic information science (genetic GIScience), that is founded on the exposome, genome+, and behavome. It provides an improved understanding of human health in relation to biology (the genome+), environmental exposures (the exposome), and their social, societal, and behavioral determinants (the behavome......). Genetic GIScience poses three key needs: first, a mathematical foundation for emergent theory; second, process-based models that bridge biological and geographic scales; third, biologically plausible estimates of space?time disease lags. Compartmental models are a possible solution; this article develops...

  18. Desktop Genetics.

    Science.gov (United States)

    Hough, Soren H; Ajetunmobi, Ayokunmi; Brody, Leigh; Humphryes-Kirilov, Neil; Perello, Edward

    2016-11-01

    Desktop Genetics is a bioinformatics company building a gene-editing platform for personalized medicine. The company works with scientists around the world to design and execute state-of-the-art clustered regularly interspaced short palindromic repeats (CRISPR) experiments. Desktop Genetics feeds the lessons learned about experimental intent, single-guide RNA design and data from international genomics projects into a novel CRISPR artificial intelligence system. We believe that machine learning techniques can transform this information into a cognitive therapeutic development tool that will revolutionize medicine.

  19. New Genetics

    Science.gov (United States)

    ... of the booklet. » more Chapter 1: How Genes Work Covers DNA, RNA, transcription, RNA splicing, translation, ribosomes, antibiotics, genetic diseases, gene chips. » more Chapter 2: RNA and DNA Revealed: New Roles, New Rules Covers microRNAs, RNAi, epigenetics, telomeres, mtDNA, recombinant DNA. » ...

  20. Genetic effects

    International Nuclear Information System (INIS)

    Kato, Hiroo

    1975-01-01

    In 1948-1953 a large scale field survey was conducted to investigate the possible genetic effects of A-bomb radiation on over 70,000 pregnancy terminations in the cities of Hiroshima and Nagasaki. The indices of possible genetic effect including sex ratio, birth weight, frequency of malformation, stillbirth, neonatal death, deaths within 9 months and anthropometric measurements at 9 months of age for these children were investigated in relation to their parent's exposure status to the A-bomb. There were no detectable genetic effects in this sample, except for a slight change in sex ratio which was in the direction to be expected if exposure had induced sex-linked lethal mutations. However, continued study of the sex ratio, based upon birth certificates in Hiroshima and Nagasaki for 1954-1962, did not confirm the earlier trend. Mortality in these children of A-bomb survivors is being followed using a cohort of 54,000 subjects. No clearly significant effect of parental exposure on survival of the children has been demonstrated up to 1972 (age 17 on the average). On the basis of the regression data, the minimal genetic doubling dose of this type of radiation for mutations resulting in death is estimated at 46 rem for the father and 125 rem for the mother. (auth.)

  1. Melanoma genetics

    DEFF Research Database (Denmark)

    Read, Jazlyn; Wadt, Karin A W; Hayward, Nicholas K

    2015-01-01

    Approximately 10% of melanoma cases report a relative affected with melanoma, and a positive family history is associated with an increased risk of developing melanoma. Although the majority of genetic alterations associated with melanoma development are somatic, the underlying presence of herita......Approximately 10% of melanoma cases report a relative affected with melanoma, and a positive family history is associated with an increased risk of developing melanoma. Although the majority of genetic alterations associated with melanoma development are somatic, the underlying presence...... in a combined total of approximately 50% of familial melanoma cases, the underlying genetic basis is unexplained for the remainder of high-density melanoma families. Aside from the possibility of extremely rare mutations in a few additional high penetrance genes yet to be discovered, this suggests a likely...... polygenic component to susceptibility, and a unique level of personal melanoma risk influenced by multiple low-risk alleles and genetic modifiers. In addition to conferring a risk of cutaneous melanoma, some 'melanoma' predisposition genes have been linked to other cancers, with cancer clustering observed...

  2. Genetic Recombination

    Science.gov (United States)

    Whitehouse, H. L. K.

    1973-01-01

    Discusses the mechanisms of genetic recombination with particular emphasis on the study of the fungus Sordaria brevicollis. The study of recombination is facilitated by the use of mutants of this fungus in which the color of the ascospores is affected. (JR)

  3. Genetic analysis

    NARCIS (Netherlands)

    Koornneef, M.; Alonso-Blanco, C.; Stam, P.

    2006-01-01

    The Mendelian analysis of genetic variation, available as induced mutants or as natural variation, requires a number of steps that are described in this chapter. These include the determination of the number of genes involved in the observed trait's variation, the determination of dominance

  4. Molecular genetics

    International Nuclear Information System (INIS)

    Parkinson, D.R.; Krontiris, T.G.

    1986-01-01

    In this chapter the authors review new findings concerning the molecular genetics of malignant melanoma in the context of other information obtained from clinical, epidemiologic, and cytogenetic studies in this malignancy. These new molecular approaches promise to provide a more complete understanding of the mechanisms involved in the development of melanoma, thereby suggesting new methods for its treatment and prevention

  5. J. Genet. classic 235

    Indian Academy of Sciences (India)

    Unknown

    Journal of Genetics, Vol. 83, No. 3, December 2004. 235. Page 2. J. Genet. classic. Journal of Genetics, Vol. 83, No. 3, December 2004. 236. Page 3. J. Genet. classic. Journal of Genetics, Vol. 83, No. 3, December 2004. 237. Page 4. J. Genet. classic. Journal of Genetics, Vol. 83, No. 3, December 2004. 238. Page 5 ...

  6. Genetic effects

    International Nuclear Information System (INIS)

    Bender, M.A.; Abrahamson, S.; Denniston, C.; Schull, W.J.

    1989-01-01

    In this chapter, we present a comprehensive analysis of the major classes of genetic diseases that would be increased as a result of an increased gonadal radiation exposure to a human population. The risk analysis takes on two major forms: the increase in genetic disease that would be observed in the immediate offspring of the exposed population, and the subsequent transmission of the newly induced mutations through future generations. The major classes of genetic disease will be induced at different frequencies, and will also impact differentially in terms of survivability and fertility on the affected individuals and their descendants. Some classes of disease will be expected to persist for only a few generations at most. Other types of genetic disease will persist through a longer period. The classes of genetic diseases studied are: dominant gene mutation, X-linked gene mutation, chromosome disorders and multifactorial disorders which involve the interaction of many mutant genes and environmental factors. For each of these classes we have derived the general equations of mutation induction for the male and female germ cells of critical importance in the mutation process. The frequency of induced mutations will be determined initially by the dose received, the type of radiation and, to some extent at high dose, by the manner in which the dose is received. We have used the modeling analyses to predict the outcomes for two nuclear power plant accident scenarios, the first in which the population receives a chronic dose of 0.1 Gy (10 rad) over a 50-year period, the second in which an equivalent population receives an acute dose of 2 Gy. In both cases the analyses are projected over a period of five generations

  7. Genetic effects

    International Nuclear Information System (INIS)

    Abrahamson, S.; Bender, M.; Denniston, C.; Schull, W.

    1985-01-01

    Modeling analyses are used to predict the outcomes for two nuclear power plant accident scenarios, the first in which the population received a chronic dose of 0.1 Gy (10 rad) over a 50 year period, the second in which an equivalent population receives acute dose of 2 Gy. In both cases the analyses are projected over a period of five generations. The risk analysis takes on two major forms: the increase in genetic disease that would be observed in the immediate offspring of the exposed population, and the subsequent transmission of the newly induced mutations through future generations. The classes of genetic diseases studied are: dominant gene mutation, X-linked gene mutation, chromosome disorders and multifactorial disorders which involve the interaction of many mutant genes and environmental factors. 28 references, 3 figures, 5 tables

  8. Cancer Genetics Services Directory

    Science.gov (United States)

    ... Services Directory Cancer Prevention Overview Research NCI Cancer Genetics Services Directory This directory lists professionals who provide services related to cancer genetics (cancer risk assessment, genetic counseling, genetic susceptibility testing, ...

  9. Molecular genetics

    International Nuclear Information System (INIS)

    Kubitschek, H.E.

    1975-01-01

    Progress is reported on studies on the nature and action of lethal and mutagenic lesions in DNA and the mechanisms by which these are produced in bacteria by ionizing radiation or by decay of radioisotopes incorporated in DNA. Studies of radioisotope decay provide the advantages that the original lesion is localized in the genetic material and the immediate physical and chemical changes that occur at decay are known. Specific types of DNA damage were related to characteristic decay properties of several radioisotopes. Incorporated 125 I, for example, induces a double-stranded break in DNA with almost every decay, but causes remarkably little damage of any other kind to the DNA. (U.S.)

  10. Genetics and Rheumatic Disease

    Science.gov (United States)

    ... Well with Rheumatic Disease Genetics and Rheumatic Disease Genetics and Rheumatic Disease Fast Facts Studying twins has ... 70%, and for non-identical pairs, even lower. Genetics and ankylosing spondylitis Each rheumatic disease has its ...

  11. Genetic programming in microorganisms

    Energy Technology Data Exchange (ETDEWEB)

    Hopwood, D A

    1981-11-01

    Formerly, when microbiologists had only existing organisms at their disposal whose characteristics could only be changed randomly by genetic experiments, they used to dream of programmed genetic changes. This dream has come true with modern genetic engineering.

  12. Inspirations in medical genetics.

    Science.gov (United States)

    Asadollahi, Reza

    2016-02-01

    There are abundant instances in the history of genetics and medical genetics to illustrate how curiosity, charisma of mentors, nature, art, the saving of lives and many other matters have inspired great discoveries. These achievements from deciphering genetic concepts to characterizing genetic disorders have been crucial for management of the patients. There remains, however, a long pathway ahead. © The Author(s) 2014.

  13. What Is Genetic Ancestry Testing?

    Science.gov (United States)

    ... What is genetic ancestry testing? What is genetic ancestry testing? Genetic ancestry testing, or genetic genealogy, is ... with other groups. For more information about genetic ancestry testing: The University of Utah provides video tutorials ...

  14. MMS induction of different types of genetic damage in Aspergillus nidulans: a comparative analysis in mutagenesis.

    Science.gov (United States)

    Gualandi, G; Bellincampi, D; Puppo, S

    1979-09-01

    Methyl methanesulphonate (MMS) was used to test the induction of gene mutation, somatic crossing-over and mitotic non-disjunction in A. nidulans. Gene mutation was tested by inducing mutants resistant to 8-azaguanine and revertants of methG1 in a haploid strain. Somatic crossing-over was tested in heterozygous diploids, both with a selective method, i.e. inducing homozygosis to FPA resistance in a heterozygous fpa A1/+ strain, and with a non-selective method, i.e. identifying the frequencies of colour sectors. This latter method was also used to estimate the induction of non-disjunction because additional markers were present which permitted us to distinguish the two types of colour segregant. Generally, 3 different experimental procedures were used, namely the "plate test", i.e. plating of conidia in agar media containing MMS, and two types of "liquid test", i.e. brief treatment of quiescent or pre-germinated conidia in MMS solution before they were plated on agar media. Point mutations were induced with about equal efficiency with each method, whereas crossing-over was induced preferentially when germinating conidia were exposed to MMS. On the other hand, non-disjunction was induced in germinating and quiescent spores with equal efficiency, but such segregants were not recovered with the selective (fpa) method. The results are discussed for both their practical use in the mutagenic testing procedure and their theoretical implication.

  15. 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 ...

  16. Genetic Brain Disorders

    Science.gov (United States)

    A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form ... mutation is a change in a gene. Genetic brain disorders affect the development and function of the ...

  17. Genetic Testing for ALS

    Science.gov (United States)

    ... genetic counselor can help you work through the pros and cons of genetic testing based on your ... showing symptoms or what their progression will be. Technology is changing rapidly and costs of testing are ...

  18. Genetically engineered foods

    Science.gov (United States)

    Bioengineered foods; GMOs; Genetically modified foods ... helps speed up the process of creating new foods with desired traits. The possible benefits of genetic engineering include: More nutritious food Tastier food Disease- and ...

  19. Prenatal screening and genetics

    DEFF Research Database (Denmark)

    Alderson, P; Aro, A R; Dragonas, T

    2001-01-01

    Although the term 'genetic screening' has been used for decades, this paper discusses how, in its most precise meaning, genetic screening has not yet been widely introduced. 'Prenatal screening' is often confused with 'genetic screening'. As we show, these terms have different meanings, and we...... examine definitions of the relevant concepts in order to illustrate this point. The concepts are i) prenatal, ii) genetic screening, iii) screening, scanning and testing, iv) maternal and foetal tests, v) test techniques and vi) genetic conditions. So far, prenatal screening has little connection...... with precisely defined genetics. There are benefits but also disadvantages in overstating current links between them in the term genetic screening. Policy making and professional and public understandings about screening could be clarified if the distinct meanings of prenatal screening and genetic screening were...

  20. Evaluating human genetic diversity

    National Research Council Canada - National Science Library

    This book assesses the scientific value and merit of research on human genetic differences--including a collection of DNA samples that represents the whole of human genetic diversity--and the ethical...

  1. Genetics Home Reference: osteopetrosis

    Science.gov (United States)

    ... A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. ... infantile neuroaxonal dystrophy Genetic Testing Registry: Osteopetrosis autosomal dominant type 1 Genetic Testing Registry: Osteopetrosis autosomal dominant ...

  2. Genetics and Man

    Science.gov (United States)

    Carter, C. O.

    1973-01-01

    Can genetic evolution be controlled by man in a manner which does not violate a civilized, humane, and democratic ethos? The genetics of health and illhealth and of normal variation are discussed with respect to this question. (PEB)

  3. Genetic Science Learning Center

    Science.gov (United States)

    Genetic Science Learning Center Making science and health easy for everyone to understand Home News Our Team What We Do ... Collaboration Conferences Current Projects Publications Contact The Genetic Science Learning Center at The University of Utah is a ...

  4. Genetics Home Reference: homocystinuria

    Science.gov (United States)

    ... an increased risk of abnormal blood clotting, and brittle bones that are prone to fracture ( osteoporosis ) or other ... information about a genetic condition can statistics provide? Why are some genetic conditions more common in particular ...

  5. Protecting genetic privacy.

    Science.gov (United States)

    Roche, P A; Annas, G J

    2001-05-01

    This article outlines the arguments for and against new rules to protect genetic privacy. We explain why genetic information is different to other sensitive medical information, why researchers and biotechnology companies have opposed new rules to protect genetic privacy (and favour anti-discrimination laws instead), and discuss what can be done to protect privacy in relation to genetic-sequence information and to DNA samples themselves.

  6. Genetic Pathways to Insomnia

    OpenAIRE

    Mackenzie J. Lind; Philip R. Gehrman

    2016-01-01

    This review summarizes current research on the genetics of insomnia, as genetic contributions are thought to be important for insomnia etiology. We begin by providing an overview of genetic methods (both quantitative and measured gene), followed by a discussion of the insomnia genetics literature with regard to each of the following common methodologies: twin and family studies, candidate gene studies, and genome-wide association studies (GWAS). Next, we summarize the most recent gene identif...

  7. The genetic difference principle.

    Science.gov (United States)

    Farrelly, Colin

    2004-01-01

    In the newly emerging debates about genetics and justice three distinct principles have begun to emerge concerning what the distributive aim of genetic interventions should be. These principles are: genetic equality, a genetic decent minimum, and the genetic difference principle. In this paper, I examine the rationale of each of these principles and argue that genetic equality and a genetic decent minimum are ill-equipped to tackle what I call the currency problem and the problem of weight. The genetic difference principle is the most promising of the three principles and I develop this principle so that it takes seriously the concerns of just health care and distributive justice in general. Given the strains on public funds for other important social programmes, the costs of pursuing genetic interventions and the nature of genetic interventions, I conclude that a more lax interpretation of the genetic difference principle is appropriate. This interpretation stipulates that genetic inequalities should be arranged so that they are to the greatest reasonable benefit of the least advantaged. Such a proposal is consistent with prioritarianism and provides some practical guidance for non-ideal societies--that is, societies that do not have the endless amount of resources needed to satisfy every requirement of justice.

  8. Phenylketonuria Genetic Screening Simulation

    Science.gov (United States)

    Erickson, Patti

    2012-01-01

    After agreeing to host over 200 students on a daylong genetics field trip, the author needed an easy-to-prepare genetics experiment to accompany the DNA-necklace and gel-electrophoresis activities already planned. One of the student's mothers is a pediatric physician at the local hospital, and she suggested exploring genetic-disease screening…

  9. Genetics Home Reference

    Science.gov (United States)

    ... Page Search Home Health Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Share: Email Facebook Twitter Genetics Home Reference provides consumer-friendly information about the effects of genetic variation on human health. Health Conditions More than 1,200 health ...

  10. Feline genetics: clinical applications and genetic testing.

    Science.gov (United States)

    Lyons, Leslie A

    2010-11-01

    DNA testing for domestic cat diseases and appearance traits is a rapidly growing asset for veterinary medicine. Approximately 33 genes contain 50 mutations that cause feline health problems or alterations in the cat's appearance. A variety of commercial laboratories can now perform cat genetic diagnostics, allowing both the veterinary clinician and the private owner to obtain DNA test results. DNA is easily obtained from a cat via a buccal swab with a standard cotton bud or cytological brush, allowing DNA samples to be easily sent to any laboratory in the world. The DNA test results identify carriers of the traits, predict the incidence of traits from breeding programs, and influence medical prognoses and treatments. An overall goal of identifying these genetic mutations is the correction of the defect via gene therapies and designer drug therapies. Thus, genetic testing is an effective preventative medicine and a potential ultimate cure. However, genetic diagnostic tests may still be novel for many veterinary practitioners and their application in the clinical setting needs to have the same scrutiny as any other diagnostic procedure. This article will review the genetic tests for the domestic cat, potential sources of error for genetic testing, and the pros and cons of DNA results in veterinary medicine. Highlighted are genetic tests specific to the individual cat, which are a part of the cat's internal genome. Copyright © 2010 Elsevier Inc. All rights reserved.

  11. Preimplantation Genetic Screening and Preimplantation Genetic Diagnosis.

    Science.gov (United States)

    Sullivan-Pyke, Chantae; Dokras, Anuja

    2018-03-01

    Preimplantation genetic testing encompasses preimplantation genetic screening (PGS) and preimplantation genetic diagnosis (PGD). PGS improves success rates of in vitro fertilization by ensuring the transfer of euploid embryos that have a higher chance of implantation and resulting in a live birth. PGD enables the identification of embryos with specific disease-causing mutations and transfer of unaffected embryos. The development of whole genome amplification and genomic tools, including single nucleotide polymorphism microarrays, comparative genomic hybridization microarrays, and next-generation sequencing, has led to faster, more accurate diagnoses that translate to improved pregnancy and live birth rates. Copyright © 2017 Elsevier Inc. All rights reserved.

  12. What Is Genetic Ancestry Testing?

    Science.gov (United States)

    ... consumer genetic testing? What kinds of direct-to-consumer genetic tests are available? What is genetic ancestry testing? What are the benefits and risks of direct-to-consumer genetic testing? ...

  13. Prenatal Genetic Counseling (For Parents)

    Science.gov (United States)

    ... Videos for Educators Search English Español Prenatal Genetic Counseling KidsHealth / For Parents / Prenatal Genetic Counseling What's in ... can they help your family? What Is Genetic Counseling? Genetic counseling is the process of: evaluating family ...

  14. All about Genetics (For Parents)

    Science.gov (United States)

    ... Videos for Educators Search English Español All About Genetics KidsHealth / For Parents / All About Genetics What's in ... the way they pick up special laboratory dyes. Genetic Problems Errors in the genetic code or "gene ...

  15. Molecular genetics made simple

    Directory of Open Access Journals (Sweden)

    Heba Sh. Kassem

    2012-07-01

    Full Text Available Genetics have undoubtedly become an integral part of biomedical science and clinical practice, with important implications in deciphering disease pathogenesis and progression, identifying diagnostic and prognostic markers, as well as designing better targeted treatments. The exponential growth of our understanding of different genetic concepts is paralleled by a growing list of genetic terminology that can easily intimidate the unfamiliar reader. Rendering genetics incomprehensible to the clinician however, defeats the very essence of genetic research: its utilization for combating disease and improving quality of life. Herein we attempt to correct this notion by presenting the basic genetic concepts along with their usefulness in the cardiology clinic. Bringing genetics closer to the clinician will enable its harmonious incorporation into clinical care, thus not only restoring our perception of its simple and elegant nature, but importantly ensuring the maximal benefit for our patients.

  16. Molecular genetics made simple

    Science.gov (United States)

    Kassem, Heba Sh.; Girolami, Francesca; Sanoudou, Despina

    2012-01-01

    Abstract Genetics have undoubtedly become an integral part of biomedical science and clinical practice, with important implications in deciphering disease pathogenesis and progression, identifying diagnostic and prognostic markers, as well as designing better targeted treatments. The exponential growth of our understanding of different genetic concepts is paralleled by a growing list of genetic terminology that can easily intimidate the unfamiliar reader. Rendering genetics incomprehensible to the clinician however, defeats the very essence of genetic research: its utilization for combating disease and improving quality of life. Herein we attempt to correct this notion by presenting the basic genetic concepts along with their usefulness in the cardiology clinic. Bringing genetics closer to the clinician will enable its harmonious incorporation into clinical care, thus not only restoring our perception of its simple and elegant nature, but importantly ensuring the maximal benefit for our patients. PMID:25610837

  17. BPA genetic monitoring - BPA Genetic Monitoring Project

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — Initiated in 1989, this study monitors genetic changes associated with hatchery propagation in multiple Snake River sub-basins for Chinook salmon and steelhead. We...

  18. Molecular Population Genetics.

    Science.gov (United States)

    Casillas, Sònia; Barbadilla, Antonio

    2017-03-01

    Molecular population genetics aims to explain genetic variation and molecular evolution from population genetics principles. The field was born 50 years ago with the first measures of genetic variation in allozyme loci, continued with the nucleotide sequencing era, and is currently in the era of population genomics. During this period, molecular population genetics has been revolutionized by progress in data acquisition and theoretical developments. The conceptual elegance of the neutral theory of molecular evolution or the footprint carved by natural selection on the patterns of genetic variation are two examples of the vast number of inspiring findings of population genetics research. Since the inception of the field, Drosophila has been the prominent model species: molecular variation in populations was first described in Drosophila and most of the population genetics hypotheses were tested in Drosophila species. In this review, we describe the main concepts, methods, and landmarks of molecular population genetics, using the Drosophila model as a reference. We describe the different genetic data sets made available by advances in molecular technologies, and the theoretical developments fostered by these data. Finally, we review the results and new insights provided by the population genomics approach, and conclude by enumerating challenges and new lines of inquiry posed by increasingly large population scale sequence data. Copyright © 2017 Casillas and Barbadilla.

  19. Genetics of nonsyndromic obesity.

    Science.gov (United States)

    Lee, Yung Seng

    2013-12-01

    Common obesity is widely regarded as a complex, multifactorial trait influenced by the 'obesogenic' environment, sedentary behavior, and genetic susceptibility contributed by common and rare genetic variants. This review describes the recent advances in understanding the role of genetics in obesity. New susceptibility loci and genetic variants are being uncovered, but the collective effect is relatively small and could not explain most of the BMI heritability. Yet-to-be identified common and rare variants, epistasis, and heritable epigenetic changes may account for part of the 'missing heritability'. Evidence is emerging about the role of epigenetics in determining obesity susceptibility, mediating developmental plasticity, which confers obesity risk from early life experiences. Genetic prediction scores derived from selected genetic variants, and also differential DNA methylation levels and methylation scores, have been shown to correlate with measures of obesity and response to weight loss intervention. Genetic variants, which confer susceptibility to obesity-related morbidities like nonalcoholic fatty liver disease, were also discovered recently. We can expect discovery of more rare genetic variants with the advent of whole exome and genome sequencing, and also greater understanding of epigenetic mechanisms by which environment influences genetic expression and which mediate the gene-environment interaction.

  20. Preimplantation genetic screening.

    Science.gov (United States)

    Harper, Joyce C

    2018-03-01

    Preimplantation genetic diagnosis was first successfully performed in 1989 as an alternative to prenatal diagnosis for couples at risk of transmitting a genetic or chromosomal abnormality, such as cystic fibrosis, to their child. From embryos generated in vitro, biopsied cells are genetically tested. From the mid-1990s, this technology has been employed as an embryo selection tool for patients undergoing in vitro fertilisation, screening as many chromosomes as possible, in the hope that selecting chromosomally normal embryos will lead to higher implantation and decreased miscarriage rates. This procedure, preimplantation genetic screening, was initially performed using fluorescent in situ hybridisation, but 11 randomised controlled trials of screening using this technique showed no improvement in in vitro fertilisation delivery rates. Progress in genetic testing has led to the introduction of array comparative genomic hybridisation, quantitative polymerase chain reaction, and next generation sequencing for preimplantation genetic screening, and three small randomised controlled trials of preimplantation genetic screening using these new techniques indicate a modest benefit. Other trials are still in progress but, regardless of their results, preimplantation genetic screening is now being offered globally. In the near future, it is likely that sequencing will be used to screen the full genetic code of the embryo.

  1. Towards a genetic architecture of cryptic genetic variation

    Indian Academy of Sciences (India)

    Home; Journals; Journal of Genetics; Volume 84; Issue 3. Towards a genetic architecture of cryptic genetic variation and genetic assimilation: the contribution of K. G. Bateman. Ian Dworkin. Commentary on J. Genet. Classic Volume 84 Issue 3 December 2005 pp 223-226 ...

  2. Genetic Testing Registry

    Science.gov (United States)

    ... RefSeqGene UniGene All Genes & Expression Resources... Genetics & Medicine Bookshelf Database of Genotypes and Phenotypes (dbGaP) Genetic Testing ... ProtMap HomoloGene Protein Clusters All Homology Resources... Literature Bookshelf E-Utilities Journals in NCBI Databases MeSH Database ...

  3. Genetics in the courts

    Energy Technology Data Exchange (ETDEWEB)

    Coyle, Heather; Drell, Dan

    2000-12-01

    Various: (1)TriState 2000 Genetics in the Courts (2) Growing impact of the new genetics on the courts (3)Human testing (4) Legal analysis - in re G.C. (5) Legal analysis - GM ''peanots'', and (6) Legal analysis for State vs Miller

  4. Quo Vadis, Medical Genetics?

    Science.gov (United States)

    Czeizel, Andrew E.

    The beginning of human genetics and its medical part: medical genetics was promising in the early decades of this century. Many genetic diseases and defects with Mendelian origin were identified and it helped families with significant genetic burden to limit their child number. Unfortunately this good start was shadowed by two tragic events. On the one hand, in the 1930s and early 1940s the German fascism brought about the dominance of an unscientific eugenics to mask vile political crimes. People with genetic diseases-defects were forced to sterilisation and several of them were killed. On the other hand, in the 1950s lysenkoism inhibitied the evolution of genetics in the Soviet Union and their satelite countries. Lysenko's doctrine declared genetics as a product of imperialism and a guilty science, therefore leading geneticists were ousted form their posts and some of them were executed or put in prison. Past decades genetics has resulted fantastic new results and achieved a leading position within the natural sciences. To my mind, however, the expected wider use of new eugenics indicates a new tragedy and this Cassandra's prediction is the topic of this presentation.

  5. Formal genetic maps

    African Journals Online (AJOL)

    Mohammad Saad Zaghloul Salem

    2014-12-24

    Dec 24, 2014 ... ome/transcriptome/proteome, experimental induced maps that are intentionally designed and con- ... genetic maps imposed their application in nearly all fields of medical genetics including ..... or genes located adjacent to, or near, them. ...... types of markers, e.g., clinical markers (eye color), genomic.

  6. Cryptic Genetic Variation in Evolutionary Developmental Genetics

    Directory of Open Access Journals (Sweden)

    Annalise B. Paaby

    2016-06-01

    Full Text Available Evolutionary developmental genetics has traditionally been conducted by two groups: Molecular evolutionists who emphasize divergence between species or higher taxa, and quantitative geneticists who study variation within species. Neither approach really comes to grips with the complexities of evolutionary transitions, particularly in light of the realization from genome-wide association studies that most complex traits fit an infinitesimal architecture, being influenced by thousands of loci. This paper discusses robustness, plasticity and lability, phenomena that we argue potentiate major evolutionary changes and provide a bridge between the conceptual treatments of macro- and micro-evolution. We offer cryptic genetic variation and conditional neutrality as mechanisms by which standing genetic variation can lead to developmental system drift and, sheltered within canalized processes, may facilitate developmental transitions and the evolution of novelty. Synthesis of the two dominant perspectives will require recognition that adaptation, divergence, drift and stability all depend on similar underlying quantitative genetic processes—processes that cannot be fully observed in continuously varying visible traits.

  7. Genetics of aggression.

    Science.gov (United States)

    Anholt, Robert R H; Mackay, Trudy F C

    2012-01-01

    Aggression mediates competition for food, mating partners, and habitats and, among social animals, establishes stable dominance hierarchies. In humans, abnormal aggression is a hallmark of neuropsychiatric disorders and can be elicited by environmental factors acting on an underlying genetic susceptibility. Identifying the genetic architecture that predisposes to aggressive behavior in people is challenging because of difficulties in quantifying the phenotype, genetic heterogeneity, and uncontrolled environmental conditions. Studies on mice have identified single-gene mutations that result in hyperaggression, contingent on genetic background. These studies can be complemented by systems genetics approaches in Drosophila melanogaster, in which mutational analyses together with genome-wide transcript analyses, artificial selection studies, and genome-wide analysis of epistasis have revealed that a large segment of the genome contributes to the manifestation of aggressive behavior with widespread epistatic interactions. Comparative genomic analyses based on the principle of evolutionary conservation are needed to enable a complete dissection of the neurogenetic underpinnings of this universal fitness trait.

  8. Genetic improvement of vegetables

    International Nuclear Information System (INIS)

    Jaramillo Vasquez, J.G.

    2001-01-01

    Some genetic bases of the improvement of vegetables are given. The objectives of the genetic improvement and the fundamental stages of this process are done. The sources of genetic variation are indicated and they are related the reproduction systems of the main horticultural species. It is analyzed the concept of genetic inheritance like base to determine the procedures more appropriate of improvement. The approaches are discussed, has more than enough phenotypic value, genetic action and genotypic variance; Equally the heredability concepts and value of improvement. The conventional methods of improvement are described, like they are: the introduction of species or varieties, the selection, the pure line, the pedigree method, the selection for families, the recurrent selection, the selection for unique seed, the haploids method, the selection for heterosis and the synthetic varieties

  9. PCR in forensic genetics

    DEFF Research Database (Denmark)

    Morling, Niels

    2009-01-01

    Since the introduction in the mid-1980s of analyses of minisatellites for DNA analyses, a revolution has taken place in forensic genetics. The subsequent invention of the PCR made it possible to develop forensic genetics tools that allow both very informative routine investigations and still more...... and more advanced, special investigations in cases concerning crime, paternity, relationship, disaster victim identification etc. The present review gives an update on the use of DNA investigations in forensic genetics.......Since the introduction in the mid-1980s of analyses of minisatellites for DNA analyses, a revolution has taken place in forensic genetics. The subsequent invention of the PCR made it possible to develop forensic genetics tools that allow both very informative routine investigations and still more...

  10. Genetics Home Reference: isolated growth hormone deficiency

    Science.gov (United States)

    ... can be inherited? More about Inheriting Genetic Conditions Diagnosis & Management Resources Genetic Testing (4 links) Genetic Testing Registry: Ateleiotic dwarfism Genetic Testing Registry: Autosomal dominant isolated somatotropin deficiency ...

  11. Genetic variation and its maintenance

    International Nuclear Information System (INIS)

    Roberts, D.F.; De Stefano, G.F.

    1986-01-01

    This book contains several papers divided among three sections. The section titles are: Genetic Diversity--Its Dimensions; Genetic Diversity--Its Origin and Maintenance; and Genetic Diversity--Applications and Problems of Complex Characters

  12. 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: ...

  13. Genetic heterogeneity of retinitis pigmentosa

    OpenAIRE

    Hartono, Hartono

    2015-01-01

    Genetic heterogeneity is a phenomenon in which a genetic disease can be transmitted by several modes of inheritance. The understanding of genetic heterogeneity is important in giving genetic counselling.The presence of genetic heterogeneity can be explained by the existence of:1.different mutant alleles at a single locus, and2.mutant alleles at different loci affecting the same enzyme or protein, or affecting different enzymes or proteins.To have an overall understanding of genetic heterogene...

  14. Radiation-induced meiotic autosomal non-disjunction in male mice

    International Nuclear Information System (INIS)

    Nijhoff, J.H.; Boer, P. de

    1980-01-01

    Male mice, heterozygous for the Rb(11.13)4Bnr translocation, were irradiated for 14.5 min with either a dose of 15-rad fission neutrons or 60-rad X-rays. Animals of this karyotype are known to show high levels of spontaneous autosomal non- disjunction (20-30%) after anaphase I. The effects of the irradiation on this process were determined after 2 and 3 h in air-dried preparations. The length of the period from the end of meiosis I till the end of meiosis II was assessed autoradiographically, with the aid of cells showing a labelled Y chromosome only and appeared to last less than 3 h. Inter-mouse variation with regard to the duration of the period last premeiotic S-phase till diakinesis/metaphase I prevented a more accurate estimate. On the basis of this 3-h datum, the induced effects were studied at intervals of 2 and 3 h after the start of the irradiation. The influence of irradiation was assessed by scoring: (1) univalents in primary spermatocytes, (2) delections, aneuploid chromosome counts and precocious centromere separation in secondary spermatocytes, and (3) chromatid gaps and breaks in both cell types. Both radiation types induced comparable levels of chromosomal damage. A neutron X-rays RBE value for these parameters was calculated to be 5.4 for the MI stage and 3.3. for the MII stage. The significantly higher incidence of cells showing damage at MII than at diakinesis/MI is not believed to indicate a difference in radiation sensitivity, but is believed to be merely the consequence of the different chromosomal processes taking place during the irradiation taking place during the irradiation-fixation time interval. (orig.)

  15. The detection of chromosome non-disjunction in the yeast Saccharomyces Cerevisiae

    International Nuclear Information System (INIS)

    Parry, J.M.

    1977-01-01

    A number of strains of yeast are described which are capable of detecting the induction of monosomic cells (2n-1) during mitosis and disomic spores (n+1) during meiosis by the plating of treated cells upon selective media. Amongst the chemicals tested for their possible effects upon chromosome loss we have detected significant activity after treatment with folic acid antagonists such as sulphacetamide as well as with the synthetic oestrogen stilboestrol diproprionate. Increases in the frequency of disomic spores were demonstrated after meiotic division following treatment of cells with both UV light and the amino acid analogue p-fluorophenyl-alanine. (Auth.)

  16. Genetic effects of radiation

    International Nuclear Information System (INIS)

    Selby, P.B.

    1977-01-01

    Many of the most important findings concerning the genetic effects of radiation have been obtained in the Biology Division of Oak Ridge National Laboratory. The paper focuses on some of the major discoveries made in the Biology Division and on a new method of research that assesses damage to the skeletons of mice whose fathers were irradiated. The results discussed have considerable influence upon estimates of genetic risk in humans from radiation, and an attempt is made to put the estimated amount of genetic damage caused by projected nuclear power development into its proper perspective

  17. Genetically Engineered Cyanobacteria

    Science.gov (United States)

    Zhou, Ruanbao (Inventor); Gibbons, William (Inventor)

    2015-01-01

    The disclosed embodiments provide cyanobacteria spp. that have been genetically engineered to have increased production of carbon-based products of interest. These genetically engineered hosts efficiently convert carbon dioxide and light into carbon-based products of interest such as long chained hydrocarbons. Several constructs containing polynucleotides encoding enzymes active in the metabolic pathways of cyanobacteria are disclosed. In many instances, the cyanobacteria strains have been further genetically modified to optimize production of the carbon-based products of interest. The optimization includes both up-regulation and down-regulation of particular genes.

  18. Statistics for Learning Genetics

    Science.gov (United States)

    Charles, Abigail Sheena

    This study investigated the knowledge and skills that biology students may need to help them understand statistics/mathematics as it applies to genetics. The data are based on analyses of current representative genetics texts, practicing genetics professors' perspectives, and more directly, students' perceptions of, and performance in, doing statistically-based genetics problems. This issue is at the emerging edge of modern college-level genetics instruction, and this study attempts to identify key theoretical components for creating a specialized biological statistics curriculum. The goal of this curriculum will be to prepare biology students with the skills for assimilating quantitatively-based genetic processes, increasingly at the forefront of modern genetics. To fulfill this, two college level classes at two universities were surveyed. One university was located in the northeastern US and the other in the West Indies. There was a sample size of 42 students and a supplementary interview was administered to a select 9 students. Interviews were also administered to professors in the field in order to gain insight into the teaching of statistics in genetics. Key findings indicated that students had very little to no background in statistics (55%). Although students did perform well on exams with 60% of the population receiving an A or B grade, 77% of them did not offer good explanations on a probability question associated with the normal distribution provided in the survey. The scope and presentation of the applicable statistics/mathematics in some of the most used textbooks in genetics teaching, as well as genetics syllabi used by instructors do not help the issue. It was found that the text books, often times, either did not give effective explanations for students, or completely left out certain topics. The omission of certain statistical/mathematical oriented topics was seen to be also true with the genetics syllabi reviewed for this study. Nonetheless

  19. Preimplantation genetic diagnosis

    DEFF Research Database (Denmark)

    Bay, Bjorn; Ingerslev, Hans Jakob; Lemmen, Josephine Gabriela

    2016-01-01

    OBJECTIVE: To study whether women conceiving after preimplantation genetic diagnosis (PGD) and their children have greater risks of adverse pregnancy and birth outcomes compared with children conceived spontaneously or after IVF with or without intracytoplasmic sperm injection (ICSI). DESIGN...

  20. Genetics and Neuromuscular Diseases

    Science.gov (United States)

    ... Testing that reveals a young child’s genet- ic destiny may affect relationships within the family or may ... linked inheritance don’t apply at all. An embryo receives its mitochondria from the mother’s egg cell, ...

  1. LSD and Genetic Damage

    Science.gov (United States)

    Dishotsky, Norman I.; And Others

    1971-01-01

    Reviews studies of the effects of lysergic acid diethylamide (LSD) on man and other organisms. Concludes that pure LSD injected in moderate doses does not cause chromosome or detectable genetic damage and is not a teratogen or carcinogen. (JM)

  2. 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 ...

  3. Genetics Home Reference: sialuria

    Science.gov (United States)

    ... inheritance of sialuria, an inborn error of feedback inhibition. Am J Hum Genet. 2001 Jun;68(6): ... Links Data Files & API Site Map Subscribe Customer Support USA.gov Copyright Privacy Accessibility FOIA Viewers & Players ...

  4. Genetics of complex diseases

    DEFF Research Database (Denmark)

    Mellerup, Erling; Møller, Gert Lykke; Koefoed, Pernille

    2012-01-01

    A complex disease with an inheritable component is polygenic, meaning that several different changes in DNA are the genetic basis for the disease. Such a disease may also be genetically heterogeneous, meaning that independent changes in DNA, i.e. various genotypes, can be the genetic basis...... for the disease. Each of these genotypes may be characterized by specific combinations of key genetic changes. It is suggested that even if all key changes are found in genes related to the biology of a certain disease, the number of combinations may be so large that the number of different genotypes may be close...... to the number of patients suffering from the disease. This hypothesis is based on a study of bipolar disorder....

  5. Genetics of Diabetes

    Science.gov (United States)

    ... A A A Listen En Español Genetics of Diabetes You've probably wondered how you developed diabetes. ... to develop diabetes than others. What Leads to Diabetes? Type 1 and type 2 diabetes have different ...

  6. [The genetics of addictions].

    Science.gov (United States)

    Ibañez Cuadrado, Angela

    2008-01-01

    The addictions are common chronic psychiatric diseases which represent a serious worldwide public-health problem. They have a high prevalence and negative effects at individual, family and societal level, with a high sanitary cost. Epidemiological genetic research has revealed that addictions are moderately to highly heritable. Also the investigation has evidenced that environmental and genetic factors contribute to individual differences in vulnerability to addictions. Advances in the neurobiology of addiction joined to the development of new molecular genetic technologies, have led to the identification of a variety of underlying genes and pathways in addiction process, leading to the description of common molecular mechanisms in substance and behaviour dependencies. Identifying gene-environment interactions is a crucial issue in future research. Other major goal in genetic research is the identification of new therapeutic targets for treatment and prevention.

  7. Genetics for the ophthalmologist

    Directory of Open Access Journals (Sweden)

    Karthikeyan A Sadagopan

    2012-01-01

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

  8. Genetics Home Reference: sitosterolemia

    Science.gov (United States)

    ... also helps regulate cholesterol levels in a similar fashion; normally about 50 percent of cholesterol in the ... 10 All Bulletins Features What is direct-to-consumer genetic testing? What are genome editing and CRISPR- ...

  9. Review of genetic concepts

    International Nuclear Information System (INIS)

    Robinson, A.

    1984-01-01

    In recent years, practitioners of medicine have become increasingly aware of the importance of genetics in the understanding of physical and mental health and in the management of disease. The last decades have witnessed unprecedented developments in genetics that have increased our understanding of the basic processes of heredity enormously. New techniques and understanding have provided insights directly applicable to medicine. The fundamental fact of heredity may be considered the ability of living organisms to produce offspring that resemble their parents more than others. One of the basic characteristics of the human condition is the uniqueness and diversity of all individuals. This results from their genetic individuality (with the exception of identical twins) and the interaction of the genetic constitution (the genome) with the environment, which is generally unique to the individual as well. In short, the interaction of genes with the environment is what confers biologic uniqueness to all humans

  10. Genetic Sample Inventory

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — This database archives genetic tissue samples from marine mammals collected primarily from the U.S. east coast. The collection includes samples from field programs,...

  11. Specific Genetic Disorders

    Science.gov (United States)

    ... Care Genomic Medicine Working Group New Horizons and Research Patient Management Policy and Ethics Issues Quick Links for Patient Care Education All About the Human Genome Project Fact Sheets Genetic Education Resources for ...

  12. Genetic Mutations in Cancer

    Science.gov (United States)

    Many different types of genetic mutations are found in cancer cells. This infographic outlines certain types of alterations that are present in cancer, such as missense, nonsense, frameshift, and chromosome rearrangements.

  13. Genetic Sample Inventory - NRDA

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — This database archives genetic tissue samples from marine mammals collected in the North-Central Gulf of Mexico from 2010-2015. The collection includes samples from...

  14. Regulation of Genetic Tests

    Science.gov (United States)

    ... for Genomics Research Intellectual Property Issues in Genetics Archive Online Bioethics Resources Privacy in Genomics Regulation of ... are not regulated, meaning that they go to market without any independent analysis to verify the claims ...

  15. Genetics of osteoarthritis.

    Science.gov (United States)

    Rodriguez-Fontenla, Cristina; Gonzalez, Antonio

    2015-01-01

    Osteoarthritis (OA) is a complex disease caused by the interaction of multiple genetic and environmental factors. This review focuses on the studies that have contributed to the discovery of genetic susceptibility factors in OA. The most relevant associations discovered until now are discussed in detail: GDF-5, 7q22 locus, MCF2L, DOT1L, NCOA3 and also some important findings from the arcOGEN study. Moreover, the different approaches that can be used to minimize the specific problems of the study of OA genetics are discussed. These include the study of microsatellites, phenotype standardization and other methods such as meta-analysis of GWAS and gene-based analysis. It is expected that these new approaches contribute to finding new susceptibility genetic factors for OA. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

  16. Evaluating human genetic diversity

    National Research Council Canada - National Science Library

    ... into human evolution and origins and serving as a springboard for important medical research. It also addresses issues of confidentiality and individual privacy for participants in genetic diversity research studies.

  17. 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 ...

  18. Genetics of bipolar disorder

    Directory of Open Access Journals (Sweden)

    Kerner B

    2014-02-01

    Full Text Available Berit Kerner Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA Abstract: Bipolar disorder is a common, complex genetic disorder, but the mode of transmission remains to be discovered. Many researchers assume that common genomic variants carry some risk for manifesting the disease. The research community has celebrated the first genome-wide significant associations between common single nucleotide polymorphisms (SNPs and bipolar disorder. Currently, attempts are under way to translate these findings into clinical practice, genetic counseling, and predictive testing. However, some experts remain cautious. After all, common variants explain only a very small percentage of the genetic risk, and functional consequences of the discovered SNPs are inconclusive. Furthermore, the associated SNPs are not disease specific, and the majority of individuals with a “risk” allele are healthy. On the other hand, population-based genome-wide studies in psychiatric disorders have rediscovered rare structural variants and mutations in genes, which were previously known to cause genetic syndromes and monogenic Mendelian disorders. In many Mendelian syndromes, psychiatric symptoms are prevalent. Although these conditions do not fit the classic description of any specific psychiatric disorder, they often show nonspecific psychiatric symptoms that cross diagnostic boundaries, including intellectual disability, behavioral abnormalities, mood disorders, anxiety disorders, attention deficit, impulse control deficit, and psychosis. Although testing for chromosomal disorders and monogenic Mendelian disorders is well established, testing for common variants is still controversial. The standard concept of genetic testing includes at least three broad criteria that need to be fulfilled before new genetic tests should be introduced: analytical validity, clinical validity, and clinical utility. These criteria are

  19. Applications of Genetic Programming

    DEFF Research Database (Denmark)

    Gaunholt, Hans; Toma, Laura

    1996-01-01

    In this report a study of genetic programming (GP) has been performed with respect to a number of applications such as Symbolic function regression, Solving Symbolic Differential Equations, Image encoding, the ant problem etc.......In this report a study of genetic programming (GP) has been performed with respect to a number of applications such as Symbolic function regression, Solving Symbolic Differential Equations, Image encoding, the ant problem etc....

  20. Genetics and developmental biology

    International Nuclear Information System (INIS)

    Barnett, W.E.

    1975-01-01

    Progress is reported on research activities in the fields of mutagenesis in Haemophilus influenzae and Escherichia coli; radioinduced chromosomal aberrations in mammalian germ cells; effects of uv radiation on xeroderma pigmentosum skin cells; mutations in Chinese hamster ovary cells; radioinduced hemoglobin variants in the mouse; analysis of mutants in yeast; Drosophila genetics; biochemical genetics of Neurospora; DNA polymerase activity in Xenopus laevis oocytes; uv-induced damage in Bacillus subtilis; and others

  1. Christianity, health, and genetics.

    Science.gov (United States)

    Smith, David H

    2009-02-15

    Health is an intrinsic value that Christians should respect, but it is not the highest value. Christians should be willing to jeopardize their own health for the health of others, and should repudiate any idea that genetic problems are the result of sin. Rather, sin leads us to make genetic problems harder to live with than they should be. (c) 2009 Wiley-Liss, Inc.

  2. Somatic and genetic effects

    International Nuclear Information System (INIS)

    Broerse, J.J.; Barendsen, G.W.; Kal, H.B.; Kogel, A.J. van der

    1983-01-01

    This book contains the extended abstracts of the contributions of the poster workshop sessions on somatic and genetic effects of the 7th international congress of radiation research. They cover the following main topics: haematopoietic and immune systems, mechanisms of late effects in various tissues, endogenous and exogenous factors in radiation carcinogenesis, teratogenic effects, genetic effects, in vitro transformation, tumour induction in different tissues, carcinogenesis in incorporated tissues, cancer epidemology and risk assessment. refs.; figs.; tabs

  3. Contemporary Genetics for Gender Researchers: Not Your Grandma's Genetics Anymore

    Science.gov (United States)

    Salk, Rachel H.; Hyde, Janet S.

    2012-01-01

    Over the past century, much of genetics was deterministic, and feminist researchers framed justified criticisms of genetics research. However, over the past two decades, genetics research has evolved remarkably and has moved far from earlier deterministic approaches. Our article provides a brief primer on modern genetics, emphasizing contemporary…

  4. 50. Brazilian congress on genetics. 50 years developing genetics. Abstracts

    International Nuclear Information System (INIS)

    2004-01-01

    Use of radioisotopes and ionizing radiations in genetics is presented. Several aspects related to men, animals,plants and microorganisms are reported highlighting biological radiation effects, evolution, mutagenesis and genetic engineering. Genetic mapping, gene mutations, genetic diversity, DNA damages, plant cultivation and plant grow are studied as well

  5. Genetics & sport: bioethical concerns.

    Science.gov (United States)

    Miah, Andy

    2012-12-01

    This paper provides an overview of the ethical issues pertaining to the use of genetic insights and techniques in sport. Initially, it considers a range of scientific findings that have stimulated debate about the ethical issues associated with genetics applied to sport. It also outlines some of the early policy responses to these discoveries from world leading sports organizations, along with knowledge about actual use of gene technologies in sport. Subsequently, it considers the challenges with distinguishing between therapeutic use and human enhancement within genetic science, which is a particularly important issue for the world of sport. Next, particular attention is given to the use of genetic information, which raises questions about the legitimacy and reliability of genetic tests, along with the potential public value of having DNA databanks to economize in health care. Finally, the ethics of gene transfer are considered, inviting questions into the values of sport and humanity. It argues that, while gene modification may seem conceptually similar to other forms of doping, the requirements upon athletes are such that new forms of enhancement become increasingly necessary to discover. Insofar as genetic science is able to create safer, more effective techniques of human modification, then it may be an appealing route through which to modify athletes to safeguard the future of elite sports as enterprises of human excellence.

  6. Genetic and environmental interactions

    International Nuclear Information System (INIS)

    Strong, L.C.

    1977-01-01

    Cancer may result from a multistage process occurring over a long period of time. Presumably, initial and progressive stages of carcinogenesis may be modified by both genetic and environmental factors. Theoretically, genetic factors may alter susceptibility to the carcinogenic effects of an environmental agent at the initial exposure due to variation in metabolism of the carcinogen or variation in specific target cell response to the active carcinogen, or during the latent phase due to numerous factors that might increase the probability of tumor expression, including growth-promoting factors or immunodeficiency states. Observed genetic and environmental interactions in carcinogenesis include an association between genetically determined inducibility of aryl hydrocarbon hydroxylase and smoking-related cancers, familial susceptibility to certain environmental carcinogens, an association between hereditary disorders of mutagenesis and carcinogenesis, and enhancement of tissue-specific, dominantly inherited tumor predisposition by radiation. Multiple primary tumors occur frequently in genetically predisposed individuals. Specific markers for susceptibility must be sought in order that high-risk individuals be identified and appropriate measures taken for early cancer detection or prevention. Study of the nature of the genetically determined susceptibility and interactions with environmental agents may be revealing in the understanding of carcinogenesis in general

  7. [Genetic aspects of genealogy].

    Science.gov (United States)

    Tetushkin, E Iu

    2011-11-01

    The supplementary historical discipline genealogy is also a supplementary genetic discipline. In its formation, genetics borrowed from genealogy some methods of pedigree analysis. In the 21th century, it started receiving contribution from computer-aided genealogy and genetic (molecular) genealogy. The former provides novel tools for genetics, while the latter, which employing genetic methods, enriches genetics with new evidence. Genealogists formulated three main laws ofgenealogy: the law of three generations, the law of doubling the ancestry number, and the law of declining ancestry. The significance and meaning of these laws can be fully understood only in light of genetics. For instance, a controversy between the exponential growth of the number of ancestors of an individual, i.e., the law of doubling the ancestry number, and the limited number of the humankind is explained by the presence of weak inbreeding because of sibs' interference; the latter causes the pedigrees' collapse, i.e., explains also the law of diminishing ancestry number. Mathematic modeling of pedigrees' collapse presented in a number of studies showed that the number of ancestors of each individual attains maximum in a particular generation termed ancestry saturated generation. All representatives of this and preceding generation that left progeny are common ancestors of all current members of the population. In subdivided populations, these generations are more ancient than in panmictic ones, whereas in small isolates and social strata with limited numbers of partners, they are younger. The genealogical law of three generations, according to which each hundred years contain on average three generation intervals, holds for generation lengths for Y-chromosomal DNA, typically equal to 31-32 years; for autosomal and mtDNA, this time is somewhat shorter. Moving along ascending lineas, the number of genetically effective ancestors transmitting their DNA fragment to descendants increases far

  8. From observational to dynamic genetics

    Directory of Open Access Journals (Sweden)

    Claire M. A. Haworth

    2014-01-01

    Full Text Available Twin and family studies have shown that most traits are at least moderately heritable. But what are the implications of finding genetic influence for the design of intervention and prevention programs? For complex traits, heritability does not mean immutability, and research has shown that genetic influences can change with age, context and in response to behavioural and drug interventions. The most significant implications for intervention will come when we move from observational genetics to investigating dynamic genetics, including genetically sensitive interventions. Future interventions should be designed to overcome genetic risk and draw upon genetic strengths by changing the environment.

  9. Genetics of human hydrocephalus

    Science.gov (United States)

    Williams, Michael A.; Rigamonti, Daniele

    2006-01-01

    Human hydrocephalus is a common medical condition that is characterized by abnormalities in the flow or resorption of cerebrospinal fluid (CSF), resulting in ventricular dilatation. Human hydrocephalus can be classified into two clinical forms, congenital and acquired. Hydrocephalus is one of the complex and multifactorial neurological disorders. A growing body of evidence indicates that genetic factors play a major role in the pathogenesis of hydrocephalus. An understanding of the genetic components and mechanism of this complex disorder may offer us significant insights into the molecular etiology of impaired brain development and an accumulation of the cerebrospinal fluid in cerebral compartments during the pathogenesis of hydrocephalus. Genetic studies in animal models have started to open the way for understanding the underlying pathology of hydrocephalus. At least 43 mutants/loci linked to hereditary hydrocephalus have been identified in animal models and humans. Up to date, 9 genes associated with hydrocephalus have been identified in animal models. In contrast, only one such gene has been identified in humans. Most of known hydrocephalus gene products are the important cytokines, growth factors or related molecules in the cellular signal pathways during early brain development. The current molecular genetic evidence from animal models indicate that in the early development stage, impaired and abnormal brain development caused by abnormal cellular signaling and functioning, all these cellular and developmental events would eventually lead to the congenital hydrocephalus. Owing to our very primitive knowledge of the genetics and molecular pathogenesis of human hydrocephalus, it is difficult to evaluate whether data gained from animal models can be extrapolated to humans. Initiation of a large population genetics study in humans will certainly provide invaluable information about the molecular and cellular etiology and the developmental mechanisms of human

  10. How Are Genetic Conditions Treated or Managed?

    Science.gov (United States)

    ... mtDNA Resources Help Me Understand Genetics Share: Email Facebook Twitter Home Help Me Understand Genetics Genetic Consultation How are genetic conditions treated or managed? How are genetic conditions treated or managed? Many ...

  11. Integrated genetic analysis microsystems

    International Nuclear Information System (INIS)

    Lagally, Eric T; Mathies, Richard A

    2004-01-01

    With the completion of the Human Genome Project and the ongoing DNA sequencing of the genomes of other animals, bacteria, plants and others, a wealth of new information about the genetic composition of organisms has become available. However, as the demand for sequence information grows, so does the workload required both to generate this sequence and to use it for targeted genetic analysis. Microfabricated genetic analysis systems are well poised to assist in the collection and use of these data through increased analysis speed, lower analysis cost and higher parallelism leading to increased assay throughput. In addition, such integrated microsystems may point the way to targeted genetic experiments on single cells and in other areas that are otherwise very difficult. Concomitant with these advantages, such systems, when fully integrated, should be capable of forming portable systems for high-speed in situ analyses, enabling a new standard in disciplines such as clinical chemistry, forensics, biowarfare detection and epidemiology. This review will discuss the various technologies available for genetic analysis on the microscale, and efforts to integrate them to form fully functional robust analysis devices. (topical review)

  12. Genetics of gallstone disease.

    Directory of Open Access Journals (Sweden)

    Mittal B

    2002-04-01

    Full Text Available Gallstone disease is a complex disorder where both environmental and genetic factors contribute towards susceptibility to the disease. Epidemiological and family studies suggest a strong genetic component in the causation of this disease. Several genetically derived phenotypes in the population are responsible for variations in lipoprotein types, which in turn affect the amount of cholesterol available in the gall bladder. The genetic polymorphisms in various genes for apo E, apo B, apo A1, LDL receptor, cholesteryl ester transfer and LDL receptor-associated protein have been implicated in gallstone formation. However, presently available information on genetic differences is not able to account for a large number of gallstone patients. The molecular studies in the animal models have not only confirmed the present paradigm of gallstone formation but also helped in identification of novel genes in humans, which might play an important role in pathogenesis of the disease. Precise understanding of such genes and their molecular mechanisms may provide the basis of new targets for rational drug designs and dietary interventions.

  13. Genetic classes and genetic categories : Protecting genetic groups through data protection law

    NARCIS (Netherlands)

    Hallinan, Dara; de Hert, Paul; Taylor, L.; Floridi, L.; van der Sloot, B.

    2017-01-01

    Each person shares genetic code with others. Thus, one individual’s genome can reveal information about other individuals. When multiple individuals share aspects of genetic architecture, they form a ‘genetic group’. From a social and legal perspective, two types of genetic group exist: Those which

  14. Genetics of eosinophilic esophagitis.

    Science.gov (United States)

    Kottyan, L C; Rothenberg, M E

    2017-05-01

    Eosinophilic esophagitis (EoE) is a chronic, allergic disease associated with marked mucosal eosinophil accumulation. EoE disease risk is multifactorial and includes environmental and genetic factors. This review will focus on the contribution of genetic variation to EoE risk, as well as the experimental tools and statistical methodology used to identify EoE risk loci. Specific disease-risk loci that are shared between EoE and other allergic diseases (TSLP, LRRC32) or unique to EoE (CAPN14), as well as Mendellian Disorders associated with EoE, will be reviewed in the context of the insight that they provide into the molecular pathoetiology of EoE. We will also discuss the clinical opportunities that genetic analyses provide in the form of decision support tools, molecular diagnostics, and novel therapeutic approaches.

  15. Archaeal extrachromosomal genetic elements

    DEFF Research Database (Denmark)

    Wang, Haina; Peng, Nan; Shah, Shiraz Ali

    2015-01-01

    SUMMARY: Research on archaeal extrachromosomal genetic elements (ECEs) has progressed rapidly in the past decade. To date, over 60 archaeal viruses and 60 plasmids have been isolated. These archaeal viruses exhibit an exceptional diversity in morphology, with a wide array of shapes, such as spind......SUMMARY: Research on archaeal extrachromosomal genetic elements (ECEs) has progressed rapidly in the past decade. To date, over 60 archaeal viruses and 60 plasmids have been isolated. These archaeal viruses exhibit an exceptional diversity in morphology, with a wide array of shapes...... on archaeal ECEs has just started to unravel the molecular biology of these genetic entities and their interactions with archaeal hosts, it is expected to accelerate in the next decade....

  16. Crystal Genetics, Inc.

    Science.gov (United States)

    Kermani, Bahram G

    2016-07-01

    Crystal Genetics, Inc. is an early-stage genetic test company, focused on achieving the highest possible clinical-grade accuracy and comprehensiveness for detecting germline (e.g., in hereditary cancer) and somatic (e.g., in early cancer detection) mutations. Crystal's mission is to significantly improve the health status of the population, by providing high accuracy, comprehensive, flexible and affordable genetic tests, primarily in cancer. Crystal's philosophy is that when it comes to detecting mutations that are strongly correlated with life-threatening diseases, the detection accuracy of every single mutation counts: a single false-positive error could cause severe anxiety for the patient. And, more importantly, a single false-negative error could potentially cost the patient's life. Crystal's objective is to eliminate both of these error types.

  17. Whakapapa, genealogy and genetics.

    Science.gov (United States)

    Evans, Donald

    2012-05-01

    This paper provides part of an analysis of the use of the Maori term whakapapa in a study designed to test the compatibility and commensurability of views of members of the indigenous culture of New Zealand with other views of genetic technologies extant in the country. It is concerned with the narrow sense of whakapapa as denoting biological ancestry, leaving the wider sense of whakapapa as denoting cultural identity for discussion elsewhere. The phenomenon of genetic curiosity is employed to facilitate this comparison. Four levels of curiosity are identified, in the Maori data, which penetrate more or less deeply into the psyche of individuals, affecting their health and wellbeing. These phenomena are compared with non-Maori experiences and considerable commonalities are discovered together with a point of marked difference. The results raise important questions for the ethical application of genetic technologies. © 2010 Blackwell Publishing Ltd.

  18. Genetic autonomic disorders.

    Science.gov (United States)

    Axelrod, Felicia B

    2013-03-01

    Genetic disorders affecting the autonomic nervous system can result in abnormal development of the nervous system or they can be caused by neurotransmitter imbalance, an ion-channel disturbance or by storage of deleterious material. The symptoms indicating autonomic dysfunction, however, will depend upon whether the genetic lesion has disrupted peripheral or central autonomic centers or both. Because the autonomic nervous system is pervasive and affects every organ system in the body, autonomic dysfunction will result in impaired homeostasis and symptoms will vary. The possibility of genetic confirmation by molecular testing for specific diagnosis is increasing but treatments tend to remain only supportive and directed toward particular symptoms. Copyright © 2013 Elsevier Inc. All rights reserved.

  19. Genetics and caries: prospects

    Directory of Open Access Journals (Sweden)

    Alexandre Rezende Vieira

    2012-01-01

    Full Text Available Caries remains the most prevalent non-contagious infectious disease in humans. It is clear that the current approaches to decrease the prevalence of caries in human populations, including water fluoridation and school-based programs, are not enough to protect everyone. The scientific community has suggested the need for innovative work in a number of areas in cariology, encompassing disease etiology, epidemiology, definition, prevention, and treatment. We have pioneered the work on genetic studies to identify genes and genetic markers of diagnostic, prognostic, and therapeutic value. This paper summarizes a presentation that elaborated on these initial findings.

  20. Burkholderia thailandensis: Genetic Manipulation.

    Science.gov (United States)

    Garcia, Erin C

    2017-05-16

    Burkholderia thailandensis is a Gram-negative bacterium endemic to Southeast Asian and northern Australian soils. It is non-pathogenic; therefore, it is commonly used as a model organism for the related human pathogens Burkholderia mallei and Burkholderia pseudomallei. B. thailandensis is relatively easily genetically manipulated and a variety of robust genetic tools can be used in this organism. This unit describes protocols for conjugation, natural transformation, mini-Tn7 insertion, and allelic exchange in B. thailandensis. © 2017 by John Wiley & Sons, Inc. Copyright © 2017 John Wiley & Sons, Inc.

  1. Basic concepts of medical genetics, formal genetics, Part 1

    African Journals Online (AJOL)

    Mohammad Saad Zaghloul Salem

    2013-11-15

    Nov 15, 2013 ... maps of gene loci based on information gathered, formerly, ... represented as figure or text interface data. Relevant ... The Egyptian Journal of Medical Human Genetics ... prophylactic management and genetic counseling. 17.

  2. Genetic Causes of Rickets

    Science.gov (United States)

    Acar, Sezer; Demir, Korcan; Shi, Yufei

    2017-01-01

    Rickets is a metabolic bone disease that develops as a result of inadequate mineralization of growing bone due to disruption of calcium, phosphorus and/or vitamin D metabolism. Nutritional rickets remains a significant child health problem in developing countries. In addition, several rare genetic causes of rickets have also been described, which can be divided into two groups. The first group consists of genetic disorders of vitamin D biosynthesis and action, such as vitamin D-dependent rickets type 1A (VDDR1A), vitamin D-dependent rickets type 1B (VDDR1B), vitamin D-dependent rickets type 2A (VDDR2A), and vitamin D-dependent rickets type 2B (VDDR2B). The second group involves genetic disorders of excessive renal phosphate loss (hereditary hypophosphatemic rickets) due to impairment in renal tubular phosphate reabsorption as a result of FGF23-related or FGF23-independent causes. In this review, we focus on clinical, laboratory and genetic characteristics of various types of hereditary rickets as well as differential diagnosis and treatment approaches. PMID:29280738

  3. Genetics Home Reference: citrullinemia

    Science.gov (United States)

    ... belongs to a class of genetic diseases called urea cycle disorders. Learn more about the genes associated with citrullinemia ... GeneReview: Citrin Deficiency GeneReview: Citrullinemia Type I GeneReview: Urea Cycle Disorders Overview MedlinePlus Encyclopedia: Hereditary Urea Cycle Abnormality National ...

  4. Genetic risks from radiation

    International Nuclear Information System (INIS)

    Selby, P.B.

    Two widely-recognized committees, UNSCEAR and BEIR, have reevaluated their estimates of genetic risks from radiation. Their estimates for gene mutations are based on two different approaches, one being the doubling-dose approach and the other being a new direct approach based on an empirical determination of the amount of dominant induced damage in the skeletons of mice in the first generation following irradiation. The estimates made by these committees are in reasonably good agreement and suggest that the genetic risks from present exposures resultng from nuclear power production are small. There is room for much improvement in the reliability of the risk estimates. The relatively new approach of measuring the amount of induced damage to the mouse skeleton shows great promise of improving knowledge about how changes in the mutation frequency affect the incidence of genetic disorders. Such findings may have considerable influence on genetic risk estimates for radiation and on the development of risk estimates for other less-well-understood environmental mutagens. (author)

  5. Genetics and acronyms

    Directory of Open Access Journals (Sweden)

    Giovanni Corsello

    2014-06-01

    Full Text Available In a global society as the present, the nomenclature and terminology of diseases must be universally accepted among the specialists. This sentence is particularly true in some fields of medicine, as genetics, in which the progress of knowledge has been particularly rapid in last years.Many genetic disorders were termed using the names of the doctor (or the doctors who discovered and described them.The name of doctors and specialist were also frequently used to term sign and symptoms of diseases, including genetic syndromes.More rarely, a new disease received the name of the first patients described.In some cases the authors clearly proposed acronyms, that rapidly diffused as a good method to term genetic diseases and syndromes.Acronyms can be originated from the initial of main signs and symptoms; in some instances the acronym reproduces a word with other kind of semantic suggestions; some acronyms in their list of initials show also numbers, while others show also the initial of the words related to the physiopathology of disease.In more recent years acronyms were proposed to mark multicentric studies. Proceedings of the 10th International Workshop on Neonatology · Cagliari (Italy · October 22nd-25th, 2014 · The last ten years, the next ten years in Neonatology Guest Editors: Vassilios Fanos, Michele Mussap, Gavino Faa, Apostolos Papageorgiou

  6. Genetic pathways to Neurodegeneration

    Indian Academy of Sciences (India)

    Renu

    The extensive resource on ataxia has led to the development of a clinico-genetic ... Keywords: Cerebellar ataxias, SCAs, ARCAs, NGS, Gene network, iPSCs, .... Besides, mutations in different regions of the same gene result in different ..... integration with population data can also allow focussed testing/screening in specific.

  7. Genetics and variation

    Science.gov (United States)

    John R. Jones; Norbert V. DeByle

    1985-01-01

    The broad genotypic variability in quaking aspen (Populus tremuloides Michx.), that results in equally broad phenotypic variability among clones is important to the ecology and management of this species. This chapter considers principles of aspen genetics and variation, variation in aspen over its range, and local variation among clones. For a more...

  8. Genetically Engineering Entomopathogenic Fungi.

    Science.gov (United States)

    Zhao, H; Lovett, B; Fang, W

    2016-01-01

    Entomopathogenic fungi have been developed as environmentally friendly alternatives to chemical insecticides in biocontrol programs for agricultural pests and vectors of disease. However, mycoinsecticides currently have a small market share due to low virulence and inconsistencies in their performance. Genetic engineering has made it possible to significantly improve the virulence of fungi and their tolerance to adverse conditions. Virulence enhancement has been achieved by engineering fungi to express insect proteins and insecticidal proteins/peptides from insect predators and other insect pathogens, or by overexpressing the pathogen's own genes. Importantly, protein engineering can be used to mix and match functional domains from diverse genes sourced from entomopathogenic fungi and other organisms, producing insecticidal proteins with novel characteristics. Fungal tolerance to abiotic stresses, especially UV radiation, has been greatly improved by introducing into entomopathogens a photoreactivation system from an archaean and pigment synthesis pathways from nonentomopathogenic fungi. Conversely, gene knockout strategies have produced strains with reduced ecological fitness as recipients for genetic engineering to improve virulence; the resulting strains are hypervirulent, but will not persist in the environment. Coupled with their natural insect specificity, safety concerns can also be mitigated by using safe effector proteins with selection marker genes removed after transformation. With the increasing public concern over the continued use of synthetic chemical insecticides and growing public acceptance of genetically modified organisms, new types of biological insecticides produced by genetic engineering offer a range of environmentally friendly options for cost-effective control of insect pests. Copyright © 2016 Elsevier Inc. All rights reserved.

  9. Genetics of celiac disease

    NARCIS (Netherlands)

    Ricano-Ponce, Isis; Wijmenga, Cisca; Gutierrez-Achury, Javier

    New insights into the underlying molecular pathophysiology of celiac disease (CeD) over the last few years have been guided by major advances in the fields of genetics and genomics. The development and use of the Immunochip genotyping platform paved the way for the discovery of 39 non-HLA loci

  10. Paper Genetic Engineering.

    Science.gov (United States)

    MacClintic, Scott D.; Nelson, Genevieve M.

    Bacterial transformation is a commonly used technique in genetic engineering that involves transferring a gene of interest into a bacterial host so that the bacteria can be used to produce large quantities of the gene product. Although several kits are available for performing bacterial transformation in the classroom, students do not always…

  11. The genetics of obesity.

    Science.gov (United States)

    All definitions of the metabolic syndrome include some form of obesity as one of the possible features. Body mass index (BMI) has a known genetic component, currently estimated to account for about 70% of the population variance in weight status for non-syndromal obesity. Much research effort has be...

  12. The genetics of Tamarix

    Science.gov (United States)

    Genetic studies have helped us gain basic knowledge of the Tamarix invasion. We now have a better understanding of the species identities involved in the invasion, their evolutionary relationships, and the contribution of hybridization to the invasion. This information can be used to enhance the eff...

  13. Intelligence, Race, and Genetics

    Science.gov (United States)

    Sternberg, Robert J.; Grigorenko, Elena L.; Kidd, Kenneth K.

    2005-01-01

    In this article, the authors argue that the overwhelming portion of the literature on intelligence, race, and genetics is based on folk taxonomies rather than scientific analysis. They suggest that because theorists of intelligence disagree as to what it is, any consideration of its relationships to other constructs must be tentative at best. They…

  14. Preimplantation genetic diagnosis

    Directory of Open Access Journals (Sweden)

    Karin Writzl

    2013-02-01

    Conclusions: Over the last two decades, PGD has been shown to be a reliable and safe genetic test for couples who are at risk of a specific inher - ited disorder. For PGS, the results from several ongoing randomized controlled trials performed at different cell biopsy stage, using array-CGH and SNP array will provide the data needed to evaluate the clinical efficacy.

  15. Punnett and duck genetics

    Indian Academy of Sciences (India)

    25, 191–194; reprinted in this issue as a J. Genet. classic, pages 3–7) ... 1932, starts with Punnett explaining that he started his work on ducks as he was asked ... text of Punnett's later comments on genes and human mental disease. Punnett's ...

  16. Genetic hazards of radiation

    International Nuclear Information System (INIS)

    Searle, A.G.

    1987-01-01

    The difficulties of quantifying genetic radiation effects are discussed, with reference to studies of atomic bomb survivors, and mouse germ-cells. Doubling dose methods of extrapolation and the problems of quantifying risks of diseases of irregular inheritance are also considered. (U.K.)

  17. Genetic technologies and ethics.

    Science.gov (United States)

    Ardekani, Ali M

    2009-01-01

    In the past decade, the human genome has been completely sequenced and the knowledge from it has begun to influence the fields of biological and social sciences in fundamental ways. Identification of about 25000 genes in the human genome is expected to create great benefits in diagnosis and treatment of diseases in the coming years. However, Genetic technologies have also created many interesting and difficult ethical issues which can affect the human societies now and in the future. Application of genetic technologies in the areas of stem cells, cloning, gene therapy, genetic manipulation, gene selection, sex selection and preimplantation diagnosis has created a great potential for the human race to influence and change human life on earth as we know it today. Therefore, it is important for leaders of societies in the modern world to pay attention to the advances in genetic technologies and prepare themselves and those institutions under their command to face the challenges which these new technologies induce in the areas of ethics, law and social policies.

  18. GENETIC ASPECTS OF AUTISM

    Directory of Open Access Journals (Sweden)

    Anastas LAKOSKI

    1997-06-01

    Full Text Available In the first paper on the syndrome of autism, Kanner described it as innate and inborn. He drew attention to the abnormalities in infancy without evidence of prior normal development and the intellectual, non emotional qualities shown by many of the parents and grandparents. Subsequently, the supposed lack of parental warmth led many clinicians to abandon the notions of constitutional deficit in the child and instead to postulate a psychogenic origin etiology was likely, genetic factors probably did not play a major role. Attention was draw to the low rate of autism in siblings, the lack of chromosome anomalies, and the similarities with syndromes associated with known brain trauma. Although the rate of autism in siblings was indeed low, it was much higher than in the general population rate providing a strong pointer to the genetic factors. The recognition that this was so, associated with the parallel finding of apparently high familiar loading for language delay, stimulated the first, systematic, twin study of autism, which suggested a strong genetic component. Subsequent research has produced findings in the same direction, although many questions remain unanswered. In this paper the evidence that has accumulated on genetic influences on autism is summarized and the remained dilemmas on this field are discussed.

  19. Safe genetically engineered plants

    Energy Technology Data Exchange (ETDEWEB)

    Rosellini, D; Veronesi, F [Dipartimento di Biologia Vegetale e Biotecnologie Agroambientali e Zootecniche, Universita degli Studi di Perugia, Borgo XX giugno 74, 06121 Perugia (Italy)

    2007-10-03

    The application of genetic engineering to plants has provided genetically modified plants (GMPs, or transgenic plants) that are cultivated worldwide on increasing areas. The most widespread GMPs are herbicide-resistant soybean and canola and insect-resistant corn and cotton. New GMPs that produce vaccines, pharmaceutical or industrial proteins, and fortified food are approaching the market. The techniques employed to introduce foreign genes into plants allow a quite good degree of predictability of the results, and their genome is minimally modified. However, some aspects of GMPs have raised concern: (a) control of the insertion site of the introduced DNA sequences into the plant genome and of its mutagenic effect; (b) presence of selectable marker genes conferring resistance to an antibiotic or an herbicide, linked to the useful gene; (c) insertion of undesired bacterial plasmid sequences; and (d) gene flow from transgenic plants to non-transgenic crops or wild plants. In response to public concerns, genetic engineering techniques are continuously being improved. Techniques to direct foreign gene integration into chosen genomic sites, to avoid the use of selectable genes or to remove them from the cultivated plants, to reduce the transfer of undesired bacterial sequences, and make use of alternative, safer selectable genes, are all fields of active research. In our laboratory, some of these new techniques are applied to alfalfa, an important forage plant. These emerging methods for plant genetic engineering are briefly reviewed in this work.

  20. Linear genetic programming

    CERN Document Server

    Brameier, Markus

    2007-01-01

    Presents a variant of Genetic Programming that evolves imperative computer programs as linear sequences of instructions, in contrast to the more traditional functional expressions or syntax trees. This book serves as a reference for researchers, but also contains sufficient introduction for students and those who are new to the field

  1. Safe genetically engineered plants

    International Nuclear Information System (INIS)

    Rosellini, D; Veronesi, F

    2007-01-01

    The application of genetic engineering to plants has provided genetically modified plants (GMPs, or transgenic plants) that are cultivated worldwide on increasing areas. The most widespread GMPs are herbicide-resistant soybean and canola and insect-resistant corn and cotton. New GMPs that produce vaccines, pharmaceutical or industrial proteins, and fortified food are approaching the market. The techniques employed to introduce foreign genes into plants allow a quite good degree of predictability of the results, and their genome is minimally modified. However, some aspects of GMPs have raised concern: (a) control of the insertion site of the introduced DNA sequences into the plant genome and of its mutagenic effect; (b) presence of selectable marker genes conferring resistance to an antibiotic or an herbicide, linked to the useful gene; (c) insertion of undesired bacterial plasmid sequences; and (d) gene flow from transgenic plants to non-transgenic crops or wild plants. In response to public concerns, genetic engineering techniques are continuously being improved. Techniques to direct foreign gene integration into chosen genomic sites, to avoid the use of selectable genes or to remove them from the cultivated plants, to reduce the transfer of undesired bacterial sequences, and make use of alternative, safer selectable genes, are all fields of active research. In our laboratory, some of these new techniques are applied to alfalfa, an important forage plant. These emerging methods for plant genetic engineering are briefly reviewed in this work

  2. Genetic Resources of Watermelon

    Science.gov (United States)

    As a result of many years of domestication and selection for desirable fruit quality, watermelon cultivars (Citrullus lanatus) share a narrow genetic base. Africa is the center of origin and diversity of watermelon and is considered to be the central continent for collecting and conserving useful ge...

  3. Genetic Dominance & Cellular Processes

    Science.gov (United States)

    Seager, Robert D.

    2014-01-01

    In learning genetics, many students misunderstand and misinterpret what "dominance" means. Understanding is easier if students realize that dominance is not a mechanism, but rather a consequence of underlying cellular processes. For example, metabolic pathways are often little affected by changes in enzyme concentration. This means that…

  4. Genetics Home Reference: retinoblastoma

    Science.gov (United States)

    ... Some studies suggest that additional genetic changes can influence the development of retinoblastoma ; these changes may help explain variations ... usually occurs in childhood, typically leading to the development of ... and there is no family history of the disease. Affected individuals are born ...

  5. Genetic susceptibility of periodontitis

    NARCIS (Netherlands)

    Laine, M.L.; Crielaard, W.; Loos, B.G.

    2012-01-01

    In this systematic review, we explore and summarize the peer-reviewed literature on putative genetic risk factors for susceptibility to aggressive and chronic periodontitis. A comprehensive literature search on the PubMed database was performed using the keywords ‘periodontitis’ or ‘periodontal

  6. Pitfalls in genetic testing

    DEFF Research Database (Denmark)

    Djémié, Tania; Weckhuysen, Sarah; von Spiczak, Sarah

    2016-01-01

    BACKGROUND: Sanger sequencing, still the standard technique for genetic testing in most diagnostic laboratories and until recently widely used in research, is gradually being complemented by next-generation sequencing (NGS). No single mutation detection technique is however perfect in identifying...

  7. Distributed genetic process mining

    NARCIS (Netherlands)

    Bratosin, C.C.; Sidorova, N.; Aalst, van der W.M.P.

    2010-01-01

    Process mining aims at discovering process models from data logs in order to offer insight into the real use of information systems. Most of the existing process mining algorithms fail to discover complex constructs or have problems dealing with noise and infrequent behavior. The genetic process

  8. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    pp 223-226 Commentary on J. Genet. Classic. Towards a genetic architecture of cryptic genetic variation and genetic assimilation: the contribution of K. G. Bateman · Ian Dworkin · More Details Fulltext PDF. pp 227-257 J. Genet. Classic. The Genetic Assimilation of Four Venation Phenocopies (Published on 1959 J. Genet.

  9. [The role of the genetics history in genetics teaching].

    Science.gov (United States)

    Li, Ming-Hui

    2006-08-01

    The research of the scientific history and development status reflect the science and technology level of a nation. The genetic history is one of the branches of the life science and the 21st century is life science century. The genetics history in the teaching of genetics not only can help students get familiar with the birth and development of genetics, but also enhance their thinking ability and scientific qualities. The roles and approaches of teaching are discussed in this paper.

  10. The genetics of diabetes

    Directory of Open Access Journals (Sweden)

    Barjaktarović Nada

    2007-01-01

    Full Text Available Pathogenesis of diabetes is still a mystery for medicine, the real challenge currently being the identification of genetic factors and specific mutations that cause the disease. Heterogeneity of diabetes hampers research, only a few loci inside the human genome being correlated with predisposition for disease till now. Insulin-dependent diabetes - IDDM (T1DM develops through autoimmune destruction of pancreatic beta cells. HLA complex on the short arm of chromosome 6 (6p21, where very important genes responsible for immunological condition of the person are located, plays a very important role in genetic predisposition for T1DM. Beside this region, there are also other loci in the human genome (on chromosomes 1, 2 and 11 where a correlation with T1DM has been shown. Correlation between HLA systems and T1DM was first described for class I alleles, but recently attention has been drawn to class II loci which seem to be the cause of primary predisposition for T1DM. In the case of non-insulin-dependent diabetes - NIDDM (T2DM, the situation proved to be even more complex. Only a few genetic loci on chromosomes 11, 13 and 20 and MODY variant on chromosomes 7 and 12 have been identified by now. There are two theories about genetic basis of T2DM: the first stipulates that the genetic predisposition is determined through numerous loci, each individually responsible for a small part of predisposition; the second claims that there are a limited number of "major" genes probably functioning on a polygenic basis. Further research in this area is definitely needed to enable an accurate calculation of the risks of the disease and possible consequences during a lifetime of a person.

  11. Genetic conservation and paddlefish propagation

    Science.gov (United States)

    Sloss, Brian L.; Klumb, Robert A.; Heist, Edward J.

    2009-01-01

    The conservation of genetic diversity of our natural resources is overwhelmingly one of the central foci of 21st century management practices. Three recommendations related to the conservation of paddlefish Polyodon spathula genetic diversity are to (1) identify genetic diversity at both nuclear and mitochondrial DNA loci using a suggested list of 20 sampling locations, (2) use genetic diversity estimates to develop genetic management units, and (3) identify broodstock sources to minimize effects of supplemental stocking on the genetic integrity of native paddlefish populations. We review previous genetic work on paddlefish and described key principles and concepts associated with maintaining genetic diversity within and among paddlefish populations and also present a genetic case study of current paddlefish propagation at the U.S. Fish and Wildlife Service Gavins Point National Fish Hatchery. This study confirmed that three potential sources of broodfish were genetically indistinguishable at the loci examined, allowing the management agencies cooperating on this program flexibility in sampling gametes. This study also showed significant bias in the hatchery occurred in terms of male reproductive contribution, which resulted in a shift in the genetic diversity of progeny compared to the broodfish. This shift was shown to result from differential male contributions, partially attributed to the mode of egg fertilization. Genetic insights enable implementation of a paddlefish propagation program within an adaptive management strategy that conserves inherent genetic diversity while achieving demographic goals.

  12. Genetic Engineering and the Amelioration of Genetic Defect

    Science.gov (United States)

    Lederberg, Joshua

    1970-01-01

    Discusses the claims for a brave new world of genetic manipulation" and concludes that if we could agree upon applying genetic (or any other effective) remedies to global problems we probably would need no rescourse to them. Suggests that effective methods of preventing genetic disease are prevention of mutations and detection and…

  13. NCI Dictionary of Genetics Terms

    Science.gov (United States)

    A dictionary of more than 150 genetics-related terms written for healthcare professionals. This resource was developed to support the comprehensive, evidence-based, peer-reviewed PDQ cancer genetics information summaries.

  14. Genetics Home Reference: Kleefstra syndrome

    Science.gov (United States)

    ... 5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are genetic ... G, Tzioumi D, Sillence DO, Mowat D. Three patients with terminal deletions within the subtelomeric region of chromosome 9q. ...

  15. Genetics Home Reference: diastrophic dysplasia

    Science.gov (United States)

    ... my area? Other Names for This Condition Diastrophic dwarfism DTD Related Information How are genetic conditions and ... 2 links) Health Topic: Bone Diseases Health Topic: Dwarfism Genetic and Rare Diseases Information Center (1 link) ...

  16. Clinical Cancer Genetics and Prevention

    Science.gov (United States)

    Olufunmilayo F. Olopade MD, FACP, Professor of Medicine and Human Genetics and Director of the Cancer Risk Clinic Department of Medicine, BSD Section of Hematology/Oncology University of Chicago, presented "Clinical Cancer Genetics and Prevention".

  17. Genetics Home Reference: lactose intolerance

    Science.gov (United States)

    ... Thomas MG, Swallow DM. Lactose digestion and the evolutionary genetics of lactase persistence. Hum Genet. 2009 Jan; ... genome editing and CRISPR-Cas9? What is precision medicine? What is newborn screening? New Pages Alopecia areata ...

  18. The Genetics of Pork Quality

    NARCIS (Netherlands)

    Wijk, van H.J.

    2006-01-01

    This thesis describes the genetics of carcass composition and pork quality traits. A large population of commercial finishers was extensively phenotyped for growth, carcass composition and meat quality traits. Genetic parameters were estimated based on those measurements. The population was

  19. [Public health, genetics and ethics].

    Science.gov (United States)

    Kottow, Miguel H

    2002-10-01

    Genetics research has shown enormous developments in recent decades, although as yet with only limited clinical application. Bioethical analysis has been unable to deal with the vast problems of genetics because emphasis has been put on the principlism applied to both clinical and research bioethics. Genetics nevertheless poses its most complex moral dilemmas at the public level, where a social brand of ethics ought to supersede the essentially interpersonal perspective of principlism. A more social understanding of ethics in genetics is required to unravel issues such as research and clinical explorations, ownership and patents, genetic manipulation, and allocation of resources. All these issues require reflection based on the requirements of citizenry, consideration of common assets, and definition of public policies in regulating genetic endeavors and protecting the society as a whole Bioethics has privileged the approach to individual ethical issues derived from genetic intervention, thereby neglecting the more salient aspects of genetics and social ethics.

  20. Selected Readings in Genetic Engineering

    Science.gov (United States)

    Mertens, Thomas R.; Robinson, Sandra K.

    1973-01-01

    Describes different sources of readings for understanding issues and concepts of genetic engineering. Broad categories of reading materials are: concerns about genetic engineering; its background; procedures; and social, ethical and legal issues. References are listed. (PS)

  1. Genetics Home Reference: CLPB deficiency

    Science.gov (United States)

    ... of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria. J Med Genet. 2015 ... genetic testing? What is precision medicine? What is newborn screening? New Pages LMNA-related congenital muscular dystrophy ...

  2. Genetics Home Reference: PURA syndrome

    Science.gov (United States)

    ... TJ, Vreeburg M, Rouhl RPW, Stevens SJC, Stegmann APA, Schieving J, Pfundt R, van Dijk K, Smeets ... article on PubMed Central More from Genetics Home Reference Bulletins Genetics Home Reference Celebrates Its 15th Anniversary ...

  3. Genetics Home Reference: Kniest dysplasia

    Science.gov (United States)

    ... may include a rounded upper back that also curves to the side ( kyphoscoliosis ), severely flattened bones of ... Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  4. Genetics Home Reference: Carpenter syndrome

    Science.gov (United States)

    ... deformed hips, a rounded upper back that also curves to the side ( kyphoscoliosis ), and knees that are ... Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  5. Genetics Home Reference: Czech dysplasia

    Science.gov (United States)

    ... such as a rounded upper back that also curves to the side ( kyphoscoliosis ). Some people with Czech ... Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  6. Genetics Home Reference: Winchester syndrome

    Science.gov (United States)

    ... bones ( osteoporosis ) throughout the skeleton. These abnormalities make bones brittle and more prone to fracture. The bone abnormalities ... information about a genetic condition can statistics provide? Why are some genetic conditions more common in particular ...

  7. [Genetic information and future medicine].

    Science.gov (United States)

    Sakurai, Akihiro

    2012-11-01

    Rapid technological advances in genetic analysis have revealed the genetic background of various diseases. Elucidation of the genes responsible for a disease enables better clinical management of the disease and helps to develop targeted drugs. Also, early diagnosis and management of at-risk family members can be made by identification of a genetic disease in the proband. On the other hand, genetic issues often cause psychological distress to the family. To perform genetic testing appropriately and to protect patients and family members from any harm, guidelines for genetic testing were released from the alliance of Japanese genetics-related academic societies in 2003. As genetic testing is becoming incorporated into clinical practice more broadly, the guideline was revised and released by the Japanese Society of Medical Sciences in 2011. All medical professionals in Japan are expected to follow this guideline.

  8. Foundations of genetic algorithms 1991

    CERN Document Server

    1991-01-01

    Foundations of Genetic Algorithms 1991 (FOGA 1) discusses the theoretical foundations of genetic algorithms (GA) and classifier systems.This book compiles research papers on selection and convergence, coding and representation, problem hardness, deception, classifier system design, variation and recombination, parallelization, and population divergence. Other topics include the non-uniform Walsh-schema transform; spurious correlations and premature convergence in genetic algorithms; and variable default hierarchy separation in a classifier system. The grammar-based genetic algorithm; condition

  9. Genetics and epigenetics of obesity

    OpenAIRE

    Herrera, Blanca M.; Keildson, Sarah; Lindgren, Cecilia M.

    2011-01-01

    Obesity results from interactions between environmental and genetic factors. Despite a relatively high heritability of common, non-syndromic obesity (40?70%), the search for genetic variants contributing to susceptibility has been a challenging task. Genome wide association (GWA) studies have dramatically changed the pace of detection of common genetic susceptibility variants. To date, more than 40 genetic variants have been associated with obesity and fat distribution. However, since these v...

  10. Genetics Home Reference: ulcerative colitis

    Science.gov (United States)

    ... are some genetic conditions more common in particular ethnic groups? Genetic Changes A variety of genetic and environmental factors are likely involved in the development of ulcerative colitis . Recent studies have identified variations in dozens of genes that may be linked ...

  11. Genetic variation in California oaks

    Science.gov (United States)

    Constance I. Millar; Diane L. Delany; Lawrence A. Riggs

    1990-01-01

    In forestry the importance of genetic variation for successful reproduction, survival and growth has been widely documented for commercial conifers; until recently, little genetic work has been done on the California oaks. Even before the nature of genetic variation was scientifically investigated, its importance was suspected in operational forestry. Many failures of...

  12. Genetics in Relation to Biology.

    Science.gov (United States)

    Stewart, J. Bird

    1987-01-01

    Claims that most instruction dealing with genetics is limited to sex education and personal hygiene. Suggests that the biology curriculum should begin to deal with other issues related to genetics, including genetic normality, prenatal diagnoses, race, and intelligence. Predicts these topics will begin to appear in British examination programs.…

  13. Moral Fantasy in Genetic Engineering.

    Science.gov (United States)

    Boone, C. Keith

    1984-01-01

    Discusses the main ethical issues generated by the new genetics and suggests ways to think about them. Concerns include "playing God," violation of the natural order of the universe, and abuse of genetic technology. Critical distinctions for making difficult decisions about genetic engineering issues are noted. (DH)

  14. Genetic Counseling in Mental Retardation.

    Science.gov (United States)

    Bowen, Peter

    The task of the genetic counselor who identifies genetic causes of mental retardation and assists families to understand risk of recurrence is described. Considered are chromosomal genetic disorders such as Down's syndrome, inherited disorders such as Tay-Sachs disease, identification by testing the amniotic fluid cells (amniocentresis) in time…

  15. Genetical Genomics for Evolutionary Studies

    NARCIS (Netherlands)

    Prins, J.C.P.; Smant, G.; Jansen, R.C.

    2012-01-01

    Genetical genomics combines acquired high-throughput genomic data with genetic analysis. In this chapter, we discuss the application of genetical genomics for evolutionary studies, where new high-throughput molecular technologies are combined with mapping quantitative trait loci (QTL) on the genome

  16. Genetic effects of ionising radiation

    International Nuclear Information System (INIS)

    Saunders, P.

    1981-01-01

    The mutagenic effects of ionising radiation on germ cells with resulting genetic abnormalities in subsequent generations, are considered. Having examined a simple model to explain the interaction of ionising radiation with genetic material and discussed its limitations, the methods whereby mutations are transmitted are discussed. Methods of estimating genetic risks and the results of such studies are examined. (U.K.)

  17. Genetic transformation of forest trees

    African Journals Online (AJOL)

    Admin

    In this review, the recent progress on genetic transformation of forest trees were discussed. Its described also, different applications of genetic engineering for improving forest trees or understanding the mechanisms governing genes expression in woody plants. Key words: Genetic transformation, transgenic forest trees, ...

  18. Adults' perceptions of genetic counseling and genetic testing.

    Science.gov (United States)

    Houfek, Julia Fisco; Soltis-Vaughan, Brigette S; Atwood, Jan R; Reiser, Gwendolyn M; Schaefer, G Bradley

    2015-02-01

    This study described the perceptions of genetic counseling and testing of adults (N = 116) attending a genetic education program. Understanding perceptions of genetic counseling, including the importance of counseling topics, will contribute to patient-focused care as clinical genetic applications for common, complex disorders evolve. Participants completed a survey addressing: the importance of genetic counseling topics, benefits and negative effects of genetic testing, and sharing test results. Topics addressing practical information about genetic conditions were rated most important; topics involving conceptual genetic/genomic principles were rated least important. The most frequently identified benefit and negative effect of testing were prevention/early detection/treatment and psychological distress. Participants perceived that they were more likely to share test results with first-degree than other relatives. Findings suggest providing patients with practical information about genetic testing and genetic contributions to disease, while also determining whether their self-care abilities would be enhanced by teaching genetic/genomic principles. Copyright © 2014 Elsevier Inc. All rights reserved.

  19. Genetic secrets: Protecting privacy and confidentiality in the genetic era

    Energy Technology Data Exchange (ETDEWEB)

    Rothstein, M.A. [ed.

    1998-07-01

    Few developments are likely to affect human beings more profoundly in the long run than the discoveries resulting from advances in modern genetics. Although the developments in genetic technology promise to provide many additional benefits, their application to genetic screening poses ethical, social, and legal questions, many of which are rooted in issues of privacy and confidentiality. The ethical, practical, and legal ramifications of these and related questions are explored in depth. The broad range of topics includes: the privacy and confidentiality of genetic information; the challenges to privacy and confidentiality that may be projected to result from the emerging genetic technologies; the role of informed consent in protecting the confidentiality of genetic information in the clinical setting; the potential uses of genetic information by third parties; the implications of changes in the health care delivery system for privacy and confidentiality; relevant national and international developments in public policies, professional standards, and laws; recommendations; and the identification of research needs.

  20. Eugenics and genetic testing.

    Science.gov (United States)

    Holtzman, N A

    1998-01-01

    Pressures to lower health-care costs remain an important stimulus to eugenic approaches. Prenatal diagnosis followed by abortion of affected fetuses has replaced sterilization as the major eugenic technique. Voluntary acceptance has replaced coercion, but subtle pressures undermine personal autonomy. The failure of the old eugenics to accurately predict who will have affected offspring virtually disappears when prenatal diagnosis is used to predict Mendelian disorders. However, when prenatal diagnosis is used to detect inherited susceptibilities to adult-onset, common, complex disorders, considerable uncertainty is inherent in the prediction. Intolerance and the resurgence of genetic determinism are current pressures for a eugenic approach. The increasing use of carrier screening (to identify those at risk of having affected offspring) and of prenatal diagnosis could itself generate intolerance for those who refuse the procedures. Genetic determinism deflects society from social action that would reduce the burden of disease far more than even the maximum use of eugenics.

  1. Advances in human genetics

    Energy Technology Data Exchange (ETDEWEB)

    Harris, H.; Hirschhorn, K. (eds.)

    1993-01-01

    This book has five chapters covering peroxisomal diseases, X-linked immunodeficiencies, genetic mutations affecting human lipoproteins and their receptors and enzymes, genetic aspects of cancer, and Gaucher disease. The chapter on peroxisomes covers their discovery, structure, functions, disorders, etc. The chapter on X-linked immunodeficiencies discusses such diseases as agammaglobulinemia, severe combined immunodeficiency, Wiskott-Aldrich syndrome, animal models, linkage analysis, etc. Apolipoprotein formation, synthesis, gene regulation, proteins, etc. are the main focus of chapter 3. The chapter on cancer covers such topics as oncogene mapping and the molecular characterization of some recessive oncogenes. Gaucher disease is covered from its diagnosis, classification, and prevention, to its organ system involvement and molecular biology.

  2. Genetics of Alcoholism.

    Science.gov (United States)

    Zhu, Ena C; Soundy, Timothy J; Hu, Yueshan

    2017-05-01

    Consuming excessive amounts of alcohol has the potential to modify an individual's brain and lead to alcohol dependence. Alcohol use leads to 88,000 deaths every year in the U.S. alone and can lead to other health issues including cancers, such as colorectal cancer, and mental health problems. While drinking behavior varies due to environmental factors, genetic factors also contribute to the risk of alcoholism. Certain genes affecting alcohol metabolism and neurotransmitters have been found to contribute to or inhibit the risk. Geneenvironment interactions may also play a role in the susceptibility of alcoholism. With a better understanding of the different components that can contribute to alcoholism, more personalized treatment could cater to the individual. This review discusses the major genetic factors and some small variants in other genes that contribute to alcoholism, as well as considers the gene-environmental interactions. Copyright© South Dakota State Medical Association.

  3. MEDICAL GENETICS AND ETHICS

    Directory of Open Access Journals (Sweden)

    Vladimir TRAJKOVSKI

    1999-05-01

    Full Text Available Fast development of medical genetics and it’s subdisciplines is noticed in last thirty years. Modern diagnostic methods made possible to establish human genome and its impairment. In human genetics, ethic is main principle in working. Ethic is science about biggest goodness for human or society, and its aim pro­tecting human health.Today's conditions for leaving and science development open a wide way for ethical approaches, but also for non-ethical manipulations with human even before his conception. We must keep to attitude that without law, with our behavior will must conduct our conscience. It is best to have neutral eugenetic attitude, which allows free ethical choice of each individual, in any case, for the well being of man.

  4. Genetic engineering in biotechnology

    Energy Technology Data Exchange (ETDEWEB)

    Bedate, C.A.; Morales, J.C.; Lopez, E.H.

    1981-09-01

    The objective of this book is to encourage the use of genetic engineering for economic development. The report covers: (1) Precedents of genetic engineering; (2) a brief description of the technology, including the transfer of DNA in bacteria (vectors, E. coli and B. subtilis hosts, stages, and technical problems), practical examples of techniques used and their products (interferon; growth hormone; insulin; treatment of blood cells, Talasemia, and Lesch-Nyhan syndrome; and more nutritious soya), transfer to higher organisms, and cellular fusion; (3) biological risks and precautions; (4) possible applications (production of hydrogen, hydrocarbons, alcohol, chemicals, enzymes, peptides, viral antigens, monoclonal antibodies, genes, proteins, and insecticides; metal extraction; nitrogen fixation; biodegradation; and new varieties of plants and animals; and (5) international activities.

  5. Genetic discrimination: international perspectives.

    Science.gov (United States)

    Otlowski, M; Taylor, S; Bombard, Y

    2012-01-01

    Genetic discrimination (GD) is a complex, multifaceted ethical, psychosocial, and legal phenomenon. It is defined as the differential treatment of asymptomatic individuals or their relatives on the basis of their real or assumed genetic characteristics. This article presents an overview of GD within the contemporary international context. It describes the concept of GD and its contextual features, reviews research evidence regarding people's experiences of GD and the impact of GD within a range of domains, and provides an overview of legal and policy responses to GD that have emerged globally. We argue that GD is a significant and internationally established phenomenon that requires multilevel responses to ensure social justice and equitable outcomes for all citizens. Future research should monitor GD and its impacts within the community as well as institutions and should evaluate the effectiveness of legislative, policy, community education, and systemic responses.

  6. Genetically engineered yeast

    DEFF Research Database (Denmark)

    2014-01-01

    A genetically modified Saccharomyces cerevisiae comprising an active fermentation pathway producing 3-HP expresses an exogenous gene expressing the aminotransferase YhxA from Bacillus cereus AH1272 catalysing a transamination reaction between beta-alanine and pyruvate to produce malonate semialde......A genetically modified Saccharomyces cerevisiae comprising an active fermentation pathway producing 3-HP expresses an exogenous gene expressing the aminotransferase YhxA from Bacillus cereus AH1272 catalysing a transamination reaction between beta-alanine and pyruvate to produce malonate...... semialdehyde. The yeast may also express a 3-hydroxyisobutyrate dehydrogenase (HIBADH) and a 3-hydroxypropanoate dehydrogenase (3-HPDH) and aspartate 1-decarboxylase. Additionally the yeast may express pyruvate carboxylase and aspartate aminotransferase....

  7. Genetics of asthma

    DEFF Research Database (Denmark)

    Thomsen, Simon F

    2015-01-01

    Asthma runs in families, and children of asthmatic parents are at increased risk of asthma. Prediction of disease risk is pivotal for the clinician when counselling atopic families. However, this is not always an easy task bearing in mind the vast and ever-increasing knowledge about asthma genetics....... The advent of new genotyping technologies has made it possible to sequence in great detail the human genome for asthma-associated variants, and accordingly, recent decades have witnessed an explosion in the number of rare and common variants associated with disease risk. This review presents an overview...... of methods and advances in asthma genetics in an attempt to help the clinician keep track of the most important knowledge in the field....

  8. Where genetic algorithms excel.

    Science.gov (United States)

    Baum, E B; Boneh, D; Garrett, C

    2001-01-01

    We analyze the performance of a genetic algorithm (GA) we call Culling, and a variety of other algorithms, on a problem we refer to as the Additive Search Problem (ASP). We show that the problem of learning the Ising perceptron is reducible to a noisy version of ASP. Noisy ASP is the first problem we are aware of where a genetic-type algorithm bests all known competitors. We generalize ASP to k-ASP to study whether GAs will achieve "implicit parallelism" in a problem with many more schemata. GAs fail to achieve this implicit parallelism, but we describe an algorithm we call Explicitly Parallel Search that succeeds. We also compute the optimal culling point for selective breeding, which turns out to be independent of the fitness function or the population distribution. We also analyze a mean field theoretic algorithm performing similarly to Culling on many problems. These results provide insight into when and how GAs can beat competing methods.

  9. Genetics of Diabetes Insipidus.

    Science.gov (United States)

    Schernthaner-Reiter, Marie Helene; Stratakis, Constantine A; Luger, Anton

    2017-06-01

    Diabetes insipidus is a disease characterized by polyuria and polydipsia due to inadequate release of arginine vasopressin from the posterior pituitary gland (neurohypophyseal diabetes insipidus) or due to arginine vasopressin insensitivity by the renal distal tubule, leading to a deficiency in tubular water reabsorption (nephrogenic diabetes insipidus). This article reviews the genetics of diabetes insipidus in the context of its diagnosis, clinical presentation, and therapy. Copyright © 2017 Elsevier Inc. All rights reserved.

  10. [Genetics of ischemic stroke].

    Science.gov (United States)

    Gschwendtner, A; Dichgans, M

    2013-02-01

    Stroke is one of the most widespread causes of mortality und disability worldwide. Around 80 % of strokes are ischemic and different forms of intracranial bleeding account for the remaining cases. Monogenic stroke disorders are rare but the diagnosis may lead to specific therapeutic consequences for the affected patients who are predominantly young. In common sporadic stroke, genetic factors play a role in the form of susceptibility genes. Their discovery may give rise to new therapeutic options in the future.

  11. Genetic monitoring of agrocoenosis

    International Nuclear Information System (INIS)

    Lukin, V.D.

    2005-01-01

    Mutants with high frequency of revertants appearance can be used as biological indicator of genetic monitoring of agrocoenosis. It differs from the initial form in dwarf-size of the shrub, the changed plate of leaf and sterility. The low limit of the mutant sensitiveness on the test of visible reverse mutations to the doses of gamma-irradiation is 0,2 Gy and to the rate of soil contamination by lead is 50 mg per 1 kg of soil. (authors)

  12. Mammalian genetics and biostatistics

    International Nuclear Information System (INIS)

    Grahn, D.; Carnes, B.A.; Farrington, B.H.; Lee, C.H.

    1985-01-01

    This program seeks to assess genetic hazards of single, weekly, and continuous doses of 60 Co gamma rays and single and weekly doses of fission neutrons to provide a basis for estimating relative biological effectiveness (RBE) of fission neutrons, to develop detailed dose-response data at low doses as a basis for studying relationships between linear energy transfer (LET) and the sensitivity of various cell stages, and to develop improved statistical approaches to analytical issues in chemical and radiation toxicology. 3 refs

  13. Experiencing the genetic body: parents' encounters with pediatric clinical genetics.

    Science.gov (United States)

    Raspberry, Kelly; Skinner, Debra

    2007-01-01

    Because of advancements in genetic research and technologies, the clinical practice of genetics is becoming a prevalent component of biomedicine. As the genetic basis for more and more diseases are found, it is possible that ways of experiencing health, illness, identity, kin relations, and the body are becoming geneticized, or understood within a genetic model of disease. Yet, other models and relations that go beyond genetic explanations also shape interpretations of health and disease. This article explores how one group of individuals for whom genetic disorder is highly relevant formulates their views of the body in light of genetic knowledge. Using data from an ethnographic study of 106 parents or potential parents of children with known or suspected genetic disorders who were referred to a pediatric genetic counseling and evaluation clinic in the southeastern United States, we find that these parents do, to some degree, perceive of their children's disorders in terms of a genetic body that encompasses two principal qualities: a sense of predetermined health and illness and an awareness of a profound historicity that reaches into the past and extends into the present and future. They experience this genetic body as both fixed and historical, but they also express ideas of a genetic body made less deterministic by their own efforts and future possibilities. This account of parents' experiences with genetics and clinical practice contributes to a growing body of work on the ways in which genetic information and technologies are transforming popular and medical notions of the body, and with it, health, illness, kinship relations, and personal and social identities.

  14. Algebras in genetics

    CERN Document Server

    Wörz-Busekros, Angelika

    1980-01-01

    The purpose of these notes is to give a rather complete presentation of the mathematical theory of algebras in genetics and to discuss in detail many applications to concrete genetic situations. Historically, the subject has its origin in several papers of Etherington in 1939- 1941. Fundamental contributions have been given by Schafer, Gonshor, Holgate, Reiers¢l, Heuch, and Abraham. At the moment there exist about forty papers in this field, one survey article by Monique Bertrand from 1966 based on four papers of Etherington, a paper by Schafer and Gonshor's first paper. Furthermore Ballonoff in the third section of his book "Genetics and Social Structure" has included four papers by Etherington and Reiers¢l's paper. Apparently a complete review, in par­ ticular one comprising more recent results was lacking, and it was difficult for students to enter this field of research. I started to write these notes in spring 1978. A first german version was finished at the end of that year. Further revision and tran...

  15. Genetic Alterations in Glioma

    International Nuclear Information System (INIS)

    Bralten, Linda B. C.; French, Pim J.

    2011-01-01

    Gliomas are the most common type of primary brain tumor and have a dismal prognosis. Understanding the genetic alterations that drive glioma formation and progression may help improve patient prognosis by identification of novel treatment targets. Recently, two major studies have performed in-depth mutation analysis of glioblastomas (the most common and aggressive subtype of glioma). This systematic approach revealed three major pathways that are affected in glioblastomas: The receptor tyrosine kinase signaling pathway, the TP53 pathway and the pRB pathway. Apart from frequent mutations in the IDH1/2 gene, much less is known about the causal genetic changes of grade II and III (anaplastic) gliomas. Exceptions include TP53 mutations and fusion genes involving the BRAF gene in astrocytic and pilocytic glioma subtypes, respectively. In this review, we provide an update on all common events involved in the initiation and/or progression across the different subtypes of glioma and provide future directions for research into the genetic changes

  16. Genetics of osteoporosis

    Energy Technology Data Exchange (ETDEWEB)

    Urano, Tomohiko [Department of Geriatric Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo 113-8655 (Japan); Inoue, Satoshi, E-mail: INOUE-GER@h.u-tokyo.ac.jp [Department of Geriatric Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo 113-8655 (Japan); Department of Anti-Aging Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo 113-8655 (Japan); Division of Gene Regulation and Signal Transduction, Research Center for Genomic Medicine, Saitama Medical University, Saitama (Japan)

    2014-09-19

    Highlights: • Single-nucleotide polymorphisms (SNPs) associated with osteoporosis were identified. • SNPs mapped close to or within VDR and ESR1 are associated with bone mineral density. • WNT signaling pathway plays a pivotal role in regulating bone mineral density. • Genetic studies will be useful for identification of new therapeutic targets. - Abstract: Osteoporosis is a skeletal disease characterized by low bone mineral density (BMD) and microarchitectural deterioration of bone tissue, which increases susceptibility to fractures. BMD is a complex quantitative trait with normal distribution and seems to be genetically controlled (in 50–90% of the cases), according to studies on twins and families. Over the last 20 years, candidate gene approach and genome-wide association studies (GWAS) have identified single-nucleotide polymorphisms (SNPs) that are associated with low BMD, osteoporosis, and osteoporotic fractures. These SNPs have been mapped close to or within genes including those encoding nuclear receptors and WNT-β-catenin signaling proteins. Understanding the genetics of osteoporosis will help identify novel candidates for diagnostic and therapeutic targets.

  17. Genetically Modified Organisms

    Directory of Open Access Journals (Sweden)

    Claro Llaguno

    2001-06-01

    Full Text Available Recent reports have brought to public attention concerns about Bt corn and genetically modified organisms (GMO in general. The timing, it seems, is most appropriate considering two related developments early this year: the final approval of the Cartagena Protocol on Biosafety in Montreal on January 29, 2001, and the OECD Edinburgh Conference on GM food safety last February 28- March 1, 2001. The protocol makes clear that GMOs include all living modified organisms (LMO defined as "any living organism that possesses a novel combination of genetic material obtained through the use of modern biotechnology". This includes seeds, live fish, and other organisms intentionally obtained for release to the environment. It would seem that the common understanding about GMOs as referring to farm-to-table products is perforce expanded to embrace genetically modified farm animals and aquatic resources. Being a trade agreement, the Montreal accord primarily deals with the safety issues related to the transboundary movement of LMOs around the globe. The OECD conference on the other hand, called for an international body "to address all sides of the GM debate" in response to the public outcry, particularly in Western Europe, regarding the risks the new products pose to human health and the environment. Some points of contention, which remain unresolved, include issues such as whether countries should be allowed to develop their own GM food based on their needs, and whether a global moratorium on GMOs and mandatory labeling should be enforced worldwide.

  18. Genetics of Vitiligo

    Science.gov (United States)

    Spritz, Richard; Andersen, Genevieve

    2016-01-01

    Synopsis Vitiligo is “complex disorder” (also termed polygenic and multifactorial), reflecting simultaneous contributions of multiple genetic risk factors and environmental triggers. Large-scale genome-wide association studies, principally in European-derived whites and in Chinese, have discovered approximately 50 different genetic loci that contribute to vitiligo risk, some of which also contribute to other autoimmune diseases that are epidemiologically associated with vitiligo. At many of these vitiligo susceptibility loci the corresponding relevant genes have now been identified, and for some of these genes the specific DNA sequence variants that contribute to vitiligo risk are also now known. A large fraction of these genes encode proteins involved in immune regulation, a number of others play roles in cellular apoptosis, and still others are involved in regulating functions of melanocytes. For this last group, there appears to be an opposite relationship between susceptibility to vitiligo and susceptibility to melanoma, suggesting that vitiligo may engage a normal mechanism of immune surveillance for melanoma. While many of the specific biologic mechanisms through which these genetic factors operate to cause vitiligo remain to be elucidated, it is now clear that vitiligo is an autoimmune disease involving a complex relationship between programming and function of the immune system, aspects of the melanocyte autoimmune target, and dysregulation of the immune response. PMID:28317533

  19. The synthesis paradigm in genetics.

    Science.gov (United States)

    Rice, William R

    2014-02-01

    Experimental genetics with model organisms and mathematically explicit genetic theory are generally considered to be the major paradigms by which progress in genetics is achieved. Here I argue that this view is incomplete and that pivotal advances in genetics--and other fields of biology--are also made by synthesizing disparate threads of extant information rather than generating new information from experiments or formal theory. Because of the explosive expansion of information in numerous "-omics" data banks, and the fragmentation of genetics into numerous subdisciplines, the importance of the synthesis paradigm will likely expand with time.

  20. Ethics in reproductive genetics.

    Science.gov (United States)

    Fletcher, J C; Evans, M I

    1992-12-01

    Ethics in reproductive genetics comprise descriptive ethics and normative ethics. Ethical problems before prenatal diagnosis involve genetic counseling and informed consent for the choice patients must make. Prenatal diagnosis using amniocentesis is controversial. An international survey of geneticists showed that 25% would do prenatal diagnosis for sex selection, and 17% would refer the couple elsewhere. Hungary (60%), India (37%), the US (34%), Canada (30%), Greece (29%), and Sweden (28%) would do prenatal diagnosis. The statistical incidence of positive findings after prenatal diagnosis does not exceed 4% of all cases when most couples choose abortion. Respect for parental choice and for nondirective counseling was supported in responses to 3 cases in the international survey that also had disclosure dilemmas included with abortion choices. 84% of respondents would be nondirective for XYY and 88% for XO. In India, Hungary, Turkey, and Norway, 46%, 40%, 40%, and 33%, respectively, would advise aborting an XO (Turner) fetus. A survey of 737 genetics and obstetricians and ethicists and clergy showed acceptability of abortion in singleton pregnancies and in twins associated strongly with the trimester of pregnancy, indication for selective termination, and fetal number. Prior group review of risks and benefits of experimental fetal therapy, case selection for experimental fetal therapy, the optimal informed-consent process for fetal therapy, twin pregnancies, refusal of proven fetal therapy, the lack of federal support for research in fetal diagnosis (preimplantation embryo diagnosis) and therapy, and sources of a moral obligation are also addressed. The Belmont Report on the ethics of biomedical research in the US proposed ethical principles to guide research with human subjects including the fetus: respect for parsons, beneficence, and justice.

  1. Inevitability of Genetic Parasites

    Science.gov (United States)

    Iranzo, Jaime; Puigbò, Pere; Lobkovsky, Alexander E.; Wolf, Yuri I.

    2016-01-01

    Abstract Almost all cellular life forms are hosts to diverse genetic parasites with various levels of autonomy including plasmids, transposons and viruses. Theoretical modeling of the evolution of primordial replicators indicates that parasites (cheaters) necessarily evolve in such systems and can be kept at bay primarily via compartmentalization. Given the (near) ubiquity, abundance and diversity of genetic parasites, the question becomes pertinent: are such parasites intrinsic to life? At least in prokaryotes, the persistence of parasites is linked to the rate of horizontal gene transfer (HGT). We mathematically derive the threshold value of the minimal transfer rate required for selfish element persistence, depending on the element duplication and loss rates as well as the cost to the host. Estimation of the characteristic gene duplication, loss and transfer rates for transposons, plasmids and virus-related elements in multiple groups of diverse bacteria and archaea indicates that most of these rates are compatible with the long term persistence of parasites. Notably, a small but non-zero rate of HGT is also required for the persistence of non-parasitic genes. We hypothesize that cells cannot tune their horizontal transfer rates to be below the threshold required for parasite persistence without experiencing highly detrimental side-effects. As a lower boundary to the minimum DNA transfer rate that a cell can withstand, we consider the process of genome degradation and mutational meltdown of populations through Muller’s ratchet. A numerical assessment of this hypothesis suggests that microbial populations cannot purge parasites while escaping Muller’s ratchet. Thus, genetic parasites appear to be virtually inevitable in cellular organisms. PMID:27503291

  2. Coalgebraic structure of genetic inheritance.

    Science.gov (United States)

    Tian, Jianjun; Li, Bai-Lian

    2004-09-01

    Although in the broadly defined genetic algebra, multiplication suggests a forward direction of from parents to progeny, when looking from the reverse direction, it also suggests to us a new algebraic structure-coalge- braic structure, which we call genetic coalgebras. It is not the dual coalgebraic structure and can be used in the construction of phylogenetic trees. Math- ematically, to construct phylogenetic trees means we need to solve equations x([n]) = a, or x([n]) = b. It is generally impossible to solve these equations inalgebras. However, we can solve them in coalgebras in the sense of tracing back for their ancestors. A thorough exploration of coalgebraic structure in genetics is apparently necessary. Here, we develop a theoretical framework of the coalgebraic structure of genetics. From biological viewpoint, we defined various fundamental concepts and examined their elementary properties that contain genetic significance. Mathematically, by genetic coalgebra, we mean any coalgebra that occurs in genetics. They are generally noncoassociative and without counit; and in the case of non-sex-linked inheritance, they are cocommutative. Each coalgebra with genetic realization has a baric property. We have also discussed the methods to construct new genetic coalgebras, including cocommutative duplication, the tensor product, linear combinations and the skew linear map, which allow us to describe complex genetic traits. We also put forward certain theorems that state the relationship between gametic coalgebra and gametic algebra. By Brower's theorem in topology, we prove the existence of equilibrium state for the in-evolution operator.

  3. Understanding genetics in neuroimaging.

    Science.gov (United States)

    Vasquez, Marina Lipkin; Renault, Ilana Zalcberg

    2015-02-01

    Gene expression is a process of DNA sequence reading into protein synthesis. In cases of problems in DNA repair/apoptosis mechanisms, cells accumulate genomic abnormalities and pass them through generations of cells. The accumulation of mutations causes diseases and even tumors. In addition to cancer, many other neurologic conditions have been associated with genetic mutations. Some trials are testing patients with epigenetic treatments. Epigenetic therapy must be used with caution because epigenetic processes and changes happen constantly in normal cells, giving rise to drug off-target effects. Scientists are making progress in specifically targeting abnormal cells with minimal damage to normal ones. Copyright © 2015. Published by Elsevier Inc.

  4. [Current options of preimplantion genetic screening and preimplantation genetic diagnostics].

    Science.gov (United States)

    Šimečková, V

    The aim of this work is to summarize the current knowledge about preimplantation genetic screening and diagnostics. A review article. Department of Gynecology and Obstetrics, District Hospital Šternberk, IVF Clinic, Olomouc. Preimplantation genetic testing is a complex of genetic and molecular cytogenetic examinations, which can help to detect abnormalities in embryos before transfer into the uterus of the mother. These specialized examinations are based on the latest findings in genetics and assisted reproduction. The preimplantation genetic testing is necessarily associated with a method of in vitro fertilization. It is performed on isolated blastomeres on the third day of embryo cultivation. Nowadays, it is preferred trophectoderm examination of cells from the five-day blastocysts. Generally speaking, after preimplantation genetic testing, we can select only embryos without genetic load to transfer into uterus. Preimplantation genetic testing is an important part of treatment of infertility. Complex diagnostics and treatment of infertile couples are increasingly influenced by the development and use of advanced genomic technologies. Further development and application of these modern methods require close cooperation between the field of assisted reproduction and clinical genetics.

  5. Genetics of COPD

    Directory of Open Access Journals (Sweden)

    Hidetoshi Nakamura

    2011-01-01

    Full Text Available Previous family studies suggested that genetic variation contributes to COPD susceptibility. The only gene proven to influence COPD susceptibility is SERPINA1, encoding α1-antitrypsin. Most studies on COPD candidate genes except SERPINA1, have not been consistently replicated. However, longitudinal studies of decline in lung function, meta-analyses of candidate gene studies, and family-based linkage analyses suggested that variants in EPHX1, GST, MMP12, TGFB1, and SERPINE2 were associated with susceptibility to COPD. A genome-wide association (GWA study has recently demonstrated that CHRNA3/5 in 15q25 was associated with COPD compared with control smokers. It was of interest that the CHRNA3/5 locus was associated with nicotine dependence and lung cancer as well. The associations of HHIP on 4q31 and FAM13A on 4q22 with COPD were also suggested in GWA studies. Another GWA study has shown that BICD1 in 12p11 was associated with the presence or absence of emphysema. Although every genetic study on COPD has some limitations including heterogeneity in smoking behaviors and comorbidities, it has contributed to the progress in elucidating the pathogenesis of COPD. Future studies will make us understand the mechanisms underlying the polygenic disease, leading to the development of a specific treatment for each phenotype.

  6. Biology, Genetics, and Environment

    Science.gov (United States)

    Wall, Tamara L.; Luczak, Susan E.; Hiller-Sturmhöfel, Susanne

    2016-01-01

    Gene variants encoding several of the alcohol-metabolizing enzymes, alcohol dehydrogenase (ADH) and aldehyde dehydrogenase (ALDH), are among the largest genetic associations with risk for alcohol dependence. Certain genetic variants (i.e., alleles)—particularly the ADH1B*2, ADH1B*3, ADH1C*1, and ALDH2*2 alleles—have been associated with lower rates of alcohol dependence. These alleles may lead to an accumulation of acetaldehyde during alcohol metabolism, which can result in heightened subjective and objective effects. The prevalence of these alleles differs among ethnic groups; ADH1B*2 is found frequently in northeast Asians and occasionally Caucasians, ADH1B*3 is found predominantly in people of African ancestry, ADH1C*1 varies substantially across populations, and ALDH2*2 is found almost exclusively in northeast Asians. Differences in the prevalence of these alleles may account at least in part for ethnic differences in alcohol consumption and alcohol use disorder (AUD). However, these alleles do not act in isolation to influence the risk of AUD. For example, the gene effects of ALDH2*2 and ADH1B*2 seem to interact. Moreover, other factors have been found to influence the extent to which these alleles affect a person’s alcohol involvement, including developmental stage, individual characteristics (e.g., ethnicity, antisocial behavior, and behavioral undercontrol), and environmental factors (e.g., culture, religion, family environment, and childhood adversity). PMID:27163368

  7. Carcinogenesis. Genetics and circumstances

    International Nuclear Information System (INIS)

    Hino, Okio

    2005-01-01

    Described are the author's study and aspect concerning carcinogenesis and radiation carcinogenesis, where he thinks cancer is not automatic, has a process and takes time. For radiation carcinogenic studies, he has used a model of the rat with genetically determined kidney cancer which is highly radiosensitive. That is, mutation by the so-called 2nd-hit of the causal gene (tumor suppressing gene Tsc2) is studied in the animal where the 1st-hit has been done by retrotransposon insertion, with and without exposure to radiations (X-ray, heavy particle beam and cosmic ray) for elucidating the mutation spectrum of the causal gene, the carcinogenic target, for the ultimate aim to prevent human cancer. He discusses the drama-type molecular mechanisms leading to cancer, gene abnormality and disease crisis, discontinuity in continuity in cancer formation, and importance of the timely diagnosis and appropriate therapy, and concludes the present age is becoming such one as that the nature of cancer even if genetic can be controlled by circumstances like timely and appropriate intervention. (S.I.)

  8. Genetics and plant development.

    Science.gov (United States)

    Prunet, Nathanaël; Meyerowitz, Elliot M

    2016-01-01

    There are only three grand theories in biology: the theory of the cell, the theory of the gene, and the theory of evolution. Two of these, the cell and gene theories, originated in the study of plants, with the third resulting in part from botanical considerations as well. Mendel's elucidation of the rules of inheritance was a result of his experiments on peas. The rediscovery of Mendel's work in 1900 was by the botanists de Vries, Correns, and Tschermak. It was only in subsequent years that animals were also shown to have segregation of genetic elements in the exact same manner as had been shown in plants. The story of developmental biology is different - while the development of plants has long been studied, the experimental and genetic approaches to developmental mechanism were developed via experiments on animals, and the importance of genes in development (e.g., Waddington, 1940) and their use for understanding developmental mechanisms came to botanical science much later - as late as the 1980s. Copyright © 2016 Académie des sciences. Published by Elsevier SAS. All rights reserved.

  9. Genetics of SCID

    Directory of Open Access Journals (Sweden)

    Cossu Fausto

    2010-11-01

    Full Text Available Abstract Human SCID (Severe Combined Immunodeficiency is a prenatal disorder of T lymphocyte development, that depends on the expression of numerous genes. The knowledge of the genetic basis of SCID is essential for diagnosis (e.g., clinical phenotype, lymphocyte profile and treatment (e.g., use and type of pre-hematopoietic stem cell transplant conditioning. Over the last years novel genetic defects causing SCID have been discovered, and the molecular and immunological mechanisms of SCID have been better characterized. Distinct forms of SCID show both common and peculiar (e.g., absence or presence of nonimmunological features aspects, and they are currently classified into six groups according to prevalent pathophysiological mechanisms: impaired cytokine-mediated signaling; pre-T cell receptor defects; increased lymphocyte apoptosis; defects in thymus embryogenesis; impaired calcium flux; other mechanisms. This review is the updated, extended and largely modified translation of the article "Cossu F: Le basi genetiche delle SCID", originally published in Italian language in the journal "Prospettive in Pediatria" 2009, 156:228-238.

  10. What Use Is Population Genetics?

    Science.gov (United States)

    Charlesworth, Brian

    2015-07-01

    The Genetic Society of America's Thomas Hunt Morgan Medal is awarded to an individual GSA member for lifetime achievement in the field of genetics. For over 40 years, 2015 recipient Brian Charlesworth has been a leader in both theoretical and empirical evolutionary genetics, making substantial contributions to our understanding of how evolution acts on genetic variation. Some of the areas in which Charlesworth's research has been most influential are the evolution of sex chromosomes, transposable elements, deleterious mutations, sexual reproduction, and life history. He also developed the influential theory of background selection, whereby the recurrent elimination of deleterious mutations reduces variation at linked sites, providing a general explanation for the correlation between recombination rate and genetic variation. Copyright © 2015 by the Genetics Society of America.

  11. Genetic doping and health damages.

    Science.gov (United States)

    Fallahi, Aa; Ravasi, Aa; Farhud, Dd

    2011-01-01

    Use of genetic doping or gene transfer technology will be the newest and the lethal method of doping in future and have some unpleasant consequences for sports, athletes, and outcomes of competitions. The World Anti-Doping Agency (WADA) defines genetic doping as "the non-therapeutic use of genes, genetic elements, and/or cells that have the capacity to enhance athletic performance ". The purpose of this review is to consider genetic doping, health damages and risks of new genes if delivered in athletes. This review, which is carried out by reviewing relevant publications, is primarily based on the journals available in GOOGLE, ELSEVIER, PUBMED in fields of genetic technology, and health using a combination of keywords (e.g., genetic doping, genes, exercise, performance, athletes) until July 2010. There are several genes related to sport performance and if they are used, they will have health risks and sever damages such as cancer, autoimmunization, and heart attack.

  12. Genetic manipulation of Francisella tularensis

    Directory of Open Access Journals (Sweden)

    Xhavit eZogaj

    2011-01-01

    Full Text Available Francisella tularensis is a facultative intracellular pathogen that causes the disease tularemia. F. tularensis subsp. tularensis causes the most severe disease in humans and has been classified as a select A agent and potential bioweapon. There is currently no vaccine approved for human use, making genetic manipulation of this organism critical to unraveling the genetic basis of pathogenesis and developing countermeasures against tularemia. The development of genetic techniques applicable to F. tularensis have lagged behind those routinely used for other bacteria, primarily due to lack of research and the restricted nature of the biocontainment required for studying this pathogen. However, in recent years, genetic techniques, such as transposon mutagenesis and targeted gene disruption, have been developed, that have had a dramatic impact on our understanding of the genetic basis of F. tularensis virulence. In this review, we describe some of the methods developed for genetic manipulation of F. tularensis.

  13. Genetic specificity of face recognition.

    Science.gov (United States)

    Shakeshaft, Nicholas G; Plomin, Robert

    2015-10-13

    Specific cognitive abilities in diverse domains are typically found to be highly heritable and substantially correlated with general cognitive ability (g), both phenotypically and genetically. Recent twin studies have found the ability to memorize and recognize faces to be an exception, being similarly heritable but phenotypically substantially uncorrelated both with g and with general object recognition. However, the genetic relationships between face recognition and other abilities (the extent to which they share a common genetic etiology) cannot be determined from phenotypic associations. In this, to our knowledge, first study of the genetic associations between face recognition and other domains, 2,000 18- and 19-year-old United Kingdom twins completed tests assessing their face recognition, object recognition, and general cognitive abilities. Results confirmed the substantial heritability of face recognition (61%), and multivariate genetic analyses found that most of this genetic influence is unique and not shared with other cognitive abilities.

  14. Somatically acquired structural genetic differences

    DEFF Research Database (Denmark)

    Magaard Koldby, Kristina; Nygaard, Marianne; Christensen, Kaare

    2016-01-01

    Structural genetic variants like copy number variants (CNVs) comprise a large part of human genetic variation and may be inherited as well as somatically acquired. Recent studies have reported the presence of somatically acquired structural variants in the human genome and it has been suggested t...... with age.European Journal of Human Genetics advance online publication, 20 April 2016; doi:10.1038/ejhg.2016.34....

  15. Graphical models for genetic analyses

    DEFF Research Database (Denmark)

    Lauritzen, Steffen Lilholt; Sheehan, Nuala A.

    2003-01-01

    This paper introduces graphical models as a natural environment in which to formulate and solve problems in genetics and related areas. Particular emphasis is given to the relationships among various local computation algorithms which have been developed within the hitherto mostly separate areas...... of graphical models and genetics. The potential of graphical models is explored and illustrated through a number of example applications where the genetic element is substantial or dominating....

  16. Statistical methods in spatial genetics

    DEFF Research Database (Denmark)

    Guillot, Gilles; Leblois, Raphael; Coulon, Aurelie

    2009-01-01

    The joint analysis of spatial and genetic data is rapidly becoming the norm in population genetics. More and more studies explicitly describe and quantify the spatial organization of genetic variation and try to relate it to underlying ecological processes. As it has become increasingly difficult...... to keep abreast with the latest methodological developments, we review the statistical toolbox available to analyse population genetic data in a spatially explicit framework. We mostly focus on statistical concepts but also discuss practical aspects of the analytical methods, highlighting not only...

  17. Genetics Home Reference: osteoglophonic dysplasia

    Science.gov (United States)

    ... 1 link) Genetic Testing Registry: Osteoglophonic dysplasia Other Diagnosis and Management Resources (1 link) Seattle Children's Hospital: Dwarfism and Bone Dysplasias General Information from MedlinePlus (5 ...

  18. Genetic effects of ionizing radiation

    International Nuclear Information System (INIS)

    Myers, D.K.; Childs, J.D.

    1980-01-01

    The genetic material in living organisms is susceptible to damage from a wide variety of causes including radiation exposure. Most of this damage is repaired by the organism; the residual damage and damage which is not correctly repaired can lead to genetic changes such as mutations. In lower organisms, most offspring carry an unaltered copy of the genetic information that was present in the parental organism, most of the genetic changes which do occur are not caused by natural background radiation, and the increase in frequency of genetic changes after irradiation at low-dose rates is directly proportional to total radiation dose. The same principles appear to be valid in mammals and other higher organisms. About 105 out of every 1000 humans born suffer from some genetic or partly-genetic condition requiring medical attention at some time. It has been estimated that approximately 1 person in every 2000 born carry a deleterious genetic mutation that was caused by the continued exposure of many generations of our ancestors to natural background radiation. On the same basis, it is predicted that the incidence of genetic diseases would be increased to 106 per 1000 in the children and grandchildren of radiation workers who were exposed to 1 rem per year commencing at age 18. However, there was no detectable change in the health and fitness of mice whose male ancestors were repeatedly exposed to high radiation doses up to 900 rem per generation. (auth)

  19. On Gene Concepts and Teaching Genetics: Episodes from Classical Genetics

    Science.gov (United States)

    Burian, Richard M.

    2013-01-01

    This paper addresses the teaching of advanced high school courses or undergraduate courses for non-biology majors about genetics or history of genetics. It will probably be difficult to take the approach described here in a high school science course, although the general approach could help improve such courses. It would be ideal for a college…

  20. Analysis of genetic polymorphism and genetic distance among four ...

    African Journals Online (AJOL)

    use

    2011-11-21

    Nov 21, 2011 ... The genomes of 4 sheep populations {Yuanqu white Tan sheep (YWT), Baozhongchang white Tan sheep. (BWT), black Tan sheep (BT) and small-tailed Han sheep (Han)} were screened using 10 microsatellite. DNA markers to estimate the genetic diversities and genetic distances among these ...

  1. Towards a genetic architecture of cryptic genetic variation and ...

    Indian Academy of Sciences (India)

    Unknown

    reprinted in this issue as a J. Genet. classic, pages 227–257). IAN DWORKIN* ... In this commentary, I will discuss the context of this work examining the genetic ... mental buffering where development was channelled in one of several ...

  2. An analysis of the genetic diversity and genetic structure of ...

    African Journals Online (AJOL)

    Scientific approaches to conservation of threatened species depend on a good understanding of the genetic information of wild and artificial population. The genetic diversity and structure analysis of 10 Eucommia ulmoides population was analyzed using inter-simple sequence repeat (ISSR) markers in this paper.

  3. Estimates of genetic parameters and genetic gains for growth traits ...

    African Journals Online (AJOL)

    Estimates of genetic parameters and genetic gains for growth traits of two Eucalyptus ... In South Africa, Eucalyptus urophylla is an important species due to its ... as hybrid parents to cross with E. grandis was 59.8% over the population mean.

  4. Genetics in the art and art in genetics.

    Science.gov (United States)

    Bukvic, Nenad; Elling, John W

    2015-01-15

    "Healing is best accomplished when art and science are conjoined, when body and spirit are probed together", says Bernard Lown, in his book "The Lost Art of Healing". Art has long been a witness to disease either through diseases which affected artists or diseases afflicting objects of their art. In particular, artists have often portrayed genetic disorders and malformations in their work. Sometimes genetic disorders have mystical significance; other times simply have intrinsic interest. Recognizing genetic disorders is also an art form. From the very beginning of my work as a Medical Geneticist I have composed personal "algorithms" to piece together evidence of genetics syndromes and diseases from the observable signs and symptoms. In this paper we apply some 'gestalt' Genetic Syndrome Diagnostic algorithms to virtual patients found in some art masterpieces. In some the diagnosis is clear and in others the artists' depiction only supports a speculative differential diagnosis. Copyright © 2014 Elsevier B.V. All rights reserved.

  5. Genetics of Childhood Obesity

    Directory of Open Access Journals (Sweden)

    Jianhua Zhao

    2011-01-01

    Full Text Available Obesity is a major health problem and an immense economic burden on the health care systems both in the United States and the rest of the world. The prevalence of obesity in children and adults in the United States has increased dramatically over the past decade. Besides environmental factors, genetic factors are known to play an important role in the pathogenesis of obesity. Genome-wide association studies (GWAS have revealed strongly associated genomic variants associated with most common disorders; indeed there is general consensus on these findings from generally positive replication outcomes by independent groups. To date, there have been only a few GWAS-related reports for childhood obesity specifically, with studies primarily uncovering loci in the adult setting instead. It is clear that a number of loci previously reported from GWAS analyses of adult BMI and/or obesity also play a role in childhood obesity.

  6. Genetics of diabetic nephropathy

    DEFF Research Database (Denmark)

    Parving, H H; Tarnow, L; Rossing, P

    1996-01-01

    factor for cardiovascular disease in diabetic patients. However, a meta-analysis does not support the suggestion that this factor plays any role for the initiation of diabetic nephropathy. Similar negative results have been obtained in relation to polymorphisms of the genes encoding for angiotensinogen......Diabetic nephropathy is a clinical syndrome characterized by persistent albuminuria, a relentless decline in GFR, raised arterial blood pressure, and increased relative mortality for cardiovascular diseases. Diabetic nephropathy is a leading cause of end-stage renal failure. The pathogenesis...... of diabetic nephropathy is multifactorial, with contributions from metabolic abnormalities, hemodynamic alterations, and various growth factors and genetic factors. Epidemiologic and family studies have demonstrated that only a subset of the patients develop this complication that family clustering...

  7. Amplifying genetic logic gates.

    Science.gov (United States)

    Bonnet, Jerome; Yin, Peter; Ortiz, Monica E; Subsoontorn, Pakpoom; Endy, Drew

    2013-05-03

    Organisms must process information encoded via developmental and environmental signals to survive and reproduce. Researchers have also engineered synthetic genetic logic to realize simpler, independent control of biological processes. We developed a three-terminal device architecture, termed the transcriptor, that uses bacteriophage serine integrases to control the flow of RNA polymerase along DNA. Integrase-mediated inversion or deletion of DNA encoding transcription terminators or a promoter modulates transcription rates. We realized permanent amplifying AND, NAND, OR, XOR, NOR, and XNOR gates actuated across common control signal ranges and sequential logic supporting autonomous cell-cell communication of DNA encoding distinct logic-gate states. The single-layer digital logic architecture developed here enables engineering of amplifying logic gates to control transcription rates within and across diverse organisms.

  8. Genetic study on yeast

    International Nuclear Information System (INIS)

    Mortimer, R.K.

    1981-01-01

    Research during the past year has moved ahead on several fronts. A major compilation of all the genetic mapping data for the yeast Saccharomyces cerevisiae has been completed. The map describes the location of over 300 genes on 17 chromosomes. A report on this work will appear in Microbiological Reviews in December 1980. Recombinant DNA procedures have been introduced into the experiments and RAD52 (one of the genes involved in recombination and repair damage), has been successfully cloned. This clone will be used to determine the gene product. Diploid cells homozygous for RAD52 have exceptionally high frequencies of mitotic loss of chromosomes. This loss is stimulated by ionizing radiation. This effect is a very significant finding. The effect has also been seen with certain other RAD mutants

  9. Genetic algorithm essentials

    CERN Document Server

    Kramer, Oliver

    2017-01-01

    This book introduces readers to genetic algorithms (GAs) with an emphasis on making the concepts, algorithms, and applications discussed as easy to understand as possible. Further, it avoids a great deal of formalisms and thus opens the subject to a broader audience in comparison to manuscripts overloaded by notations and equations. The book is divided into three parts, the first of which provides an introduction to GAs, starting with basic concepts like evolutionary operators and continuing with an overview of strategies for tuning and controlling parameters. In turn, the second part focuses on solution space variants like multimodal, constrained, and multi-objective solution spaces. Lastly, the third part briefly introduces theoretical tools for GAs, the intersections and hybridizations with machine learning, and highlights selected promising applications.

  10. Genetics of pediatric obesity.

    Science.gov (United States)

    Manco, Melania; Dallapiccola, Bruno

    2012-07-01

    Onset of obesity has been anticipated at earlier ages, and prevalence has dramatically increased worldwide over the past decades. Epidemic obesity is mainly attributable to modern lifestyle, but family studies prove the significant role of genes in the individual's predisposition to obesity. Advances in genotyping technologies have raised great hope and expectations that genetic testing will pave the way to personalized medicine and that complex traits such as obesity will be prevented even before birth. In the presence of the pressing offer of direct-to-consumer genetic testing services from private companies to estimate the individual's risk for complex phenotypes including obesity, the present review offers pediatricians an update of the state of the art on genomics obesity in childhood. Discrepancies with respect to genomics of adult obesity are discussed. After an appraisal of findings from genome-wide association studies in pediatric populations, the rare variant-common disease hypothesis, the theoretical soil for next-generation sequencing techniques, is discussed as opposite to the common disease-common variant hypothesis. Next-generation sequencing techniques are expected to fill the gap of "missing heritability" of obesity, identifying rare variants associated with the trait and clarifying the role of epigenetics in its heritability. Pediatric obesity emerges as a complex phenotype, modulated by unique gene-environment interactions that occur in periods of life and are "permissive" for the programming of adult obesity. With the advent of next-generation sequencing techniques and advances in the field of exposomics, sensitive and specific tools to predict the obesity risk as early as possible are the challenge for the next decade.

  11. Agrobacterium: nature's genetic engineer.

    Science.gov (United States)

    Nester, Eugene W

    2014-01-01

    Agrobacterium was identified as the agent causing the plant tumor, crown gall over 100 years ago. Since then, studies have resulted in many surprising observations. Armin Braun demonstrated that Agrobacterium infected cells had unusual nutritional properties, and that the bacterium was necessary to start the infection but not for continued tumor development. He developed the concept of a tumor inducing principle (TIP), the factor that actually caused the disease. Thirty years later the TIP was shown to be a piece of a tumor inducing (Ti) plasmid excised by an endonuclease. In the next 20 years, most of the key features of the disease were described. The single-strand DNA (T-DNA) with the endonuclease attached is transferred through a type IV secretion system into the host cell where it is likely coated and protected from nucleases by a bacterial secreted protein to form the T-complex. A nuclear localization signal in the endonuclease guides the transferred strand (T-strand), into the nucleus where it is integrated randomly into the host chromosome. Other secreted proteins likely aid in uncoating the T-complex. The T-DNA encodes enzymes of auxin, cytokinin, and opine synthesis, the latter a food source for Agrobacterium. The genes associated with T-strand formation and transfer (vir) map to the Ti plasmid and are only expressed when the bacteria are in close association with a plant. Plant signals are recognized by a two-component regulatory system which activates vir genes. Chromosomal genes with pleiotropic functions also play important roles in plant transformation. The data now explain Braun's old observations and also explain why Agrobacterium is nature's genetic engineer. Any DNA inserted between the border sequences which define the T-DNA will be transferred and integrated into host cells. Thus, Agrobacterium has become the major vector in plant genetic engineering.

  12. Genetic aspects of polydactyly.

    Science.gov (United States)

    Zguricas, J; Heutink, P; Heredero, L; Deurloo, J; Oostra, B A; Snijders, P J; Lindhout, D; Hovius, S E

    1996-07-01

    The early limb development follows the similar pattern in all vertebrates since different species develop using the same regulatory genes in the formation of the body plan. Some of these genes remained well conserved during evolution and can be traced back as far as Drosophila--while some others changed their structure or developed new functions. This is why the limbs from different animals still look different from one another. However, all existing tetrapods have, like Homo Sapiens, limbs with five, or fewer digits. It has been argued that the interplay of the factors controlling the patterning and differentiation during the embryonal limb development can provide five distinct "genotypes" allowing development of only five different digits. This would imply that the Greek definition of polydactyly, namely "duplication of the finger or a part of it", is correct, not only in morphological but also in a genetical sense. Genes involved in the determination of the outline of the limb are candidates for disorders like polydactyly and syndactyly. Recently, we have localised the gene for triphalangeal thumb (TPT) on chromosome 7q. As almost 50% of our patient population also had rudimentary postaxial polydactyly and/or syndactyly, the interesting question arose whether the TPT gene also was responsible for isolated post-axial polydactyly. Our preliminary evidence suggests, however, that different gene(s) are involved in the pathomorphogenesis of postaxial polydactyly. Studies of human congenital hand malformations--combined with genetic studies in lower vertebrates--will help us to understand not only the molecular basis of these disorders, but also to get insight into the fascinating mechanisms involved in the normal development of the human hand.

  13. Plant Genetic Resources: Selected Issues from Genetic Erosion to Genetic Engineering

    Directory of Open Access Journals (Sweden)

    Karl Hammer

    2008-04-01

    Full Text Available Plant Genetic Resources (PGR continue to play an important role in the development of agriculture. The following aspects receive a special consideration:1. Definition. The term was coined in 1970. The genepool concept served as an important tool in the further development. Different approaches are discussed.2. Values of Genetic Resources. A short introduction is highlighting this problem and stressing the economic usfulness of PGR.3. Genetic Erosion. Already observed by E. Baur in 1914, this is now a key issue within PGR. The case studies cited include Ethiopia, Italy, China, S Korea, Greece and S. Africa. Modern approaches concentrate on allelic changes in varieties over time but neglect the landraces. The causes and consequences of genetic erosion are discussed.4. Genetic Resources Conservation. Because of genetic erosion there is a need for conservation. PGR should be consigned to the appropriate method of conservation (ex situ, in situ, on-farm according to the scientific basis of biodiversity (genetic diversity, species diversity, ecosystem diversity and the evolutionary status of plants (cultivated plants, weeds, related wild plants (crop wild relatives.5. GMO. The impact of genetically engineered plants on genetic diversity is discussed.6. The Conclusions and Recommendations stress the importance of PGR. Their conservation and use are urgent necessities for the present development and future survival of mankind.

  14. Genetics Home Reference: ADNP syndrome

    Science.gov (United States)

    ... if a disorder seems to run in my family? What is the prognosis of a genetic condition? Genetic and ... It is estimated to account for 0.17 percent of all cases of autism spectrum disorder, making it one of the most common ...

  15. Basic Genetics: A Human Approach.

    Science.gov (United States)

    Biological Sciences Curriculum Study, Colorado Springs, CO. Center for Education in Human and Medical Genetics.

    This document (which has the form of a magazine) provides a variety of articles, stories, editorials, letters, interviews, and other types of magazine features (such as book reviews) which focus on human genetics. In addition to providing information about the principles of genetics, nearly all of the sections in the "magazine" address moral,…

  16. Difficulties in Genetics Problem Solving.

    Science.gov (United States)

    Tolman, Richard R.

    1982-01-01

    Examined problem-solving strategies of 30 high school students as they solved genetics problems. Proposes a new sequence of teaching genetics based on results: meiosis, sex chromosomes, sex determination, sex-linked traits, monohybrid and dihybrid crosses (humans), codominance (humans), and Mendel's pea experiments. (JN)

  17. Genetic engineering of microbial pesticides

    Science.gov (United States)

    Bruce C. Carlton

    1985-01-01

    Recent advances in genetics and molecular biology make possible the cloning and genetic manipulation of genes for insecticidal activities from natural insect pathogens. Using recombinant DNA methods and site-directed mutagenesis of specific gene regions, production of new and improved biorationals should be possible.

  18. Genetic basis of chronic pancreatitis

    NARCIS (Netherlands)

    Jansen, JBMJ; Morsche, RT; van Goor, Harry; Drenth, JPH

    2002-01-01

    Background: Pancreatitis has a proven genetic basis in a minority of patients. Methods: Review of the literature on genetics of pancreatitis. Results: Ever since the discovery that in most patients with hereditary pancreatitis a mutation in the gene encoding for cationic trypsinogen (R122H) was

  19. Protocols in human molecular genetics

    National Research Council Canada - National Science Library

    Mathew, Christopher G

    1991-01-01

    ... sequences has led to the development of DNA fingerprinting. The application of these techniques to the study of the human genome has culminated in major advances such as the cloning of the cystic fibrosis gene, the construction of genetic linkage maps of each human chromosome, the mapping of many genes responsible for human inherited disorders, genet...

  20. Medical Genetics Is Not Eugenics

    Science.gov (United States)

    Cowan, Ruth Schwartz

    2008-01-01

    The connection that critics make between medical genetics and eugenics is historically fallacious. Activists on the political right are as mistaken as activists on the political left: Genetic screening was not eugenics in the past, is not eugenics in the present, and, unless its technological systems become radically transformed, will not be…

  1. Mapping public policy on genetics.

    Science.gov (United States)

    Weisfeld, N E

    2002-06-01

    The mapping of the human genome and related advances in genetics are stimulating the development of public policies on genetics. Certain notions that currently prevail in public policy development overall--including the importance of protecting privacy of information, an interest in cost-effectiveness, and the power of the anecdote--will help determine the future of public policy on genetics. Information areas affected include discrimination by insurers and employers, confidentiality, genetic databanks, genetic testing in law enforcement, and court-ordered genetic testing in civil cases. Service issues address clinical standards, insurance benefits, allocation of resources, and screening of populations at risk. Supply issues encompass funding of research and clinical positions. Likely government actions include, among others: (1) Requiring individual consent for the disclosure of personal information, except when such consent would impose inordinate costs; (2) licensing genetic databases; (3) allowing courts to use personal information in cases where a refusal to use such information would offend the public; (4) mandating health insurers to pay for cost-effective genetic services; (5) funding pharmaceutical research to develop tailored products to prevent or treat diseases; and (6) funding training programs.

  2. Genetic disorders as collective phenomena

    International Nuclear Information System (INIS)

    Chela-Flores, J.

    1987-05-01

    Genetic disorders due to human chromosome aberrations in number are discussed from the point of view of Molecular Genetics. The etiology of trisomy is discussed in the light of the collective variables recently introduced and an age-dependent metabolic disorder is suggested as a possible etiological factor. (author). 11 refs

  3. Genetically modified foods and allergy.

    Science.gov (United States)

    Lee, T H; Ho, H K; Leung, T F

    2017-06-01

    2015 marked the 25th anniversary of the commercial use and availability of genetically modified crops. The area of planted biotech crops cultivated globally occupies a cumulative two billion hectares, equivalent to twice the land size of China or the United States. Foods derived from genetically modified plants are widely consumed in many countries and genetically modified soybean protein is extensively used in processed foods throughout the industrialised countries. Genetically modified food technology offers a possible solution to meet current and future challenges in food and medicine. Yet there is a strong undercurrent of anxiety that genetically modified foods are unsafe for human consumption, sometimes fuelled by criticisms based on little or no firm evidence. This has resulted in some countries turning away food destined for famine relief because of the perceived health risks of genetically modified foods. The major concerns include their possible allergenicity and toxicity despite the vigorous testing of genetically modified foods prior to marketing approval. It is imperative that scientists engage the public in a constructive evidence-based dialogue to address these concerns. At the same time, improved validated ways to test the safety of new foods should be developed. A post-launch strategy should be established routinely to allay concerns. Mandatory labelling of genetically modified ingredients should be adopted for the sake of transparency. Such ingredient listing and information facilitate tracing and recall if required.

  4. Genetic determinants of facial clefting

    DEFF Research Database (Denmark)

    Jugessur, Astanand; Shi, Min; Gjessing, Håkon Kristian

    2009-01-01

    BACKGROUND: Facial clefts are common birth defects with a strong genetic component. To identify fetal genetic risk factors for clefting, 1536 SNPs in 357 candidate genes were genotyped in two population-based samples from Scandinavia (Norway: 562 case-parent and 592 control-parent triads; Denmark...

  5. Landscape genetics and limiting factors

    Science.gov (United States)

    Samuel A. Cushman; Andrew J. Shirk; Erin L. Landguth

    2013-01-01

    Population connectivity is mediated by the movement of organisms or propagules through landscapes. However, little is known about how variation in the pattern of landscape mosaics affects the detectability of landscape genetic relationships. The goal of this paper is to explore the impacts of limiting factors on landscape genetic processes using simulation...

  6. Defining asthma in genetic studies

    NARCIS (Netherlands)

    Koppelman, GH; Postma, DS; Meijer, G.

    1999-01-01

    Genetic studies have been hampered by the lack of a gold standard to diagnose asthma. The complex nature of asthma makes it more difficult to identify asthma genes. Therefore, approaches to define phenotypes, which have been successful in other genetically complex diseases, may be applied to define

  7. Genetic risks of ionizing radiation

    International Nuclear Information System (INIS)

    Sankaranarayanan, K.

    1990-01-01

    Quantitative genetic risk estimation is made using two methods: the direct method, and the doubling dose (DD) method. The doubling dose currently used is 1 Gy for low LET, low dose, low dose rate irradiation, and is based on mouse data. Tables present the 1988 UNSCEAR estimates of genetic risk using both methods. (L.L.) (Tab.)

  8. Genetic effects of ionising radiation

    International Nuclear Information System (INIS)

    Saunders, P.A.H.

    1991-12-01

    Ionizing radiation effects on the gem cells, which can result in genetic abnormalities, are described. The basic mechanisms of radiation interactions with chromosomes, or specifically DNA, which can result in radiation induced mutation are discussed. Methods of estimating genetic risks, and some values for quantitative risk estimates are given. (U.K.). 13 refs., 2 figs., 1 tab

  9. Reverse genetics of avian metapneumoviruses

    Science.gov (United States)

    An overview of avian metapneumovirus (aMPV) infection in turkeys and development of a reverse genetics system for aMPV subgroup C (aMPV-C) virus will be presented. By using reverse genetics technology, we generated recombinant aMPV-C viruses containing a different length of glycoprotein (G) gene or...

  10. Genetics Home Reference: Gaucher disease

    Science.gov (United States)

    ... 500 to 1,000 people of Ashkenazi Jewish heritage. The other forms of Gaucher disease are uncommon and do not occur more frequently in people of Ashkenazi Jewish descent. Related Information What information about a genetic condition can statistics provide? Why are some genetic ...

  11. Quantitative genetics of disease traits.

    Science.gov (United States)

    Wray, N R; Visscher, P M

    2015-04-01

    John James authored two key papers on the theory of risk to relatives for binary disease traits and the relationship between parameters on the observed binary scale and an unobserved scale of liability (James Annals of Human Genetics, 1971; 35: 47; Reich, James and Morris Annals of Human Genetics, 1972; 36: 163). These two papers are John James' most cited papers (198 and 328 citations, November 2014). They have been influential in human genetics and have recently gained renewed popularity because of their relevance to the estimation of quantitative genetics parameters for disease traits using SNP data. In this review, we summarize the two early papers and put them into context. We show recent extensions of the theory for ascertained case-control data and review recent applications in human genetics. © 2015 Blackwell Verlag GmbH.

  12. Future possibilities in migraine genetics

    DEFF Research Database (Denmark)

    Rudkjøbing, Laura Aviaja; Esserlind, Ann-Louise; Olesen, Jes

    2012-01-01

    Migraine with and without aura (MA and MO, respectively) have a strong genetic basis. Different approaches using linkage-, candidate gene- and genome-wide association studies have been explored, yielding limited results. This may indicate that the genetic component in migraine is due to rare...... variants; capturing these will require more detailed sequencing in order to be discovered. Next-generation sequencing (NGS) techniques such as whole exome and whole genome sequencing have been successful in finding genes in especially monogenic disorders. As the molecular genetics research progresses......, the technology will follow, rendering these approaches more applicable in the search for causative migraine genes in MO and MA. To date, no studies using NGS in migraine genetics have been published. In order to gain insight into the future possibilities of migraine genetics, we have looked at NGS studies...

  13. Genetic View To Stroke Occurrence

    Directory of Open Access Journals (Sweden)

    Sadegh Yoosefee

    2017-02-01

    Full Text Available Stroke is the third leading cause of death. The role of genetics in the etiology and development of this disease is undeniable. As a result of inadequate previous research, more and more studies in the field of genetics are necessary to identify pathways involved in the pathogenesis of stroke, which in turn, may lead to new therapeutic approaches. However, due to the multifactorial nature of stroke and the few studies conducted in this field, genetic diversity is able to predict only a small fraction of the risk of disease. On the other hand, studies have shown genetically different architecture for different types of stroke, and finally pharmacogenomics as an important part of personalized medicine approach, is influenced by genetic studies, all of which confirm the need of addressing the topic by researchers.

  14. Recent advances in epilepsy genetics.

    Science.gov (United States)

    Orsini, Alessandro; Zara, Federico; Striano, Pasquale

    2018-02-22

    In last few years there has been rapid increase in the knowledge of epilepsy genetics. Nowadays, it is estimated that genetic epilepsies include over than 30% of all epilepsy syndromes. Several genetic tests are now available for diagnostic purposes in clinical practice. In particular, next-generation sequencing has proven to be effective in revealing gene mutations causing epilepsies in up to a third of the patients. This has lead also to functional studies that have given insight into disease pathophysiology and consequently to the identification of potential therapeutic targets opening the way of precision medicine for epilepsy patients. This minireview is focused on the most recent advances in genetics of epilepsies. We will also overview the modern genomic technologies and illustrate the diagnostic pathways in patients with genetic epilepsies. Finally, the potential implications for a personalized treatment (precision medicine) are also discussed. Copyright © 2017 Elsevier B.V. All rights reserved.

  15. Behavior genetics: Bees as model

    International Nuclear Information System (INIS)

    Nates Parra, Guiomar

    2011-01-01

    The honeybee Apis mellifera (Apidae) is a model widely used in behavior because of its elaborate social life requiring coordinate actions among the members of the society. Within a colony, division of labor, the performance of tasks by different individuals, follows genetically determined physiological changes that go along with aging. Modern advances in tools of molecular biology and genomics, as well as the sequentiation of A. mellifera genome, have enabled a better understanding of honeybee behavior, in particular social behavior. Numerous studies show that aspects of worker behavior are genetically determined, including defensive, hygienic, reproductive and foraging behavior. For example, genetic diversity is associated with specialization to collect water, nectar and pollen. Also, control of worker reproduction is associated with genetic differences. In this paper, I review the methods and the main results from the study of the genetic and genomic basis of some behaviors in bees.

  16. Genetic diversity in Trichomonas vaginalis.

    Science.gov (United States)

    Meade, John C; Carlton, Jane M

    2013-09-01

    Recent advances in genetic characterisation of Trichomonas vaginalis isolates show that the extensive clinical variability in trichomoniasis and its disease sequelae are matched by significant genetic diversity in the organism itself, suggesting a connection between the genetic identity of isolates and their clinical manifestations. Indeed, a high degree of genetic heterogeneity in T vaginalis isolates has been observed using multiple genotyping techniques. A unique two-type population structure that is both local and global in distribution has been identified, and there is evidence of recombination within each group, although sexual recombination between the groups appears to be constrained. There is conflicting evidence in these studies for correlations between T vaginalis genetic identity and clinical presentation, metronidazole susceptibility, and the presence of T vaginalis virus, underscoring the need for adoption of a common standard for genotyping the parasite. Moving forward, microsatellite genotyping and multilocus sequence typing are the most robust techniques for future investigations of T vaginalis genotype-phenotype associations.

  17. Scientific discovery using genetic programming

    DEFF Research Database (Denmark)

    Keijzer, Maarten

    2001-01-01

    programming paradigm. The induction of mathematical expressions based on data is called symbolic regression. In this work, genetic programming is extended to not just fit the data i.e., get the numbers right, but also to get the dimensions right. For this units of measurement are used. The main contribution......Genetic Programming is capable of automatically inducing symbolic computer programs on the basis of a set of examples or their performance in a simulation. Mathematical expressions are a well-defined subset of symbolic computer programs and are also suitable for optimization using the genetic...... in this work can be summarized as: The symbolic expressions produced by genetic programming can be made suitable for analysis and interpretation by using units of measurements to guide or restrict the search. To achieve this, the following has been accomplished: A standard genetic programming system...

  18. On Gene Concepts and Teaching Genetics: Episodes from Classical Genetics

    Science.gov (United States)

    Burian, Richard M.

    2013-02-01

    This paper addresses the teaching of advanced high school courses or undergraduate courses for non-biology majors about genetics or history of genetics. It will probably be difficult to take the approach described here in a high school science course, although the general approach could help improve such courses. It would be ideal for a college course in history of genetics or a course designed to teach non-science majors how science works or the rudiments of the genetics in a way that will help them as citizens. The approach aims to teach the processes of discovery, correction, and validation by utilizing illustrative episodes from the history of genetics. The episodes are treated in way that should foster understanding of basic questions about genes, the sorts of techniques used to answer questions about the constitution and structure of genes, how they function, and what they determine, and some of the major biological disagreements that arose in dealing with these questions. The material covered here could be connected to social and political issues raised by genetics, but these connections are not surveyed here. As it is, to cover this much territory, the article is limited to four major episodes from Mendel's paper to the beginning of World War II. A sequel will deal with the molecularization of genetics and with molecular gene concepts through the Human Genome Project.

  19. Reverse genetics with animal viruses. NSV reverse genetics

    International Nuclear Information System (INIS)

    Mebatsion, T.

    2005-01-01

    New strategies to genetically manipulate the genomes of several important animal pathogens have been established in recent years. This article focuses on the reverse genetics techniques, which enables genetic manipulation of the genomes of non-segmented negative-sense RNA viruses. Recovery of a negative-sense RNA virus entirely from cDNA was first achieved for rabies virus in 1994. Since then, reverse genetic systems have been established for several pathogens of medical and veterinary importance. Based on the reverse genetics technique, it is now possible to design safe and more effective live attenuated vaccines against important viral agents. In addition, genetically tagged recombinant viruses can be designed to facilitate serological differentiation of vaccinated animals from infected animals. The approach of delivering protective immunogens of different pathogens using a single vector was made possible with the introduction of the reverse genetics system, and these novel broad-spectrum vaccine vectors have potential applications in improving animal health in developing countries. (author)

  20. GENETIC DETERMINATIONS OF MENTALITY

    Directory of Open Access Journals (Sweden)

    L. V. Osadcha

    2015-12-01

    Full Text Available Purpose. The article is devoted to clarifying the role of physicality and psycho-physical characteristics of a person as a preconditions of the mentality forming. It is conducted a retrospective analysis of discourse on the mentality, the history of the concept, its temporal characteristics and collective conditioning. The concept of mentality has been widely studied in various fields of socio-humanities such as: history, psychology, and even marginal context of scientific discourses, including the esoteric. This study attempted to analyse the mentality phenomenon through the prism of the concept of experience. Methodology. The concept of experience was acquired by essential justification through the representatives of the phenomenological approach - the late Edmund Husserl, Maurice Merleau-Ponty, Bernhard Valdenfels. On the other hand the concept of mentality as a form of collective unconscious experience was entered to the scientific vocabulary by the representatives of the French historical science - M. Bloch, L. Febvre, J. Le Goff and others. At the intersection of these two methods, historical and phenomenological, the genetic method has been established – as a history of coverage and experience of internalization. Thanks to the application of genetic method the transition of phenomenon into the concept was examined. Novelty. The problem of change dynamics of mental phenomenon, in particular psycho-physical nature of a person, which has been only mentioned in F. Braudel works but has not received the adequate theoretical coverage, is analysed. To explain the practices of physicality and causality of this factor the action component of the cultural the overview of developments of such authors as V. Rozin (2005, M. Epstein (2005, N. Brunov (2003, A. Soares, M. Farhangmehr, A. Shoham (2007, D. Vaskul, F. Vannini Hospital (2012 was committed. Conclusions. The transition to paradoxical behaviour that is oriented on sign, and not on signalling

  1. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    Home; Journals; Journal of Genetics; Volume 80; Issue 1. Testing quantum dynamics in genetic information processing ... Keywords. assembly; computation; database search; DNA replication; genetic information; nucleotide base; polymerase enzyme; quantum coherence; quantum mechanics; quantum superposition.

  2. Genetics 101 --The Hereditary Material of Life

    Science.gov (United States)

    ... of this page please turn Javascript on. Feature: Genetics 101 Genetics 101 — The Hereditary Material of Life Past Issues / Summer 2013 Table of Contents Genetics is the study of heredity, the process in ...

  3. Sardinian Population (Italy): a Genetic Review

    African Journals Online (AJOL)

    thou

    , according to the classification suggested by Contini (1979). The genetic ... and to have maintained a genetic identity through their evolution: the cluster constituted ...... HLA class II haplotypes reveals that the Sardinian population is genetically.

  4. Genetics Home Reference: Meesmann corneal dystrophy

    Science.gov (United States)

    ... was first described in a large, multi-generational German family with more than 100 affected members. Since ... be inherited? More about Inheriting Genetic Conditions Diagnosis & Management Resources Genetic Testing (1 link) Genetic Testing Registry: ...

  5. Statistical methods and challenges in connectome genetics

    KAUST Repository

    Pluta, Dustin; Yu, Zhaoxia; Shen, Tong; Chen, Chuansheng; Xue, Gui; Ombao, Hernando

    2018-01-01

    The study of genetic influences on brain connectivity, known as connectome genetics, is an exciting new direction of research in imaging genetics. We here review recent results and current statistical methods in this area, and discuss some

  6. Genetic Testing: MedlinePlus Health Topic

    Science.gov (United States)

    ... Your Family's Health (National Institutes of Health) - PDF Topic Image MedlinePlus Email Updates Get Genetic Testing updates ... testing and your cancer risk Karyotyping Related Health Topics Birth Defects Genetic Counseling Genetic Disorders Newborn Screening ...

  7. Genetics Home Reference: glutaric acidemia type I

    Science.gov (United States)

    ... Glutaric acidemia type 1 in patients of Lumbee heritage from North Carolina. Mol Genet Metab. 2006 May; ... 825-8. Review. Citation on PubMed More from Genetics Home Reference Bulletins Genetics Home Reference Celebrates Its ...

  8. Radiation and transposon-induced genetic damage in Drosophila melanogaster

    International Nuclear Information System (INIS)

    Balter, H.; Griffith, C.S.; American Museum of Natural History, New York; Margulies, L.

    1992-01-01

    The interaction of X-ray-induced and transposon-induced damage was investigated in P-M hybrid dysgenesis in Drosophila melanogaster. X-ray dose-response of 330-1320 rad was monitored for sterility, fecundicity and partial X/Y chromosome loss among F 2 progeny derived from dysgenic cross of M strain females xP strain males (cross A) and its reciprocal (cross B), using a weaker and the standard Harwich P strain subline. The synergistic effect of P element activity and X-rays on sterility was observed only in cross A hybrids and the dose-response was nonlinear in hybrids derived from the strong standard reference Harwich subline, H W . This finding suggests that lesions induced by both mutator systems which produce the synergistic effects are 2-break events. Effect of increasing dose on the decline of fecundicity was synergistic, but linear, in hybrids of either subline. There was no interaction evident and thus no synergism in X/Y nondisjunction and partial Y chromosome loss measured by the loss of the B s marker alone or together with the y + marker. Interaction was detected in the loss of the y + marker alone from the X and Y chromosomes. The possible three-way interaction of X-rays (660 rad), post-replication repair deficiency and P elements mobility was assessed by measuring transmission distortion in dysgenic males derived from the Π 2 P strain. (author). 38 refs.; 5 tabs

  9. Genetically conditioned male sterility

    International Nuclear Information System (INIS)

    Gottschalk, W.

    1976-01-01

    A survey is given of two different types of genetically controlled male sterility in higher plants. 'Functional' male sterility is due to the action of mutated genes causing a misdifferentiation of the growing points in different specific ways. Under the influence of the genes of this group either the stamens or the archespore tissues are not differentiated. In other mutants functionable male germ cells are produced but cannot be used for fertilizing the egg cells because the anthers remain closed or anthers and stigma become spatially separated from each other. Other genes of the group are responsible for the transformation of stamens into carpels, i.e. for a change of the hermaphrodite flower into a unisexually female one. A second type of male sterility is due to the action of ms genes influencing the course of micro-sporogenesis directly. They cause the breakdown of this process in a specific meiotic stage characteristic for each gene of the group. This breakdown is introduced by the degeneration of PMCs, microspores, or pollen grains preventing the production of male germ cells. The female sex organs remain uninfluenced. (author)

  10. Genetics and alcoholism.

    Science.gov (United States)

    Edenberg, Howard J; Foroud, Tatiana

    2013-08-01

    Alcohol is widely consumed; however, excessive use creates serious physical, psychological and social problems and contributes to the pathogenesis of many diseases. Alcohol use disorders (that is, alcohol dependence and alcohol abuse) are maladaptive patterns of excessive drinking that lead to serious problems. Abundant evidence indicates that alcohol dependence (alcoholism) is a complex genetic disease, with variations in a large number of genes affecting a person's risk of alcoholism. Some of these genes have been identified, including two genes involved in the metabolism of alcohol (ADH1B and ALDH2) that have the strongest known affects on the risk of alcoholism. Studies continue to reveal other genes in which variants affect the risk of alcoholism or related traits, including GABRA2, CHRM2, KCNJ6 and AUTS2. As more variants are analysed and studies are combined for meta-analysis to achieve increased sample sizes, an improved picture of the many genes and pathways that affect the risk of alcoholism will be possible.

  11. The Marfan syndrome genetics

    Directory of Open Access Journals (Sweden)

    Galina Pungerčič

    2005-05-01

    Full Text Available Background: The Marfan syndrome is an autosomal dominant heritable disorder of connective tissue. It is caused by mutations in the fibrillin-1 gene encoding glycoprotein fibrillin-1, a component of microfibrils of extracellular matrix. Patients with Marfan syndrome show wide spectra of clinical signs, primarily on skeletal, cardiovascular and ocular organ systems. Cardiovascular complications (especially aortic aneurysm and aortic dissection are the most common cause of mortality of Marfan syndrome patients. Discovering genotype-phenotype correlations is complicated because of the large number of mutations reported as well as clinical heterogeneity among individuals with the same mutation. Despite the progress in the knowledge of the molecular nature of Marfan syndrome the diagnosis is still based mainly on the clinical features in the different body systems.Conclusions: Early identification of patient with Marfan syndrome is of considerable importance because of appropriate treatment that can greatly improve life expectancy. Unfortunately, despite the improvement of diagnostic methods, medical and surgical therapy, the mortality due to undiagnosed Marfan syndrome is still high. The present article reviews the molecular genetic studies of Marfan syndrome since the discovery of the mutations in the fibrillin-1 gene.

  12. Department of Genetics

    International Nuclear Information System (INIS)

    2000-01-01

    Full text: There are five independent research groups in the Department conducting the following lines of investigations: 1. Regulation of sulfur amino acid metabolism in fungi, focusing on cloning and characterisation of structural and regulatory genes in Aspergillus nidulans. 2. Identification and characterization of S. cerevisiae genes involved in the regulation of tRNA biosynthesis and control of translation fidelity in cytosolic and mitochondrial systems. 3. Mechanism of DNA repair and mutagenesis by using mutations in DNA polymerases, mismatch repair and radiation sensitivity genes to study their influence on the generation of mutations in nondividing, resting cells (adaptive mutations) in S. cerevisiae. 4. Pleiotropic effects of the S. cerevisiae IRR1 gene, particularily on colony formation and sister chromatid cohesion. 5. Regulation of heme synthesis in S. cerevisiae: the analysis of structure-function relationship of ferrochelatase (the last enzyme of the pathway). 6. Role of RSP5 the ubiquitin-protein ligase of S. cerevisiae in protein import to mitochondria and endocytosis of plasma membrane proteins. 7. Molecular analysis of the glucose-6-phosphate dehydrogenase gene in Polish 6-GDP deficient subjects. 8. Genetic and phylogenic studies of the Polish Bison bonasus population with the use of nuclear and mitochondrial markers

  13. Genetics of Endometrial Cancers

    Directory of Open Access Journals (Sweden)

    Tsuyoshi Okuda

    2010-01-01

    Full Text Available Endometrial cancers exhibit a different mechanism of tumorigenesis and progression depending on histopathological and clinical types. The most frequently altered gene in estrogen-dependent endometrioid endometrial carcinoma tumors is PTEN. Microsatellite instability is another important genetic event in this type of tumor. In contrast, p53 mutations or Her2/neu overexpression are more frequent in non-endometrioid tumors. On the other hand, it is possible that the clear cell type may arise from a unique pathway which appears similar to the ovarian clear cell carcinoma. K-ras mutations are detected in approximately 15%–30% of endometrioid carcinomas, are unrelated to the existence of endometrial hyperplasia. A β-catenin mutation was detected in about 20% of endometrioid carcinomas, but is rare in serous carcinoma. Telomere shortening is another important type of genomic instability observed in endometrial cancer. Only non-endometrioid endometrial carcinoma tumors were significantly associated with critical telomere shortening in the adjacent morphologically normal epithelium. Lynch syndrome, which is an autosomal dominantly inherited disorder of cancer susceptibility and is characterized by a MSH2/MSH6 protein complex deficiency, is associated with the development of non-endometrioid carcinomas.

  14. Conservation genetics of Iberian raptors

    Directory of Open Access Journals (Sweden)

    Martinez–Cruz, B.

    2011-12-01

    Full Text Available In this paper I provide an overview of conservation genetics and describe the management actions in the wild that can benefit from conservation genetic studies. I describe the genetic factors of risk for the survival of wild species, the consequences of loss of genetic diversity, inbreeding and outbreeding depression, and the use of genetic tools to delimitate units of conservation. Then I introduce the most common applications of conservation genetics in the management of wild populations. In a second part of the paper I review the conservation genetic studies carried on the Iberian raptors. I introduce several studies on the Spanish imperial eagle, the bearded vulture, the black vulture and the red kite that were carried out using autosomal microsatellite markers and mitochondrial DNA (mtDNA sequencing. I describe studies on the lesser kestrel and Egyptian vulture that additionally applied major histocompatibility complex (MHC markers, with the purpose of incorporating the study of non–neutral variation. For every species I explain how these studies can be and/or are applied in the strategy of conservation in the wild.

  15. Vegetable Genetic Resources in China

    Directory of Open Access Journals (Sweden)

    Haiping WANG

    2018-03-01

    Full Text Available China is recognized as an important region for plant biodiversity based on its vast and historical collection of vegetable germplasm. The aim of this review is to describe the exploration status of vegetable genetic resources in China, including their collection, preservation, evaluation, and utilization. China has established a number of national-level vegetable genetic resources preservation units, including the National Mid-term Genebank for Vegetable Germplasm Resources, the National Germplasm Repository for Vegetatively-Propagated Vegetables, and the National Germplasm Repository for Aquatic Vegetables. In 2015, at least 36 000 accessions were collected and preserved in these units. In the past decade, 44 descriptors and data standards for different species have been published, and most accessions have been evaluated for screening the germplasms for specific important traits such as morphological characteristics, disease resistance, pest resistance, and stress tolerance. Moreover, the genetic diversity and evolution of some vegetable germplasms have been evaluated at the molecular level. Recently, more than 1 000 accessions were distributed to researchers and breeders each year by various means for vegetable research and production. However, additional wild-relative and abroad germplasms from other regions need to be collected and preserved in the units to expand genetic diversity. Furthermore, there is a need to utilize advanced techniques to better understand the background and genetic diversity of a wide range of vegetable genetic resources. This review will provide agricultural scientists’ insights into the genetic diversity in China and provide information on the distribution and potential utilization of these valuable genetic resources. Keywords: vegetable, genetic resource, preservation, evaluation, utilization

  16. Genetic variability, heritability and genetic advance of quantitative ...

    African Journals Online (AJOL)

    ONOS

    2010-05-10

    May 10, 2010 ... coefficient of variation; h2, heritability; GA, genetic advance;. EMS, ethyl methane ... The analysis of variance (ANOVA) revealed the significance degree among the ... fullest extent. The estimates of range, phenotypic and.

  17. Selfish genetic elements, genetic conflict, and evolutionary innovation.

    Science.gov (United States)

    Werren, John H

    2011-06-28

    Genomes are vulnerable to selfish genetic elements (SGEs), which enhance their own transmission relative to the rest of an individual's genome but are neutral or harmful to the individual as a whole. As a result, genetic conflict occurs between SGEs and other genetic elements in the genome. There is growing evidence that SGEs, and the resulting genetic conflict, are an important motor for evolutionary change and innovation. In this review, the kinds of SGEs and their evolutionary consequences are described, including how these elements shape basic biological features, such as genome structure and gene regulation, evolution of new genes, origin of new species, and mechanisms of sex determination and development. The dynamics of SGEs are also considered, including possible "evolutionary functions" of SGEs.

  18. An analysis of the genetic diversity and genetic structure of ...

    African Journals Online (AJOL)

    ajl yemi

    2011-12-26

    Dec 26, 2011 ... relief, diuresis, blood pressure and lipid metabolism. (Kawasaki et al., 2000). ... Habitat. Longitude(N),. Latitude(E). Population size. Sample size. LY. Luoyang, Henan ..... Compared with the high genetic diversity at the species.

  19. Advances in genetics. Volume 22: Molecular genetics of plants

    International Nuclear Information System (INIS)

    Scandalios, J.G.; Caspari, E.W.

    1984-01-01

    This book contains the following four chapters: Structural Variation in Mitochondrial DNA; The Structure and Expression of Nuclear Genes in Higher Plants; Chromatin Structure and Gene Regulation in Higher Plants; and The Molecular Genetics of Crown Gall Tumorigenesis

  20. Genetic analysis of Schizosaccharomyces pombe

    DEFF Research Database (Denmark)

    Ekwall, Karl; Thon, Genevieve

    2017-01-01

    In this introduction we discuss some basic genetic tools and techniques that are used with the fission yeast Schizosaccharomyces pombe. Genes commonly used for selection or as reporters are discussed, with an emphasis on genes that permit counterselection, intragenic complementation, or colony......-color assays. S. pombe is most stable as a haploid organism. We describe its mating-type system, how to perform genetic crosses and methods for selecting and propagating diploids. We discuss the relative merits of tetrad dissection and random spore preparation in strain construction and genetic analyses...

  1. [Genetics and epigenetics in autism].

    Science.gov (United States)

    Nakayama, Atsuo; Masaki, Shiego; Aoki, Eiko

    2006-11-01

    Autism is a behaviorally defined syndrome characterized by impaired social interaction and communication, and restricted, stereotyped interests and behaviors. Several lines of evidence support the contention that genetic factors are a large component to autism etiology. However, in spite of vigorous genetic studies, no single causative or susceptibility gene common in autism has been identified. Thus multiple susceptibility genes in interaction are considered to account for the disorder. Furthermore, environmental risk factors can accelerate the autism development of. Recent advances in understanding the epigenetic regulation may shed light on the interaction among multiple genetic factors and environmental factors.

  2. Genetics and Forest Seed Handling

    DEFF Research Database (Denmark)

    Schmidt, Lars Holger

    2016-01-01

    High genetic quality seed is obtained from seed sources that match the planting site, have a good outcrossing rate, and are superior in some desirable characters. Non-degraded natural forests and plantations may be used as untested seed sources, which can sometimes be managed to promote outbreeding...... and increase seed production. Planted seed orchards aim at capturing large genetic variation and are planted in a design that facilitates genetic evaluation and promotes outbred seed production. Good seed production relies upon success of the whole range of reproductive events from flower differentiation...

  3. Genetic sex determination and extinction.

    Science.gov (United States)

    Hedrick, Philip W; Gadau, Jürgen; Page, Robert E

    2006-02-01

    Genetic factors can affect the probability of extinction either by increasing the effect of detrimental variants or by decreasing the potential for future adaptive responses. In a recent paper, Zayed and Packer demonstrate that low variation at a specific locus, the complementary sex determination (csd) locus in Hymenoptera (ants, bees and wasps), can result in a sharply increased probability of extinction. Their findings illustrate situations in which there is a feedback process between decreased genetic variation at the csd locus owing to genetic drift and decreased population growth, resulting in an extreme type of extinction vortex for these ecologically important organisms.

  4. The genetic basis of gout.

    Science.gov (United States)

    Merriman, Tony R; Choi, Hyon K; Dalbeth, Nicola

    2014-05-01

    Gout results from deposition of monosodium urate (MSU) crystals. Elevated serum urate concentrations (hyperuricemia) are not sufficient for the development of disease. Genome-wide association studies (GWAS) have identified 28 loci controlling serum urate levels. The largest genetic effects are seen in genes involved in the renal excretion of uric acid, with others being involved in glycolysis. Whereas much is understood about the genetic control of serum urate levels, little is known about the genetic control of inflammatory responses to MSU crystals. Extending knowledge in this area depends on recruitment of large, clinically ascertained gout sample sets suitable for GWAS. Copyright © 2014 Elsevier Inc. All rights reserved.

  5. An investigation of genetic algorithms

    International Nuclear Information System (INIS)

    Douglas, S.R.

    1995-04-01

    Genetic algorithms mimic biological evolution by natural selection in their search for better individuals within a changing population. they can be used as efficient optimizers. This report discusses the developing field of genetic algorithms. It gives a simple example of the search process and introduces the concept of schema. It also discusses modifications to the basic genetic algorithm that result in species and niche formation, in machine learning and artificial evolution of computer programs, and in the streamlining of human-computer interaction. (author). 3 refs., 1 tab., 2 figs

  6. Genetics Home Reference: X-linked acrogigantism

    Science.gov (United States)

    ... that is caused by pituitary gland abnormalities (pituitary gigantism). Related Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  7. Genetic Counseling: MedlinePlus Health Topic

    Science.gov (United States)

    ... Craniosynostosis as a clinical and diagnostic problem: molecular pathology and... Article: GENETICS IN ENDOCRINOLOGY: Genetic counseling for congenital ... March of Dimes Birth Defects Foundation Also in Spanish ...

  8. [The genetics of collagen diseases].

    Science.gov (United States)

    Kaplan, J; Maroteaux, P; Frezal, J

    1986-01-01

    Heritable disorders of collagen include Ehler-Danlos syndromes (11 types are actually known), Larsen syndrome and osteogenesis imperfecta. Their clinical, genetic and biochemical features are reviewed. Marfan syndrome is closely related to heritable disorders of collagen.

  9. Genetics of cardiomyopathies in children

    Directory of Open Access Journals (Sweden)

    Matteo Vatta

    2011-08-01

    Full Text Available Cardiomyopathies are diseases of the heart muscle leading to heart failure and/or an increased risk of arrhythmogenic sudden cardiac death. These disorders represent a major cause of morbidity and mortality in children. In childhood forms of cardiomyopathy, genetic etiologies are frequent, but non-genetic or acquired causes, such viral infection, also play a significant role. In the last twenty years, the genetic causes of cardiomyopathies have been increasingly identified and clinical correlations are beginning to be defined. Here we present an overview of the recent advances in our understanding of the genetics of cardiomyopathies in children and what is known about the pathophysiological mechanisms underlying these gene-related forms of disease.

  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: Tietz syndrome

    Science.gov (United States)

    ... represent a severe form of a disorder called Waardenburg syndrome , which can also be caused by MITF gene ... MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes. Eur J Hum Genet. 2012 May;20(5): ...

  12. Genetics Home Reference: fumarase deficiency

    Science.gov (United States)

    ... V, Tomlinson IP. The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency. BMC Med Genet. 2008 Mar 25;9:20. doi: 10.1186/1471-2350- ...

  13. Genetics Home Reference: atopic dermatitis

    Science.gov (United States)

    ... adults, the rashes typically occur on the wrists, ankles, and eyelids in addition to the bend of ... Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic ... Manual Consumer Version The University of Chicago Medicine World ...

  14. Genetics Home Reference: Williams syndrome

    Science.gov (United States)

    ... do well on tasks that involve spoken language, music, and learning by repetition (rote memorization). Affected individuals ... Resources (5 links) Disease InfoSearch: Williams syndrome Genetic Science Learning Center, University of Utah MalaCards: williams-beuren ...

  15. Genetics Home Reference: thanatophoric dysplasia

    Science.gov (United States)

    ... thanatophoric dysplasia and their potential therapeutic implications for achondroplasia. Am J Med Genet A. 2010 Jan;152A( ... of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon ...

  16. Journal of Genetics Online Resources

    Indian Academy of Sciences (India)

    /90/e25.pdf. Li H., Liang Y., Sui L., Gao X. and He C. 2011 Characterization of 10 polymorphic microsatellite markers for Mediterranean blue mussel Mytilus galloprovincialis by EST database mining and cross-species amplification. J. Genet.

  17. Genetics Home Reference: congenital hyperinsulinism

    Science.gov (United States)

    ... Topic: Hypoglycemia Health Topic: Metabolic Disorders Genetic and Rare Diseases Information Center (1 link) Congenital hyperinsulinism Educational Resources (7 links) Boston Children's Hospital: Hypoglycemia and Low Blood Sugar in Children Cook Children's Hospital (PDF) Disease InfoSearch: ...

  18. Genetics Home Reference: Liddle syndrome

    Science.gov (United States)

    ... 3. Citation on PubMed Snyder PM, Price MP, McDonald FJ, Adams CM, Volk KA, Zeiher BG, Stokes ... 10 All Bulletins Features What is direct-to-consumer genetic testing? What are genome editing and CRISPR- ...

  19. Genetics Home Reference: Andermann syndrome

    Science.gov (United States)

    ... FQ, Mercado A, Siesser WB, George AL Jr, McDonald MP, Bouchard JP, Mathieu J, Delpire E, Rouleau ... 10 All Bulletins Features What is direct-to-consumer genetic testing? What are genome editing and CRISPR- ...

  20. Genetics Home Reference: Muenke syndrome

    Science.gov (United States)

    ... Shanske AL, Jehee FS, Bueno MR, Knightly C, McDonald-McGinn D, Zackai EH, Muenke M. Muenke syndrome ( ... 10 All Bulletins Features What is direct-to-consumer genetic testing? What are genome editing and CRISPR- ...

  1. Genetics Home Reference: Renpenning syndrome

    Science.gov (United States)

    ... 21. Citation on PubMed Tapia VE, Nicolaescu E, McDonald CB, Musi V, Oka T, Inayoshi Y, Satteson ... 10 All Bulletins Features What is direct-to-consumer genetic testing? What are genome editing and CRISPR- ...

  2. Genetics Home Reference: hereditary pancreatitis

    Science.gov (United States)

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

  3. Genetics Home Reference: spondylothoracic dysostosis

    Science.gov (United States)

    ... normal-length arms and legs, called short-trunk dwarfism. The spine and rib abnormalities, which are present ... Additional Information & Resources MedlinePlus (2 links) Health Topic: Dwarfism Health Topic: Spine Injuries and Disorders Genetic and ...

  4. Genetics Home Reference: geleophysic dysplasia

    Science.gov (United States)

    ... my area? Other Names for This Condition geleophysic dwarfism Related Information How are genetic conditions and genes ... and Rare Diseases Information Center (1 link) Geleophysic dwarfism Educational Resources (8 links) American Heart Association: Atrial ...

  5. Genetics Home Reference: Danon disease

    Science.gov (United States)

    ... are compartments in the cell that digest and recycle materials. The role the LAMP-2 protein plays ... Page Boucek D, Jirikowic J, Taylor M. Natural history of Danon disease. Genet Med. 2011 Jun;13( ...

  6. Evolutionary genetics: the Drosophila model

    Indian Academy of Sciences (India)

    Unknown

    Evolutionary genetics straddles the two fundamental processes of life, ... of the genus Drosophila have been used extensively as model systems in experimental ... issue will prove interesting, informative and thought-provoking for both estab-.

  7. What Froze the Genetic Code?

    Directory of Open Access Journals (Sweden)

    Lluís Ribas de Pouplana

    2017-04-01

    Full Text Available The frozen accident theory of the Genetic Code was a proposal by Francis Crick that attempted to explain the universal nature of the Genetic Code and the fact that it only contains information for twenty amino acids. Fifty years later, it is clear that variations to the universal Genetic Code exist in nature and that translation is not limited to twenty amino acids. However, given the astonishing diversity of life on earth, and the extended evolutionary time that has taken place since the emergence of the extant Genetic Code, the idea that the translation apparatus is for the most part immobile remains true. Here, we will offer a potential explanation to the reason why the code has remained mostly stable for over three billion years, and discuss some of the mechanisms that allow species to overcome the intrinsic functional limitations of the protein synthesis machinery.

  8. Journal of Genetics Online Resources

    Indian Academy of Sciences (India)

    , under which we will consider for pub- lication brief reports of the development and/or routine use of molecular markers for assessing genetic variability within and among species, as well as reports outlining useful pedagogical ...

  9. Genetics Home Reference: Miller syndrome

    Science.gov (United States)

    ... Sangiorgi E, Neri G. Limb anomalies: Developmental and evolutionary aspects. Am J Med Genet. 2002 Dec 30; ... genome editing and CRISPR-Cas9? What is precision medicine? What is newborn screening? New Pages Alopecia areata ...

  10. Genetics Home Reference: rheumatoid arthritis

    Science.gov (United States)

    ... Share: Email Facebook Twitter Home Health Conditions Rheumatoid arthritis Rheumatoid arthritis Printable PDF Open All Close All Enable ... in my area? Other Names for This Condition arthritis, rheumatoid RA Related Information How are genetic conditions and ...

  11. 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 & ...

  12. Genetics Home Reference: Stormorken syndrome

    Science.gov (United States)

    ... ichthyosis), headaches, and difficulty with reading and spelling (dyslexia). Related Information What does it mean if a ... new syndrome: thrombocytopathia, muscle fatigue, asplenia, miosis, migraine, dyslexia and ichthyosis. Clin Genet. 1985 Nov;28(5): ...

  13. COMPUTER METHODS OF GENETIC ANALYSIS.

    Directory of Open Access Journals (Sweden)

    A. L. Osipov

    2017-02-01

    Full Text Available The basic statistical methods used in conducting the genetic analysis of human traits. We studied by segregation analysis, linkage analysis and allelic associations. Developed software for the implementation of these methods support.

  14. Preimplantation diagnosis of genetic diseases

    Directory of Open Access Journals (Sweden)

    Adiga S

    2010-01-01

    Full Text Available One of the landmarks in clinical genetics is prenatal diagnosis of genetic disorders. The recent advances in the field have made it possible to diagnose the genetic conditions in the embryos before implantation in a setting of in vitro fertilization. Polymerase chain reaction and fluorescence in situ hybridization are the two common techniques employed on a single or two cells obtained via embryo biopsy. The couple who seek in vitro fertilization may screen their embryos for aneuploidy and the couple at risk for a monogenic disorder but averse to abortion of the affected fetuses after prenatal diagnosis, are likely to be the best candidates to undergo this procedure. This article reviews the technique, indications, benefits, and limitations of pre-implantation genetic testing in clinical practice.

  15. 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. ...

  16. Genetics Home Reference: genitopatellar syndrome

    Science.gov (United States)

    ... hypoplasia, renal anomalies, facial dysmorphism, and mental retardation GPS Related Information How are genetic conditions and genes ... Kwan A, Schlaubitz S, Barsh GS, Enns GM, Hudgins L. Genitopatellar syndrome: expanding the phenotype and excluding mutations ...

  17. Genetics Home Reference: Crohn disease

    Science.gov (United States)

    ... JH. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature. 2012 Nov 1; ... Health & Human Services National Institutes of Health National Library of Medicine Lister Hill National Center for Biomedical ...

  18. Genetics, Disease Prevention and Treatment

    Science.gov (United States)

    ... Care Genomic Medicine Working Group New Horizons and Research Patient Management Policy and Ethics Issues Quick Links for Patient Care Education All About the Human Genome Project Fact Sheets Genetic Education Resources for ...

  19. Talking Glossary of Genetic Terms

    Science.gov (United States)

    ... Care Genomic Medicine Working Group New Horizons and Research Patient Management Policy and Ethics Issues Quick Links for Patient Care Education All About the Human Genome Project Fact Sheets Genetic Education Resources for ...

  20. What Froze the Genetic Code?

    Science.gov (United States)

    Ribas de Pouplana, Lluís; Torres, Adrian Gabriel; Rafels-Ybern, Àlbert

    2017-04-05

    The frozen accident theory of the Genetic Code was a proposal by Francis Crick that attempted to explain the universal nature of the Genetic Code and the fact that it only contains information for twenty amino acids. Fifty years later, it is clear that variations to the universal Genetic Code exist in nature and that translation is not limited to twenty amino acids. However, given the astonishing diversity of life on earth, and the extended evolutionary time that has taken place since the emergence of the extant Genetic Code, the idea that the translation apparatus is for the most part immobile remains true. Here, we will offer a potential explanation to the reason why the code has remained mostly stable for over three billion years, and discuss some of the mechanisms that allow species to overcome the intrinsic functional limitations of the protein synthesis machinery.

  1. Medical Genetics In Clinical Practice

    African Journals Online (AJOL)

    1974-08-24

    Aug 24, 1974 ... Genetics is now an important facet of medical practice. and clinical ... facilities for cytogenetic and biochemical investigation are an essential ..... mem, and Rehabilitation (WHO Technical Report Series No. 497). Geneva: WHO ...

  2. Genetics Home Reference: MEGDEL syndrome

    Science.gov (United States)

    ... Leigh-like syndrome 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MEGDHEL syndrome SERAC1 ... Topic: Newborn Screening Genetic and Rare Diseases Information Center (1 ...

  3. Genetics Home Reference: familial erythrocytosis

    Science.gov (United States)

    ... tumors. Another form of acquired erythrocytosis, called polycythemia vera , results from somatic (non-inherited) mutations in other ... haematol.13250. Citation on PubMed Percy MJ, Rumi E. Genetic origins and clinical phenotype of familial and ...

  4. Genetics Home Reference: Costello syndrome

    Science.gov (United States)

    ... other genetic conditions, cardiofaciocutaneous syndrome (CFC syndrome) and Noonan syndrome . In affected infants, it can be difficult to ... These individuals may actually have CFC syndrome or Noonan syndrome , which are caused by mutations in related genes. ...

  5. Biological evolution: Some genetic considerations

    African Journals Online (AJOL)

    Mohammad Saad Zaghloul Salem

    2013-12-08

    Dec 8, 2013 ... cept of evolution, viz. genetic memory and evolutionary variations, genomic adaptations to stress .... or codons, along the transcript without giving attention to whether they are ... They do not affect the genome in a straightfor-.

  6. Dietary management and genetic predisposition

    DEFF Research Database (Denmark)

    Jensen, Hanne Holbæk; Larsen, Lesli Hingstrup

    2013-01-01

    variation, and epigenetics might identify additional genetic contributions to obesity, and the use of omics data with integration of nutrigenetics and nutrigenomics will identify genetic subgroups who will benefit from specific dietary advice to optimize health and prevent disease. Keywords: Diet . Mutation...... epidemically worldwide, the investigation of genetic predisposition might help to prevent and treat obesity. Predisposition to obesity includes syndromes, such as Prader-Willi Syndrome (PWS), severe early-onset obesity, such as mutations in the melanocortin 4 receptor (MC4R), and common forms of obesity......, such as genetic variation in the fat mass and obesity associated gene (FTO). Several studies have explored gene-diet interactions in obesity, weight loss, and regain, but there is a lack of consistency in the identified interactions. This inconsistency is most probably due to a low-moderate effect size...

  7. GENETIC ASPECTS OF SPORTS PERFORMANCE

    Directory of Open Access Journals (Sweden)

    Fatma Ebru KOKU

    2015-03-01

    Full Text Available As participation in both amateur and professional sports increases, so does the importance of sports performance and the factors influencing it. Determinants of success in sports can be classified as training, genetic, epigenetic, dietary, motivational, equipment and other environmental factors. The effect of genetics on sports performance and skill has been examined for many years. Autosomal genes, mitochondrial DNA and various genes located in the Y chromosome have all been associated with sports performance. It is not possible to link physical performance to a single genetic polymorphism. Genes that have been most extensively studied in their relation to performance include ACE, ACTN3, ADRA2A, ADRB2, PPARA, PPARGC1A, AMPD1, HIF1A, NOS3, BDKRB2, VEGFR2 and VEGFA. For the time being, genetic screening tests may be useful in determining the weaknesses and strengths of a sportsperson, but not in predicting athletic success.

  8. Human genetics and sleep behavior.

    Science.gov (United States)

    Shi, Guangsen; Wu, David; Ptáček, Louis J; Fu, Ying-Hui

    2017-06-01

    Why we sleep remains one of the greatest mysteries in science. In the past few years, great advances have been made to better understand this phenomenon. Human genetics has contributed significantly to this movement, as many features of sleep have been found to be heritable. Discoveries about these genetic variations that affect human sleep will aid us in understanding the underlying mechanism of sleep. Here we summarize recent discoveries about the genetic variations affecting the timing of sleep, duration of sleep and EEG patterns. To conclude, we also discuss some of the sleep-related neurological disorders such as Autism Spectrum Disorder (ASD) and Alzheimer's Disease (AD) and the potential challenges and future directions of human genetics in sleep research. Copyright © 2017 Elsevier Ltd. All rights reserved.

  9. Genetic susceptibility to Grave's disease.

    Science.gov (United States)

    Li, Hong; Chen, Qiuying

    2013-06-01

    The variety of clinical presentations of eye changes in patients with Graves' disease (GD) suggests that complex interactions between genetic, environmental, endogenous and local factors influence the severity of Graves' ophthalmopathy (GO). It is thought that the development of GO might be influenced by genetic factors and environmental factors, such as cigarette smoking. At present, however, the role of genetic factors in the development of GO is not known. On the basis of studies with candidate genes and other genetic approaches, several susceptibility loci in GO have been proposed, including immunological genes, human leukocyte antigen (HLA), cytotoxic T-lymphocyte antigen-4 (CTLA-4), regulatory T-cell genes and thyroid-specific genes. This review gives a brief overview of the current range of major susceptibility genes found for GD.

  10. Attitudes towards genetic testing: analysis of contradictions

    DEFF Research Database (Denmark)

    Jallinoja, P; Hakonen, A; Aro, A R

    1998-01-01

    A survey study was conducted among 1169 people to evaluate attitudes towards genetic testing in Finland. Here we present an analysis of the contradictions detected in people's attitudes towards genetic testing. This analysis focuses on the approval of genetic testing as an individual choice and o...... studies on attitudes towards genetic testing as well as in the health care context, e.g. in genetic counselling.......A survey study was conducted among 1169 people to evaluate attitudes towards genetic testing in Finland. Here we present an analysis of the contradictions detected in people's attitudes towards genetic testing. This analysis focuses on the approval of genetic testing as an individual choice...... and on the confidence in control of the process of genetic testing and its implications. Our analysis indicated that some of the respondents have contradictory attitudes towards genetic testing. It is proposed that contradictory attitudes towards genetic testing should be given greater significance both in scientific...

  11. Global issues of genetic diversity.

    Science.gov (United States)

    Vida, G

    1994-01-01

    Genetic diversity within species is highly significant during their adaptation to environmental changes and, consequently, for their long-term survival. The genetic variability of species is also the basis for the evolution of higher levels of biodiversity, the evolution of species, and it might be an indispensible prerequisite for the functioning of our biosphere. Studies which promote understanding of the maintenance and the functional aspects of biodiversity at any level are therefore essential for the future welfare of mankind.

  12. Genetic influence on prolonged gestation

    DEFF Research Database (Denmark)

    Laursen, Maja; Bille, Camilla; Olesen, Annette Wind

    2004-01-01

    OBJECTIVE: The purpose of this study was to test a possible genetic component to prolonged gestation. STUDY DESIGN: The gestational duration of single, first pregnancies by both female and male twins was obtained by linking the Danish Twin Registry, The Danish Civil Registration System, and the D...... factors. CONCLUSION: Maternal genes influence prolonged gestation. However, a substantial paternal genetic influence through the fetus was not found....

  13. Genetic epidemiology of Scheuermann's disease

    DEFF Research Database (Denmark)

    Damborg, Frank; Engell, Vilhelm; Nielsen, Jan

    2011-01-01

    The genetic/environmental etiology of Scheuermann's disease is unclear. We estimated the heritability of the disease using an etiological model adjusted for sex and time of diagnosis, and examined whether the prevalence of Scheuermann's disease was constant over time.......The genetic/environmental etiology of Scheuermann's disease is unclear. We estimated the heritability of the disease using an etiological model adjusted for sex and time of diagnosis, and examined whether the prevalence of Scheuermann's disease was constant over time....

  14. How Sensitive Is Genetic Data?

    Science.gov (United States)

    Sariyar, Murat; Suhr, Stephanie; Schlünder, Irene

    2017-12-01

    The rising demand to use genetic data for research goes hand in hand with an increased awareness of privacy issues related to its use. Using human genetic data in a legally compliant way requires an examination of the legal basis as well as an assessment of potential disclosure risks. Focusing on the relevant legal framework in the European Union, we discuss open questions and uncertainties around the handling of genetic data in research, which can result in the introduction of unnecessary hurdles for data sharing. First, we discuss defining features and relative disclosure risks of some DNA-related biomarkers, distinguishing between the risk for disclosure of (1) the identity of an individual, (2) information about an individual's health and behavior, including previously unknown phenotypes, and (3) information about an individual's blood relatives. Second, we discuss the European legal framework applicable to the use of DNA-related biomarkers in research, the implications of including both inherited and acquired traits in the legal definition, as well as the issue of "genetic exceptionalism"-the notion that genetic information has inherent characteristics that require different considerations than other health and medical information. Finally, by mapping the legal to specific technical definitions, we draw some initial conclusions concerning how sensitive different types of "genetic data" may actually be. We argue that whole genome sequences may justifiably be considered "exceptional" and require special protection, whereas other genetic data that do not fulfill the same criteria should be treated in a similar manner to other clinical data. This kind of differentiation should be reflected by the law and/or other governance frameworks as well as agreed Codes of Conduct when using the term "genetic data."

  15. Genetic divergence of tomato subsamples

    Directory of Open Access Journals (Sweden)

    André Pugnal Mattedi

    2014-02-01

    Full Text Available Understanding the genetic variability of a species is crucial for the progress of a genetic breeding program and requires characterization and evaluation of germplasm. This study aimed to characterize and evaluate 101 tomato subsamples of the Salad group (fresh market and two commercial controls, one of the Salad group (cv. Fanny and another of the Santa Cruz group (cv. Santa Clara. Four experiments were conducted in a randomized block design with three replications and five plants per plot. The joint analysis of variance was performed and characteristics with significant complex interaction between control and experiment were excluded. Subsequently, the multicollinearity diagnostic test was carried out and characteristics that contributed to severe multicollinearity were excluded. The relative importance of each characteristics for genetic divergence was calculated by the Singh's method (Singh, 1981, and the less important ones were excluded according to Garcia (1998. Results showed large genetic divergence among the subsamples for morphological, agronomic and organoleptic characteristics, indicating potential for genetic improvement. The characteristics total soluble solids, mean number of good fruits per plant, endocarp thickness, mean mass of marketable fruit per plant, total acidity, mean number of unmarketable fruit per plant, internode diameter, internode length, main stem thickness and leaf width contributed little to the genetic divergence between the subsamples and may be excluded in future studies.

  16. Genetics and epigenetics of obesity.

    Science.gov (United States)

    Herrera, Blanca M; Keildson, Sarah; Lindgren, Cecilia M

    2011-05-01

    Obesity results from interactions between environmental and genetic factors. Despite a relatively high heritability of common, non-syndromic obesity (40-70%), the search for genetic variants contributing to susceptibility has been a challenging task. Genome wide association (GWA) studies have dramatically changed the pace of detection of common genetic susceptibility variants. To date, more than 40 genetic variants have been associated with obesity and fat distribution. However, since these variants do not fully explain the heritability of obesity, other forms of variation, such as epigenetics marks, must be considered. Epigenetic marks, or "imprinting", affect gene expression without actually changing the DNA sequence. Failures in imprinting are known to cause extreme forms of obesity (e.g. Prader-Willi syndrome), but have also been convincingly associated with susceptibility to obesity. Furthermore, environmental exposures during critical developmental periods can affect the profile of epigenetic marks and result in obesity. We review the most recent evidence for genetic and epigenetic mechanisms involved in the susceptibility and development of obesity. Only a comprehensive understanding of the underlying genetic and epigenetic mechanisms, and the metabolic processes they govern, will allow us to manage, and eventually prevent, obesity. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

  17. [Genetics of congenital heart diseases].

    Science.gov (United States)

    Bonnet, Damien

    2017-06-01

    Developmental genetics of congenital heart diseases has evolved from analysis of serial slices in embryos towards molecular genetics of cardiac morphogenesis with a dynamic view of cardiac development. Genetics of congenital heart diseases has also changed from formal genetic analysis of familial recurrences or population-based analysis to screening for mutations in candidates genes identified in animal models. Close cooperation between molecular embryologists, pathologists involved in heart development and pediatric cardiologists is crucial for further increase of knowledge in the field of cardiac morphogenesis and genetics of cardiac defects. The genetic model for congenital heart disease has to be revised to favor a polygenic origin rather than a monogenic one. The main mechanism is altered genic dosage that can account for heart diseases in chromosomal anomalies as well as in point mutations in syndromic and isolated congenital heart diseases. The use of big data grouping information from cardiac development, interactions between genes and proteins, epigenetic factors such as chromatin remodeling or DNA methylation is the current source for improving our knowledge in the field and to give clues for future therapies. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  18. Genetic basis of arrhythmogenic cardiomyopathy.

    Science.gov (United States)

    Karmouch, Jennifer; Protonotarios, Alexandros; Syrris, Petros

    2018-05-01

    To date 16 genes have been associated with arrhythmogenic cardiomyopathy (ACM). Mutations in these genes can lead to a broad spectrum of phenotypic expression ranging from disease affecting predominantly the right or left ventricle, to biventricular subtypes. Understanding the genetic causes of ACM is important in diagnosis and management of the disorder. This review summarizes recent advances in molecular genetics and discusses the application of next-generation sequencing technology in genetic testing in ACM. Use of next-generation sequencing methods has resulted in the identification of novel causative variants and genes for ACM. The involvement of filamin C in ACM demonstrates the genetic overlap between ACM and other types of cardiomyopathy. Putative pathogenic variants have been detected in cadherin 2 gene, a protein involved in cell adhesion. Large genomic rearrangements in desmosome genes have been systematically investigated in a cohort of ACM patients. Recent studies have identified novel causes of ACM providing new insights into the genetic spectrum of the disease and highlighting an overlapping phenotype between ACM and dilated cardiomyopathy. Next-generation sequencing is a useful tool for research and genetic diagnostic screening but interpretation of identified sequence variants requires caution and should be performed in specialized centres.

  19. Genetic Aspects of Alzheimer Disease

    Science.gov (United States)

    Williamson, Jennifer; Goldman, Jill; Marder, Karen S.

    2011-01-01

    Background Alzheimer disease (AD) is a genetically complex disorder. Mutations in 3 genes, presenilin 1, amyloid precursor protein, and presenilin 2, lead to early-onset familial AD in rare families with onset of disease occurring prior to age 65. Specific polymorphisms in apolipoprotein E are associated with the more common, late-onset AD occurring after age 65. In this review, we discuss current advances in AD genetics, the implications of the known AD genes, presenilin 1, presenilin 2, amyloid precursor protein, and apolipoprotein E, and other possible genes on the clinical diagnosis, treatment, and genetic counseling of patients and families with early- and late-onset AD. Review Summary In addition to the mutations in 4 known genes associated with AD, mutations in other genes may be implicated in the pathogenesis of the disease. Most recently, 2 different research groups have reported genetic association between 2 genes, sortilin-related receptor and GAB2, and AD. These associations have not changed the diagnostic and medical management of AD. Conclusions New research in the genetics of AD have implicated novel genes as having a role in the disease, but these findings have not been replicated nor have specific disease causing mutations been identified. To date, clinical genetic testing is limited to familial early-onset disease for symptomatic individuals and asymptomatic relatives and, although not recommended, amyloid precursor protein apolipoprotein E testing as an adjunct to diagnosis of symptomatic individuals. PMID:19276785

  20. The birth and development of the DNA theory of inheritance: sixty ...

    Indian Academy of Sciences (India)

    2014-04-15

    Apr 15, 2014 ... the development and gradual emergence of our knowledge of the nature of the genetic .... observed that the nondisjunction, i.e., lack of segregation in .... of DNA increased during the 1930s, when the English physi- cist and ...

  1. High-copy sequences reveal distinct evolution of the rye B chromosome

    Czech Academy of Sciences Publication Activity Database

    Klemme, S.; Banaei-Moghaddam, A.M.; Macas, Jiří; Wicker, T.; Novák, Petr; Houben, A.

    2013-01-01

    Roč. 199, č. 2 (2013), s. 550-558 ISSN 0028-646X R&D Projects: GA ČR GBP501/12/G090 Institutional support: RVO:60077344 Keywords : satellite DNA * nondisjunction control region * B chromosome * Secale cereale (rye) Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 6.545, year: 2013

  2. Knowledge of Genetics and Attitudes toward Genetic Testing among College Students in Saudi Arabia.

    Science.gov (United States)

    Olwi, Duaa; Merdad, Leena; Ramadan, Eman

    2016-01-01

    Genetic testing has been gradually permeating the practice of medicine. Health-care providers may be confronted with new genetic approaches that require genetically informed decisions which will be influenced by patients' knowledge of genetics and their attitudes toward genetic testing. This study assesses the knowledge of genetics and attitudes toward genetic testing among college students. A cross-sectional study was conducted using a multistage stratified sample of 920 senior college students enrolled at King Abdulaziz University, Saudi Arabia. Information regarding knowledge of genetics, attitudes toward genetic testing, and sociodemographic data were collected using a self-administered questionnaire. In general, students had a good knowledge of genetics but lacked some fundamentals of genetics. The majority of students showed positive attitudes toward genetic testing, but some students showed negative attitudes toward certain aspects of genetic testing such as resorting to abortion in the case of an untreatable major genetic defect in an unborn fetus. The main significant predictors of knowledge were faculty, gender, academic year, and some prior awareness of 'genetic testing'. The main significant predictors of attitudes were gender, academic year, grade point average, and some prior awareness of 'genetic testing'. The knowledge of genetics among college students was higher than has been reported in other studies, and the attitudes toward genetic testing were fairly positive. Genetics educational programs that target youths may improve knowledge of genetics and create a public perception that further supports genetic testing. © 2016 S. Karger AG, Basel.

  3. Genetic coding and gene expression - new Quadruplet genetic coding model

    Science.gov (United States)

    Shankar Singh, Rama

    2012-07-01

    Successful demonstration of human genome project has opened the door not only for developing personalized medicine and cure for genetic diseases, but it may also answer the complex and difficult question of the origin of life. It may lead to making 21st century, a century of Biological Sciences as well. Based on the central dogma of Biology, genetic codons in conjunction with tRNA play a key role in translating the RNA bases forming sequence of amino acids leading to a synthesized protein. This is the most critical step in synthesizing the right protein needed for personalized medicine and curing genetic diseases. So far, only triplet codons involving three bases of RNA, transcribed from DNA bases, have been used. Since this approach has several inconsistencies and limitations, even the promise of personalized medicine has not been realized. The new Quadruplet genetic coding model proposed and developed here involves all four RNA bases which in conjunction with tRNA will synthesize the right protein. The transcription and translation process used will be the same, but the Quadruplet codons will help overcome most of the inconsistencies and limitations of the triplet codes. Details of this new Quadruplet genetic coding model and its subsequent potential applications including relevance to the origin of life will be presented.

  4. Nonmotor symptoms in genetic Parkinson disease

    DEFF Research Database (Denmark)

    Kasten, Meike; Kertelge, Lena; Brüggemann, Norbert

    2010-01-01

    To review current knowledge on nonmotor symptoms (NMS), particularly psychiatric features, in genetic Parkinson disease (PD) and to provide original data for genetic and idiopathic PD.......To review current knowledge on nonmotor symptoms (NMS), particularly psychiatric features, in genetic Parkinson disease (PD) and to provide original data for genetic and idiopathic PD....

  5. Sex Determination, Sex Ratios, and Genetic Conflict

    NARCIS (Netherlands)

    Werren, John H.; Beukeboom, Leo W.

    1998-01-01

    Genetic mechanisms of sex determination are unexpectedly diverse and change rapidly during evolution. We review the role of genetic conflict as the driving force behind this diversity and turnover. Genetic conflict occurs when different components of a genetic system are subject to selection in

  6. Genetic diversity among endangered rare Dalbergia cochinchinensis

    African Journals Online (AJOL)

    hocvan

    Experimental Taxonomy and Genetic Diversity, Vietnam National Museum of Nature, Vietnam Academy for Science and ... Genetic diversity of the 35 genotypes of D. cochinchinensis species were evaluated by ...... Dalbergia genus at the population level of genetic .... Population genetic software for teaching and research.

  7. Genetics and developmental biology of cooperation

    Czech Academy of Sciences Publication Activity Database

    Kasper, C.; Vierbuchen, M.; Ernst, Ulrich R.; Fischer, S.; Radersma, R.; Raulo, A.; Cunha-Saraiva, F.; Wu, M.; Mobley, K. B.; Taborsky, B.

    2017-01-01

    Roč. 26, č. 17 (2017), s. 4364-4377 ISSN 0962-1083 Institutional support: RVO:61388963 Keywords : altruism * behaviour * indirect genetic effects * social behaviour * social effects Subject RIV: EB - Genetics ; Molecular Biology OBOR OECD: Genetics and heredity (medical genetics to be 3) Impact factor: 6.086, year: 2016

  8. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, 1683 Nicosia, Cyprus; Department of Pediatrics, Iasis Hospital, 8036 Paphos, Cyprus; Department of Clinical Genetics, The Cyprus Institute of Neurology and Genetics, 1683 Nicosia, Cyprus; Department of Pediatrics, ...

  9. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    Department of Clinical Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia CY2370, Cyprus; Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia CY2370, Cyprus; Department of Electron Microscopy/Molecular Pathology, The Cyprus Institute of ...

  10. "What is this genetics, anyway?" Understandings of genetics, illness causality and inheritance among British Pakistani users of genetic services.

    Science.gov (United States)

    Shaw, Alison; Hurst, Jane A

    2008-08-01

    Misconceptions about basic genetic concepts and inheritance patterns may be widespread in the general population. This paper investigates understandings of genetics, illness causality and inheritance among British Pakistanis referred to a UK genetics clinic. During participant observation of genetics clinic consultations and semi-structured interviews in Urdu or English in respondents' homes, we identified an array of environmental, behavioral and spiritual understandings of the causes of medical and intellectual problems. Misconceptions about the location of genetic information in the body and of genetic mechanisms of inheritance were common, reflected the range of everyday theories observed for White British patients and included the belief that a child receives more genetic material from the father than the mother. Despite some participants' conversational use of genetic terminology, some patients had assimilated genetic information in ways that conflict with genetic theory with potentially serious clinical consequences. Additionally, skepticism of genetic theories of illness reflected a rejection of a dominant discourse of genetic risk that stigmatizes cousin marriages. Patients referred to genetics clinics may not easily surrender their lay or personal theories about the causes of their own or their child's condition and their understandings of genetic risk. Genetic counselors may need to identify, work with and at times challenge patients' understandings of illness causality and inheritance.

  11. Frequently Asked Questions about Genetic and Genomic Science

    Science.gov (United States)

    ... Genetic and Genomic Science and Research FAQ About Clinical Research FAQ About Genetic Research FAQ About Genetic and Genomic Science See Also: Talking Glossary of Genetic Terms Definitions for the genetic terms used on this page ...

  12. The New Genetics and Natural versus Artificial Genetic Modification

    Directory of Open Access Journals (Sweden)

    Mae-Wan Ho

    2013-11-01

    Full Text Available The original rationale and impetus for artificial genetic modification was the “central dogma” of molecular biology that assumed DNA carries all the instructions for making an organism, which are transmitted via RNA to protein to biological function in linear causal chains. This is contrary to the reality of the “fluid genome” that has emerged since the mid-1970s. In order to survive, the organism needs to engage in natural genetic modification in real time, an exquisitely precise molecular dance of life with RNA and DNA responding to and participating in “downstream” biological functions. Artificial genetic modification, in contrast, is crude, imprecise, and interferes with the natural process. It drives natural systems towards maximum biosemiotic entropy as the perturbations are propagated and amplified through the complex cascades of interactions between subsystems that are essential for health and longevity.

  13. Lack of effect on the chromosomal non-disjunction in aged female mice after low dose x-irradiation

    Energy Technology Data Exchange (ETDEWEB)

    Strausmanis, R; Hendrikson, I B; Holmberg, M; Roennbaeck, C [Research Inst. of National Defence, Sundbyberg (Sweden). Dept. 4

    1978-02-01

    Karyotypes were determined in 1064 embryos of aged C57/BL mothers. The virgin female mice were irradiated with 0, 4, 8 or 16 R of X-rays, respectively, and placed with young untreated males 5 days after irradiation. 10.5-days old embryos were recovered from the uterus. Aneuploid embryos classified as alive (heart beats observed at the dissection) were 1 monosomic in the control group (496 embryos) and 2 trisomics in the irradiated group (568 embryos). The number of aneuploid embryos classified as dead was 4 trisomic cases in the control group and 3 trisomics in the irradiated group. The data indicate that trisomic embryos are not uncommon in the mouse but are eliminated in post-implantation death. In contrast to the results of Yamamoto et al. the present data do not demonstrate an increased frequency of chromosome abnormalities in embryos of aged mice X-irradiated before mating as compared to non-irradiated ones.

  14. Human artificial chromosomes with alpha satellite-based de novo centromeres show increased frequency of nondisjunction and anaphase lag.

    Science.gov (United States)

    Rudd, M Katharine; Mays, Robert W; Schwartz, Stuart; Willard, Huntington F

    2003-11-01

    Human artificial chromosomes have been used to model requirements for human chromosome segregation and to explore the nature of sequences competent for centromere function. Normal human centromeres require specialized chromatin that consists of alpha satellite DNA complexed with epigenetically modified histones and centromere-specific proteins. While several types of alpha satellite DNA have been used to assemble de novo centromeres in artificial chromosome assays, the extent to which they fully recapitulate normal centromere function has not been explored. Here, we have used two kinds of alpha satellite DNA, DXZ1 (from the X chromosome) and D17Z1 (from chromosome 17), to generate human artificial chromosomes. Although artificial chromosomes are mitotically stable over many months in culture, when we examined their segregation in individual cell divisions using an anaphase assay, artificial chromosomes exhibited more segregation errors than natural human chromosomes (P artificial chromosomes missegregate over a fivefold range, the data suggest that variable centromeric DNA content and/or epigenetic assembly can influence the mitotic behavior of artificial chromosomes.

  15. Human Artificial Chromosomes with Alpha Satellite-Based De Novo Centromeres Show Increased Frequency of Nondisjunction and Anaphase Lag

    OpenAIRE

    Rudd, M. Katharine; Mays, Robert W.; Schwartz, Stuart; Willard, Huntington F.

    2003-01-01

    Human artificial chromosomes have been used to model requirements for human chromosome segregation and to explore the nature of sequences competent for centromere function. Normal human centromeres require specialized chromatin that consists of alpha satellite DNA complexed with epigenetically modified histones and centromere-specific proteins. While several types of alpha satellite DNA have been used to assemble de novo centromeres in artificial chromosome assays, the extent to which they fu...

  16. Lack of effect on the chromosomal non-disjunction in aged female mice after low dose x-irradiation

    International Nuclear Information System (INIS)

    Strausmanis, R.; Hendrikson, I.-B.; Holmberg, M.; Roennbaeck, C.

    1978-01-01

    Karyotypes were determined in 1064 embryos of aged C57/BL mothers. The virgin female mice were irradiated with 0, 4, 8 or 16 R of X-rays, respectively, and placed with young untreated males 5 days after irradiation. 10.5-days old embryos were recovered from the uterus. Aneuploid embryos classified as alive (heart beats observed at the dissection) were 1 monosomic in the control group (496 embryos) and 2 trisomics in the irradiated group (568 embryos). The number of aneuploid embryos classified as dead was 4 trisomic cases in the control group and 3 trisomics in the irradiated group. The data indicate that trisomic embryos are not uncommon in the mouse but are eliminated in post-implantation death. In contrast to the results of Yamamoto et al. the present data do not demonstrate an increased frequency of chromosome abnormalities in embryos of aged mice X-irradiated before mating as compared to non-irradiated ones

  17. KEYNOTE ADDRESS: CONSERVATION GENETICS OF FRESHWATER ORGANISMS

    OpenAIRE

    WEISS S.

    2005-01-01

    This manuscript serves as a summary of both the importance of genetics in conservation, and the range of methodological approaches available. Two somewhat distinct realms of conservation genetics are outlined. The first theoretically rests upon the field of population genetics, and primarily concerns itself with the conservation of genetic diversity within and among populations, both in the wild and captivity. Basic concepts such as heterozygosity, genetic drift, and effective population size...

  18. Molecular genetic studies on obligate anaerobic bacteria

    International Nuclear Information System (INIS)

    Woods, D.R.

    1982-01-01

    Molecular genetic studies on obligate anaerobic bacteria have lagged behind similar studies in aerobes. However, the current interest in biotechnology, the involvement of anaerobes in disease and the emergence of antibioticresistant strains have focused attention on the genetics of anaerobes. This article reviews molecular genetic studies in Bacteroides spp., Clostridium spp. and methanogens. Certain genetic systems in some anaerobes differ from those in aerobes and illustrate the genetic diversity among bacteria

  19. The Virtual Genetics Lab II: Improvements to a Freely Available Software Simulation of Genetics

    Science.gov (United States)

    White, Brian T.

    2012-01-01

    The Virtual Genetics Lab II (VGLII) is an improved version of the highly successful genetics simulation software, the Virtual Genetics Lab (VGL). The software allows students to use the techniques of genetic analysis to design crosses and interpret data to solve realistic genetics problems involving a hypothetical diploid insect. This is a brief…

  20. A Tri-Part Model for Genetics Literacy: Exploring Undergraduate Student Reasoning about Authentic Genetics Dilemmas

    Science.gov (United States)

    Shea, Nicole A.; Duncan, Ravit Golan; Stephenson, Celeste

    2015-01-01

    Genetics literacy is becoming increasingly important as advancements in our application of genetic technologies such as stem cell research, cloning, and genetic screening become more prevalent. Very few studies examine how genetics literacy is applied when reasoning about authentic genetic dilemmas. However, there is evidence that situational…

  1. Genetics, health care, and public policy: an introduction to public health genetics

    National Research Council Canada - National Science Library

    Stewart, Alison

    2007-01-01

    ... initiative About this book Further reading and resources Principles of public health The emergence of public health genetics The human genome project and 'genomic medicine' Community genetics Current developments in public health genetics Genomics and global health 2 Genetic science and technology Basic molecular genetics Genes and the geno...

  2. Environmental chemical mutagens and genetic risks: Lessons from radiation genetics

    International Nuclear Information System (INIS)

    Sankaranarayanan, K.

    1996-01-01

    The last three decades have witnessed substantial progress in the development and use of a variety of in vitro and in vivo assay systems for the testing of environmental chemicals which may pose a mutagenic hazard to humans. This is also true of basic studies in chemical mutagenesis on mechanisms, DNA repair, molecular dosimetry, structure-activity relationships, etc. However, the field of quantitative evaluation of genetic risks of environmental chemicals to humans is still in it infancy. This commentary addresses the question of how our experience in estimating genetic risks of exposure to ionizing radiation can be helpful in similar endeavors with environmental chemical mutagens. 24 refs., 3 tabs

  3. Genetics of frontotemporal lobar degeneration

    Directory of Open Access Journals (Sweden)

    Aswathy P

    2010-10-01

    Full Text Available Frontotemporal lobar degeneration (FTLD is a highly heterogenous group of progressive neurodegenerative disorders characterized by atrophy of prefrontal and anterior temporal cortices. Recently, the research in the field of FTLD has gained increased attention due to the clinical, neuropathological, and genetic heterogeneity and has increased our understanding of the disease pathogenesis. FTLD is a genetically complex disorder. It has a strong genetic basis and 50% of patients show a positive family history for FTLD. Linkage studies have revealed seven chromosomal loci and a number of genes including MAPT, PGRN, VCP, and CHMB-2B are associated with the disease. Neuropathologically, FTLD is classified into tauopathies and ubiquitinopathies. The vast majority of FTLD cases are characterized by pathological accumulation of tau or TDP-43 positive inclusions, each as an outcome of mutations in MAPT or PGRN, respectively. Identification of novel proteins involved in the pathophysiology of the disease, such as progranulin and TDP-43, may prove to be excellent biomarkers of disease progression and thereby lead to the development of better therapeutic options through pharmacogenomics. However, much more dissections into the causative pathways are needed to get a full picture of the etiology. Over the past decade, advances in research on the genetics of FTLD have revealed many pathogenic mutations leading to different clinical manifestations of the disease. This review discusses the current concepts and recent advances in our understanding of the genetics of FTLD.

  4. [Genetic factors in myocardial infarction].

    Science.gov (United States)

    Hara, Masahiko; Sakata, Yasuhiko; Sato, Hiroshi

    2013-02-01

    One of the main mechanisms of acute myocardial infarction (AMI) is plaque rupture or erosion followed by intraluminal thrombus formation and occlusion of the coronary arteries. Thus far, many underlying conditions or environmental factors, such as hypertension, diabetes, dyslipidemia, smoking or obesity, as well as a family history of coronary artery diseases have been identified as risks for the onset of AMI. These risks suggest that AMI occurs due to interactions between underlying conditions and multiple genetic susceptibilities. For this reason, many target gene-disease association studies have been performed with the recent introduction of genome-wide association studies (GWAS) that have further revealed new genetic susceptibilities for AMI. GWAS is a way to examine many common genetic variants in different individuals to see if any variant is associated with a trait in a case-control fashion, and typically focuses on associations between single-nucleotide polymorphisms (SNP) and traits. SNP on chromosome 9p21 is one of the robust susceptibility variants for AMI which has been identified by many GWAS. In this review, we overview the methodology of GWAS, introduce genetic variants identified by GWAS as those with susceptibility for AMI, and describe the foresight of using GWAS to investigate genetic susceptibility to AMI.

  5. Genetic basis of atrial fibrillation

    Directory of Open Access Journals (Sweden)

    Oscar Campuzano

    2016-12-01

    Full Text Available Atrial fibrillation is the most common sustained arrhythmia and remains as one of main challenges in current clinical practice. The disease may be induced secondary to other diseases such as hypertension, valvular heart disease, and heart failure, conferring an increased risk of stroke and sudden death. Epidemiological studies have provided evidence that genetic factors play an important role and up to 30% of clinically diagnosed patients may have a family history of atrial fibrillation. To date, several rare variants have been identified in a wide range of genes associated with ionic channels, calcium handling protein, fibrosis, conduction and inflammation. Important advances in clinical, genetic and molecular basis have been performed over the last decade, improving diagnosis and treatment. However, the genetics of atrial fibrillation is complex and pathophysiological data remains still unraveling. A better understanding of the genetic basis will induce accurate risk stratification and personalized clinical treatment. In this review, we have focused on current genetics basis of atrial fibrillation.

  6. Genetic testing for hearing impairment.

    Science.gov (United States)

    Topsakal, V; Van Camp, G; Van de Heyning, P

    2005-01-01

    For some patients, genetic testing can reveal the etiology of their hearing impairment, and can provide evidence for a medical diagnosis. However, a gap between fundamental genetic research on hereditary deafness and clinical otology emerges because of the steadily increasing number of discovered genes for hereditary hearing impairment (HHI) and the comparably low clinical differentiation of the HHIs. In an attempt to keep up with the scientific progress, this article enumerates the indications of genetic testing for HHI from a clinical point of view and describes the most frequently encountered HHIs in Belgium. Domains of recent scientific interest, molecular biological aspects, and some pitfalls with HHIs are highlighted. The overview comprises bilateral congenital hearing loss, late-onset progressive high frequency hearing loss, progressive bilateral cochleo-vestibular deficit, and progressive low frequency hearing loss. Also, several syndromal forms of HHI are summarized, and the availability of genetic tests mentioned. Finally, the requirements for successful linkage analysis, an important genetic research tool for localizing the potential genes of a trait on a chromosome, are briefly described.

  7. Genetic maps and physical units

    International Nuclear Information System (INIS)

    Karunakaran, V.; Holt, G.

    1976-01-01

    The relationships between physical and genetic units are examined. Genetic mapping involves the detection of linkage of genes and the measurement of recombination frequencies. The genetic distance is measured in map units and is proportional to the recombination frequencies between linked markers. Physical mapping of genophores, particularly the simple genomes of bacteriophages and bacterial plasmids can be achieved through heteroduplex analysis. Genetic distances are dependent on recombination frequencies and, therefore, can only be correlated accurately with physical unit lengths if the recombination frequency is constant throughout the entire genome. Methods are available to calculate the equivalent length of DNA per average map unit in different organisms. Such estimates indicate significant differences from one organism to another. Gene lengths can also be calculated from the number of amino acids in a specified polypeptide and relating this to the number of nucleotides required to code for such a polypeptide. Many attempts have been made to relate microdosimetric measurements to radiobiological data. For irradiation effects involving deletion of genetic material such a detailed correlation may be possible in systems where heteroduplex analysis or amino acid sequencing can be performed. The problems of DNA packaging and other functional associations within the cell in interpreting data is discussed

  8. Global change and genetic diversity

    International Nuclear Information System (INIS)

    Kremer, Antoine

    2000-01-01

    Are there grounds for concern as to the impact of global change on the future of European forests? This question is approached from the genetic angle, considering the modifications produced by climate change on the diversity and adaptive potential of forest species. In the absence of experimental data, the answers are derived from a set of arguments based on knowledge of evolutionary mechanisms involved in genetic diversity, the post-glacial history of European forests and lessons drawn from recent introductions of foreign wood species. These arguments entail less pessimistic conclusions than those generally reached for consequences attributed to global change. Even if major changes in composition could occur, past events show that genetic erosion capable of challenging the adaptive potential of species is unlikely. (author)

  9. How to measure genetic heterogeneity

    International Nuclear Information System (INIS)

    Yamada, Ryo

    2009-01-01

    Genetic information of organisms is coded as a string of four letters, A, T, G and C, a sequence in macromolecules called deoxyribonucleic acid (DNA). DNA sequence offers blueprint of organisms and its heterogeneity determines identity and variation of species. The quantitation of this genetic heterogeneity is fundamental to understand biology. We compared previously-reported three measures, covariance matrix expression of list of loci (pair-wise r 2 ), the most popular index in genetics, and its multi-dimensional form, Ψ, and entropy-based index, ε. Thereafter we proposed two methods so that we could handle the diplotypic heterogeneity and quantitate the conditions where the number of DNA sequence samples is much smaller than the number of possible variants.

  10. Conventional radiology and genetic dose

    International Nuclear Information System (INIS)

    Gonzalez-Vila, V.; Fernandez, A.; Rivera, F.; Martinez, M.; Gomez, A.; Luis, J.

    1992-01-01

    A research project was established in 1984 to evaluate the expected genetic abnormalities due to radiation received by the population attending the Outpatient Radiological Service due to medical radiological practices. The study was conducted in 1985 (12 weeks chosen by random). The equivalent gonadal dose was the chosen parameter, representing the social cost of the radiology. Samples of 2945 men and 2929 women were considered in the study. The number of genetic abnormalities, in relation to the mean age of reproduction (a generation every 30 years), was 2.13 cases per million in the first generation and 15.97 cases per million at equilibrium. The authors interpretation is that both the method and the expected genetic detriment are suitable procedures for the characterisation of the Radiological Service as a radiation source. (author)

  11. [Genetic diagnostics of cancer diseases].

    Science.gov (United States)

    Cobilanschi, Joana

    2013-11-27

    Cancer is caused by genetic alterations, but only 10% of the cancer diseases are inherited. The probability for an individual or a family of having inherited cancer, individual consequences of the respective results of genetic testing, as well as its costs and reimbursement by the health insurance must be addressed by expert genetic counseling which at-risk requires special expertise. Identification of a germline mutation which may predispose to a variety of different cancer types allows determination of an individual's specific life time risk in symptomatic as well as in a-symptomatic family members. Identification of the underlying defective gene in heritable cancer disorders also enables optimized preventive and novel therapeutic approaches specifically targeting the underlying molecular pathomechanisms.

  12. GENETICS ASPECTS OF DIABETIC NEPHROPATHY

    Directory of Open Access Journals (Sweden)

    Oana-Elena Sauca

    2010-09-01

    Full Text Available Diabetic nephropathy is a clinical syndrome characterized by persistent albuminuria, a relentless decline in GFR, raised arterial blood pressure, and increased relative mortality for cardiovascular diseases. The pathogenesis of diabetic nephropathy is multifactorial, with contributions from metabolic abnormalities, hemodynamic alteration, and various growth and genetic factors. The identification of the main genes would allow the detection of those individuals at high risk for diabetic nephropathy and better understanding of its pathophysiologyas well.The present review discusses the main information available in literature regarding some genetic variants (involved in the renin-angiotensin system, glucose and lipid metabolism and some cytoskeleton proteins that reaffirms the importance of genetic factors in diabetic nephropathy.

  13. Genetic determinants of common epilepsies

    DEFF Research Database (Denmark)

    2014-01-01

    and insufficient power. We aimed to identify risk loci through meta-analyses of genome-wide association studies for all epilepsy and the two largest clinical subtypes (genetic generalised epilepsy and focal epilepsy). METHODS: We combined genome-wide association data from 12 cohorts of individuals with epilepsy...... not previously implicated in epilepsy and provides further evidence about the genetic architecture of these disorders, with the ultimate aim of assisting in disease classification and prognosis. The data suggest that specific loci can act pleiotropically raising risk for epilepsy broadly, or can have effects...... and controls from population-based datasets. Controls were ethnically matched with cases. We phenotyped individuals with epilepsy into categories of genetic generalised epilepsy, focal epilepsy, or unclassified epilepsy. After standardised filtering for quality control and imputation to account for different...

  14. Genetic influences on political ideologies

    DEFF Research Database (Denmark)

    Hatemi, Peter K; Medland, Sarah E; Klemmensen, Robert

    2014-01-01

    Almost 40 years ago, evidence from large studies of adult twins and their relatives suggested that between 30 and 60 % of the variance in social and political attitudes could be explained by genetic influences. However, these findings have not been widely accepted or incorporated into the dominant...... paradigms that explain the etiology of political ideology. This has been attributed in part to measurement and sample limitations, as well the relative absence of molecular genetic studies. Here we present results from original analyses of a combined sample of over 12,000 twins pairs, ascertained from nine...... different studies conducted in five democracies, sampled over the course of four decades. We provide evidence that genetic factors play a role in the formation of political ideology, regardless of how ideology is measured, the era, or the population sampled. The only exception is a question that explicitly...

  15. Genetic Engineering Workshop Report, 2010

    Energy Technology Data Exchange (ETDEWEB)

    Allen, J; Slezak, T

    2010-11-03

    The Lawrence Livermore National Laboratory (LLNL) Bioinformatics group has recently taken on a role in DTRA's Transformation Medical Technologies (TMT) program. The high-level goal of TMT is to accelerate the development of broad-spectrum countermeasures. To achieve this goal, there is a need to assess the genetic engineering (GE) approaches, potential application as well as detection and mitigation strategies. LLNL was tasked to coordinate a workshop to determine the scope of investments that DTRA should make to stay current with the rapid advances in genetic engineering technologies, so that accidental or malicious uses of GE technologies could be adequately detected and characterized. Attachment A is an earlier report produced by LLNL for TMT that provides some relevant background on Genetic Engineering detection. A workshop was held on September 23-24, 2010 in Springfield, Virginia. It was attended by a total of 55 people (see Attachment B). Twenty four (44%) of the attendees were academic researchers involved in GE or bioinformatics technology, 6 (11%) were from DTRA or the TMT program management, 7 (13%) were current TMT performers (including Jonathan Allen and Tom Slezak of LLNL who hosted the workshop), 11 (20%) were from other Federal agencies, and 7 (13%) were from industries that are involved in genetic engineering. Several attendees could be placed in multiple categories. There were 26 attendees (47%) who were from out of the DC area and received travel assistance through Invitational Travel Orders (ITOs). We note that this workshop could not have been as successful without the ability to invite experts from outside of the Beltway region. This workshop was an unclassified discussion of the science behind current genetic engineering capabilities. US citizenship was not required for attendance. While this may have limited some discussions concerning risk, we felt that it was more important for this first workshop to focus on the scientific state of

  16. Identical twins in forensic genetics

    DEFF Research Database (Denmark)

    Tvedebrink, Torben; Morling, Niels

    2015-01-01

    The increase in the number of forensic genetic loci used for identification purposes results in infinitesimal random match probabilities. These probabilities are computed under assumptions made for rather simple population genetic models. Often, the forensic expert reports likelihood ratios, where...... published results accounting for close familial relationships. However, we revisit the discussion to increase the awareness among forensic genetic practitioners and include new information on medical and societal factors to assess the risk of not considering a monozygotic twin as the true perpetrator......, then data relevant for the Danish society suggests that the threshold of likelihood ratios should approximately be between 150,000 and 2,000,000 in order to take the risk of an unrecognised identical, monozygotic twin into consideration. In other societies, the threshold of the likelihood ratio in crime...

  17. Genetic variation in dieback resistance

    DEFF Research Database (Denmark)

    Lobo, Albin; Hansen, Jon Kehlet; McKinney, Lea Vig

    2014-01-01

    -eastern Zealand, Denmark, and confirmed the presence of substantial genetic variation in ash dieback susceptibility. The average crown damage increased in the trial from 61% in 2009 to 66% in 2012 and 72% in 2014, while the estimated heritability was 0.42 in both 2009 and 2012 but increased to 0.53 in 2014....... Genetic correlation between assessments was 0.88 between 2009 and 2012 and 0.91 between 2009 and 2014, suggesting fairly good possibilities for early selection of superior genotypes in the presence of high infection levels in the trial. The level of crown damage had strong negative effect on growth...

  18. Marburg Virus Reverse Genetics Systems

    Directory of Open Access Journals (Sweden)

    Kristina Maria Schmidt

    2016-06-01

    Full Text Available The highly pathogenic Marburg virus (MARV is a member of the Filoviridae family and belongs to the group of nonsegmented negative-strand RNA viruses. Reverse genetics systems established for MARV have been used to study various aspects of the viral replication cycle, analyze host responses, image viral infection, and screen for antivirals. This article provides an overview of the currently established MARV reverse genetic systems based on minigenomes, infectious virus-like particles and full-length clones, and the research that has been conducted using these systems.

  19. Atom bombs and genetic damage

    International Nuclear Information System (INIS)

    Berry, R.J.

    1982-01-01

    Comments are made on a 1981 review on genetic damage in the off-spring of the atom bomb survivors in Hiroshima and Nagasaki. The main criticisms of the review concerned, 1) the 'minimal' doubling dose value for radiation-induced mutation in man, 2) the gametic doubling dose value for sex chromosome aneuploidy and 3) the validity of trebling an observed acute doubling dose to measure the effect of chronic irradiation. The firmest conclusion which may be deduced from the studies on A-bomb survivors is that humans are fairly resistant to genetic damage from radiation. (U.K.)

  20. Agricultural genetics goes to court.

    Science.gov (United States)

    Fox, Jeffrey L; Norman, Colin

    1983-09-30

    A coalition of environmental groups headed by activist Jeremy Rifkin has filed lawsuits to halt experiments that would release genetically engineered organisms into the environment. One suit, filed against the National Institutes of Health on 14 September 1983, would block tests by researchers at the University of California, Berkeley. A second suit, filed 16 September 1983 against Cetus Madison and BioTechnica, seeks to halt field tests that had been approved by NIH's Recombinant DNA Advisory Committee. At issue are NIH's role in evaluating the risks of genetic experimentation, and the public's right of access to proprietary information.

  1. Proinflammatory Status, Genetics and Atherosclerosis

    Czech Academy of Sciences Publication Activity Database

    Poledne, R.; Lorenzová, A.; Stávek, P.; Valenta, Zdeněk; Hubáček, J.; Suchánek, R.; Piťha, J.

    2009-01-01

    Roč. 58, Suppl. 2 (2009), S111-S118 ISSN 0862-8408 R&D Projects: GA MŠk(CZ) 1M06014 Grant - others:GA MŠk(CZ) 1M0510 Program:1M Institutional research plan: CEZ:AV0Z10300504 Keywords : atherosclerosis * inflammation * C-reactive protein * genetics Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 1.430, year: 2009 http://www.biomed.cas.cz/physiolres/pdf/58%20Suppl%202/58_S111.pdf

  2. Metabolomics of Genetically Modified Crops

    Directory of Open Access Journals (Sweden)

    Carolina Simó

    2014-10-01

    Full Text Available Metabolomic-based approaches are increasingly applied to analyse genetically modified organisms (GMOs making it possible to obtain broader and deeper information on the composition of GMOs compared to that obtained from traditional analytical approaches. The combination in metabolomics of advanced analytical methods and bioinformatics tools provides wide chemical compositional data that contributes to corroborate (or not the substantial equivalence and occurrence of unintended changes resulting from genetic transformation. This review provides insight into recent progress in metabolomics studies on transgenic crops focusing mainly in papers published in the last decade.

  3. Metabolomics of Genetically Modified Crops

    Science.gov (United States)

    Simó, Carolina; Ibáñez, Clara; Valdés, Alberto; Cifuentes, Alejandro; García-Cañas, Virginia

    2014-01-01

    Metabolomic-based approaches are increasingly applied to analyse genetically modified organisms (GMOs) making it possible to obtain broader and deeper information on the composition of GMOs compared to that obtained from traditional analytical approaches. The combination in metabolomics of advanced analytical methods and bioinformatics tools provides wide chemical compositional data that contributes to corroborate (or not) the substantial equivalence and occurrence of unintended changes resulting from genetic transformation. This review provides insight into recent progress in metabolomics studies on transgenic crops focusing mainly in papers published in the last decade. PMID:25334064

  4. Technological Innovations in Forensic Genetics

    DEFF Research Database (Denmark)

    Wienroth, Matthias; Morling, Niels; Williams, Robin

    2014-01-01

    This paper discusses the nature of four waves of technological innovations in forensic genetics alongside the social, legal and ethical aspect of these innovations. It emphasises the way in which technological advances and their socio-legal frameworks are co-produced, shaping technology...... expectations, social identities, and legal institutions. It also considers how imagined and actual uses of forensic genetic technologies are entangled with assertions about social order, affirmations of common values and civil rights, and promises about security and justice. Our comments seek to encourage...

  5. Genetic variability, heritability and genetic advance of quantitative ...

    African Journals Online (AJOL)

    Genetic variation has led to an increase in the quantitative traits of crops. The variability on genome is induced by mutation, which enhances the productivity. We evaluated variability on quantitative characters such as, plant height, number of branches/plant, number of leaves/plant, number of fruit clusters/plant, number of ...

  6. Genetic engineering versus natural evolution: Genetic algorithms with deterministic operators

    NARCIS (Netherlands)

    Jozwiak, L.; Postula, A.

    2002-01-01

    Genetic algorithms (GA) have several important features that predestine them to solve design problems. Their main disadvantage however is the excessively long run-time that is needed to deliver satisfactory results for large instances of complex design problems. The main aims of this paper are (1)

  7. Familial clustering and genetic risk for dementia in a genetically isolated Dutch population.

    NARCIS (Netherlands)

    K. Sleegers (Kristel); F. Forey; J. Theuns (Jessie); Y.S. Aulchenko (Yurii); S. Rademakers (Suzanne); M. Cruts (Marc); W.A. van Gool (Willem); P. Heutink (Peter); B.A. Oostra (Ben); J.C. van Swieten (John); C.M. van Duijn (Cornelia); C. van Broeckhoven (Christine)

    2004-01-01

    textabstractDespite advances in elucidating the genetic epidemiology of Alzheimer's disease and frontotemporal dementia, the aetiology for most patients with dementia remains unclear. We examined the genetic epidemiology of dementia in a recent genetically isolated Dutch population founded around

  8. Familial clustering and genetic risk for dementia in a genetically isolated Dutch population

    NARCIS (Netherlands)

    Sleegers, K.; Roks, G.; Theuns, J.; Aulchenko, Y. S.; Rademakers, R.; Cruts, M.; van Gool, W. A.; van Broeckhoven, C.; Heutink, P.; Oostra, B. A.; van Swieten, J. C.; van Duijn, C. M.

    2004-01-01

    Despite advances in elucidating the genetic epidemiology of Alzheimer's disease and frontotemporal dementia, the aetiology for most patients with dementia remains unclear. We examined the genetic epidemiology of dementia in a recent genetically isolated Dutch population founded around 1750. The

  9. Genetic data for groundfish - Genetics and genomics of northeastern Pacific groundfish

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — Conduct genetic analyses of groundfish in the northeastern Pacific, with a focus on population genetics and genomics of rockfishes and sablefish. Genetic data for...

  10. Provision of genetics services on Guam.

    Science.gov (United States)

    McWalter, Kirsty; Hasegawa, Lianne; Au, Sylvia Mann

    2013-12-01

    Guam's geographic isolation and lack of community resources have resulted in unique healthcare needs. In 2006, the Western States Genetic Services Collaborative (WSGSC) conducted a genetics needs assessment and found that professional development is limited, families lack access to genetic services, and improved coverage of genetic testing is needed. With funding from the WSGSC, a Guam genetics outreach clinic was established and staffed by genetic counselors and a medical geneticist from Hawaii. Four clinics have been held to date. Although several challenges have been encountered, including minimal coverage of genetic testing by Guam insurance companies, limited referrals for families with private insurance, and inappropriate referral indications, the outreach clinic has been successful at increasing access to genetic services and improving professional development. With more collaborative work by staff from Guam, Hawaii, and the WSGSC, provision and reimbursement of genetic services and testing will continue to improve.

  11. Education and certification of genetic counselors.

    Science.gov (United States)

    Katsichti, L; Hadzipetros-Bardanis, M; Bartsocas, C S

    1999-01-01

    Genetic counseling is defined by the American Society of Human Genetics as a communication process which deals with the human problems associated with the occurrence, or risk of occurrence, of a genetic disorder in a family. The first graduate program (Master's degree) in genetic counseling started in 1969 at Sarah Lawrence College, NY, USA, while in 1979 the National Society of Genetic Counseling (NSGC) was established. Today, there are 29 programs in U.S.A. offering a Master's degree in Genetic Counseling, five programs in Canada, one in Mexico, one in England and one in S. Africa. Most of these graduate programs offer two year training, consisting of graduate courses, seminars, research and practical training. Emphasis is given in human physiology, biochemistry, clinical genetics, cytogenetics, molecular and biochemical genetics, population genetics and statistics, prenatal diagnosis, teratology and genetic counseling in relation to psychosocial and ethical issues. Certification for eligible candidates is available through the American Board of Medical Genetics (ABMG). Requirements for certification include a master's degree in human genetics, training at sites accredited by the ABMG, documentation of genetic counseling experience, evidence of continuing education and successful completion of a comprehensive ABMG certification examination. As professionals, genetic counselors should maintain expertise, should insure mechanisms for professional advancement and should always maintain the ability to approach their patients.

  12. Genetic effects of ionising radiation in man

    International Nuclear Information System (INIS)

    Sankaranarayanan, K.

    1991-01-01

    A review is given of genetic risk estimation in man. Topics covered include the methods used, the germ cell stages and radiation conditions relevant for genetic risk estimation, doubling dose estimates, the classification and prevalence of naturally-occurring genetic disorders, the source of data used in the direct method of risk estimation, the genetic risk estimates from the mid-1970s to the present, the estimates of genetic risk used in ICRP 26 in 1977 and ICRP's current assessment of genetic risks. (UK)

  13. Strategies for MCMC computation in quantitative genetics

    DEFF Research Database (Denmark)

    Waagepetersen, Rasmus; Ibanez, Noelia; Sorensen, Daniel

    2006-01-01

    Given observations of a trait and a pedigree for a group of animals, the basic model in quantitative genetics is a linear mixed model with genetic random effects. The correlation matrix of the genetic random effects is determined by the pedigree and is typically very highdimensional but with a sp......Given observations of a trait and a pedigree for a group of animals, the basic model in quantitative genetics is a linear mixed model with genetic random effects. The correlation matrix of the genetic random effects is determined by the pedigree and is typically very highdimensional...

  14. Genetic variations in multiple myeloma I

    DEFF Research Database (Denmark)

    Vangsted, A.; Klausen, T.W.; Vogel, Ulla Birgitte

    2012-01-01

    Few risk factors have been established for the plasma cell disorder multiple myeloma, but some of these like African American ethnicity and a family history of B-cell lymphoproliferative diseases suggest a genetic component for the disease. Genetic variation represents the genetic basis of variab......Few risk factors have been established for the plasma cell disorder multiple myeloma, but some of these like African American ethnicity and a family history of B-cell lymphoproliferative diseases suggest a genetic component for the disease. Genetic variation represents the genetic basis...

  15. Problem solving with genetic algorithms and Splicer

    Science.gov (United States)

    Bayer, Steven E.; Wang, Lui

    1991-01-01

    Genetic algorithms are highly parallel, adaptive search procedures (i.e., problem-solving methods) loosely based on the processes of population genetics and Darwinian survival of the fittest. Genetic algorithms have proven useful in domains where other optimization techniques perform poorly. The main purpose of the paper is to discuss a NASA-sponsored software development project to develop a general-purpose tool for using genetic algorithms. The tool, called Splicer, can be used to solve a wide variety of optimization problems and is currently available from NASA and COSMIC. This discussion is preceded by an introduction to basic genetic algorithm concepts and a discussion of genetic algorithm applications.

  16. Methodological issues of genetic association studies.

    Science.gov (United States)

    Simundic, Ana-Maria

    2010-12-01

    Genetic association studies explore the association between genetic polymorphisms and a certain trait, disease or predisposition to disease. It has long been acknowledged that many genetic association studies fail to replicate their initial positive findings. This raises concern about the methodological quality of these reports. Case-control genetic association studies often suffer from various methodological flaws in study design and data analysis, and are often reported poorly. Flawed methodology and poor reporting leads to distorted results and incorrect conclusions. Many journals have adopted guidelines for reporting genetic association studies. In this review, some major methodological determinants of genetic association studies will be discussed.

  17. Population genetics of African ungulates

    DEFF Research Database (Denmark)

    Lorenzen, Eline

    -specific data sets, which are used to elucidate evolutionary processes of importance to the savannah ungulate community. Patterns of DNA variation were analyzed to assess the genetic signatures of Pleistocene refugia and investigate aspects of speciation, intraspecific structuring, hybridization, and historic...

  18. Rendezvous maneuvers using Genetic Algorithm

    International Nuclear Information System (INIS)

    Dos Santos, Denílson Paulo Souza; De Almeida Prado, Antônio F Bertachini; Teodoro, Anderson Rodrigo Barretto

    2013-01-01

    The present paper has the goal of studying orbital maneuvers of Rendezvous, that is an orbital transfer where a spacecraft has to change its orbit to meet with another spacecraft that is travelling in another orbit. This transfer will be accomplished by using a multi-impulsive control. A genetic algorithm is used to find the transfers that have minimum fuel consumption

  19. Property and Human Genetic Information

    DEFF Research Database (Denmark)

    Nielsen, Morten Ebbe Juul; Kongsholm, Nana Cecilie Halmsted; Schovsbo, Jens Hemmingsen

    2018-01-01

    Do donors (of samples from which genetic information is derived) have some sort of pre-legal (moral) or legal property right tothat information? In this paper, we address this question from both a moral philosophical and a legal point of view. We argue thatphilosophical theories about property do...

  20. Genetics Home Reference: Schindler disease

    Science.gov (United States)

    ... childhood, with some features of autism spectrum disorders. Autism spectrum disorders are characterized by impaired communication and socialization skills. Related Information What does it mean if a disorder seems to run in my family? What is the prognosis of a genetic condition? ...

  1. Genetic Counseling in Military Hospitals

    Science.gov (United States)

    1987-04-01

    mother allegedly mistreated for preeclampsia at Tripler Army Medical Center could maintain an action for medical malpractice nothwithstanding Feres.1 2...retardation of unknown etiology in a child; - pregnancy in a woman older than age 35; - specific ethnic background suggestive of a high rate of genetic

  2. Genetics Home Reference: arginase deficiency

    Science.gov (United States)

    ... belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions ... links) Baby's First Test GeneReview: Arginase Deficiency GeneReview: Urea Cycle Disorders Overview MedlinePlus Encyclopedia: Hereditary urea cycle abnormality National ...

  3. Genetics Home Reference: Lynch syndrome

    Science.gov (United States)

    ... Genetic Changes Variations in the MLH1 , MSH2 , MSH6 , PMS2 , or EPCAM gene increase the risk of developing Lynch syndrome . The MLH1 , MSH2 , MSH6 , and PMS2 genes are involved in the repair of errors ...

  4. Genetic technology and agricultural development.

    Science.gov (United States)

    Staub, W J; Blase, M G

    1971-07-09

    The genetic technologies being adopted in South Asia are significant factors in the agricultural development of the area. But, labeling them " miracle seeds," solely responsible for recent agricultural growth, is misleading. Certainly the introduction of new genetic technology has catalyzed South Asian agriculture and has instilled a new dynamism essential to economic development. Somewhat similar phenomena have, however, been observed in other parts of the world in other periods of history. The nature of these genetic technologies, how they are being applied, and their limits and potential have been explored above. Also, the effects of these varieties on the generation of employment, and the distribution of benefits accruing from them have been examined in preliminary fashion. Stemming from the preceding discussion, two areas of priority appear obvious. First, the close association of genetic technologies with irrigation suggests that irrigation should receive more attention than it has in the past. Large-scale public irrigation schemes are expensive and have tended to yield low rates of return. However, there appears to be room for marginal increases in, or improvements of, existing irrigation facilities. Second, even with a rapid spread of the practices associated with highyeild varieties, it may be too much to expect the farm sector to absorb the expected increases in the rural labor force. The generation of employment is a major problem in India as well as in most other developing countries. Hence, possibilities for expanding rural, nonfarm employment and controlling population growth should be sought vigorously.

  5. Innovation in Livestock Genetic Improvement

    NARCIS (Netherlands)

    Mofakkarul Islam, M.; Renwick, A.; Lamprinopoulou, C.; Klerkx, L.W.A.

    2013-01-01

    The application of genetic selection technologies in livestock breeding offers unique opportunities to enhance the productivity, profitability and competitiveness of the livestock industry. However, there is a concern that the uptake of these technologies has been slower in the sheep and beef

  6. Genetic determinants of eating disorders

    NARCIS (Netherlands)

    Slof-Op 't Landt, Margarita Cornelia Theodora

    2011-01-01

    In this thesis, a series of studies on different aspects of the genetics of eating disorders is presented. The heritability of disordered eating behavior and attitudes in relation with body mass index (BMI) was evaluated in a large adolescent twin-family sample ascertained through the Netherlands

  7. Genetics Home Reference: Gorlin syndrome

    Science.gov (United States)

    ... for This Condition basal cell nevus syndrome BCNS Gorlin-Goltz syndrome NBCCS nevoid basal cell carcinoma syndrome Related Information ... named? Additional Information & Resources MedlinePlus (2 links) Encyclopedia: Basal Cell Nevus Syndrome Health Topic: Skin Cancer Genetic and Rare Diseases ...

  8. Population Genetics of Phytophthora infestans

    DEFF Research Database (Denmark)

    Montes, Melanie Sarah

    a high diversity of lineages, with different strains appearing from field to field. Different strains were also tested for their resistance to the fungicide metalaxyl, and it was shown that there is potential for linking genetic markers to resistance. In a pilot study it was then tested whether P...

  9. Radiation genetics. Status and prospects

    International Nuclear Information System (INIS)

    Svyatova, G.S.; Abil'dinova, G.Zh.; Berezina, G.M.

    1997-01-01

    In Republic of Kazakhstan on the base of Republican Scientific and Research Center for Mother and Child Health Protection the comprehensive medical-genetical testing of rural population living in immediate proximity from Semipalatinsk test site is carried out. Besides of general medical-genetic characteristics of examined population the frequency and structure of congenital diseases of newborns from 1970 to 1995 were determined. 67.5 thousand parturitions outcomes in researched area and 21.5 thousand ones in control district (Akmola region) are studied. Both the frequency and the structure of chromosomal aberration of population living on contaminated by radionuclides territories is researched as well. Perspective trends in field of clinical radiation genetics are outlined, there are as follows: - application of early diagnostics and prophylaxis of radiation-induced pathology of both the stochastic and nonstochastic characters; - conducting of biologic dosimetry; - wide application of peri-conception prophylaxis of genetic disorders; - application of anti-mutagens and special food-stuffs making for both the reducing of the absorption and the accumulation of radionuclides in organism; - introduction of long-term programs of correction of developing pathologies caused by multifactorial influence of environment

  10. Wolf population genetics in Europe

    DEFF Research Database (Denmark)

    Hindrikson, Maris; Remm, Jaanus; Pilot, Malgorzata

    2017-01-01

    genetic studies in Europe, covering major studies from the ‘pre-genomic era’ and the first insights of the ‘genomics era’. We analyse, summarize and discuss findings derived from analyses of three compartments of the mammalian genome with different inheritance modes: maternal (mitochondrial DNA), paternal...

  11. Therapeutic approaches to genetic disorders

    African Journals Online (AJOL)

    salah

    Although prevention is the ideal goal for genetic disorders, various types of therapeutic ... The patient being ... pirical or aimed at controlling or mediating signs and symptoms without care. ... plications and gene therapy approaches .... genes family, have opened a wide and .... cancer where nanoparticles are used to.

  12. Endogamy, consanguinity and community genetics

    Indian Academy of Sciences (India)

    Unknown

    Centre for Human Genetics, Edith Cowan University, 100 Joondalup Drive, Perth, WA 6027, Australia ... vidual mutation profiles, but to date the clinical con- .... rity of clinical studies only the effects of consanguinity ..... invest in the training of specialist medical, scientific, ... tions in a prospective study at a teaching hospital.

  13. Genetic predisposition to Parkinson's disease

    DEFF Research Database (Denmark)

    Halling, Jónrit; Petersen, Maria Skaalum; Grandjean, Philippe

    2008-01-01

    OBJECTIVE: To investigate whether the genetic variants of CYP2D6 and HFE are more frequent in Parkinson's disease (PD) patients compared with controls in a population where the prevalence of these variants and PD are increased. METHODS: Blood samples were collected from 79 PD patients and 154...

  14. Genetic Technology and Food Security

    NARCIS (Netherlands)

    Grossman, M.R.

    2014-01-01

    In the United States and globally, producers cultivate millions of hectares of genetically modified crops. In the United States, the USDA, EPA, and FDA govern authorization of GMOs under federal laws and agency regulations. Because food produced from GMOs is not considered materially different from

  15. Cryopreservation of eucalyptus genetic resources

    Science.gov (United States)

    The long-term preservation of forest genetic resources is a vital part of preserving our forest crops for future generations. Unfortunately there are few genebanks dedicated to forest trees and very few methods aside from field plantings of germplasm collections of elite clonal individuals. The use ...

  16. Genetics of Gigantism and Acromegaly

    Science.gov (United States)

    Hannah-Shmouni, Fady; Trivellin, Giampaolo; Stratakis, Constantine A.

    2016-01-01

    Gigantism and acromegaly are rare disorders that are caused by excessive GH secretion and/or high levels of its mediator, IGF-1. Gigantism occurs when excess GH or IGF-1 lead to increased linear growth, before the end of puberty and epiphyseal closure. The majority of cases arise from a benign GH-secreting pituitary adenoma, with an incidence of pituitary gigantism and acromegaly of approximately 8 and 11 per million person-years, respectively. Over the past two decades, our increasing understanding of the molecular and genetic etiologies of pituitary gigantism and acromegaly yielded several genetic causes, including multiple endocrine neoplasia type 1 and 4, McCune-Albright syndrome, Carney complex, familial isolated pituitary adenoma, pituitary adenoma association due to defects in familial succinate dehydrogenase genes, and the recently identified X-linked acrogigantism. The early diagnosis of these conditions helps guide early intervention, screening, and genetic counseling of patients and their family members. In this review, we provide a concise and up-to-date discussion on the genetics of gigantism and acromegaly. PMID:27657986

  17. Dupuytren diathesis and genetic risk

    NARCIS (Netherlands)

    Dolmans, Guido H; de Bock, Geertruida H; Werker, Paul M

    2012-01-01

    PURPOSE: Dupuytren disease (DD) is a benign fibrosing disorder of the hand and fingers. Recently, we identified 9 single nucleotide polymorphisms (SNPs) associated with DD in a genome-wide association study. These SNPs can be used to calculate a genetic risk score for DD. The aim of this study was

  18. Genetic Learning Particle Swarm Optimization.

    Science.gov (United States)

    Gong, Yue-Jiao; Li, Jing-Jing; Zhou, Yicong; Li, Yun; Chung, Henry Shu-Hung; Shi, Yu-Hui; Zhang, Jun

    2016-10-01

    Social learning in particle swarm optimization (PSO) helps collective efficiency, whereas individual reproduction in genetic algorithm (GA) facilitates global effectiveness. This observation recently leads to hybridizing PSO with GA for performance enhancement. However, existing work uses a mechanistic parallel superposition and research has shown that construction of superior exemplars in PSO is more effective. Hence, this paper first develops a new framework so as to organically hybridize PSO with another optimization technique for "learning." This leads to a generalized "learning PSO" paradigm, the *L-PSO. The paradigm is composed of two cascading layers, the first for exemplar generation and the second for particle updates as per a normal PSO algorithm. Using genetic evolution to breed promising exemplars for PSO, a specific novel *L-PSO algorithm is proposed in the paper, termed genetic learning PSO (GL-PSO). In particular, genetic operators are used to generate exemplars from which particles learn and, in turn, historical search information of particles provides guidance to the evolution of the exemplars. By performing crossover, mutation, and selection on the historical information of particles, the constructed exemplars are not only well diversified, but also high qualified. Under such guidance, the global search ability and search efficiency of PSO are both enhanced. The proposed GL-PSO is tested on 42 benchmark functions widely adopted in the literature. Experimental results verify the effectiveness, efficiency, robustness, and scalability of the GL-PSO.

  19. Genetic Engineering and Crop Production.

    Science.gov (United States)

    Jones, Helen C.; Frost, S.

    1991-01-01

    With a spotlight upon current agricultural difficulties and environmental dilemmas, this paper considers both the extant and potential applications of genetic engineering with respect to crop production. The nonagricultural factors most likely to sway the impact of this emergent technology upon future crop production are illustrated. (JJK)

  20. Genetics Home Reference: Tourette syndrome

    Science.gov (United States)

    ... and Vocal Tic Disorder Gilles de la Tourette Syndrome Gilles de la Tourette's syndrome GTS TD Tourette Disorder Tourette's Disease TS Related ... Additional Information & Resources MedlinePlus (2 links) Encyclopedia: Gilles de la Tourette syndrome Health Topic: Tourette Syndrome Genetic and Rare Diseases ...

  1. 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; ...

  2. Genetics Home Reference: Rett syndrome

    Science.gov (United States)

    ... Genetic Testing Registry: Rett syndrome Other Diagnosis and Management Resources (4 links) Boston Children's Hospital GeneReview: MECP2-Related Disorders MedlinePlus Encyclopedia: Rett Syndrome RettSyndrome.org: Rett Syndrome Clinics General Information from MedlinePlus (5 links) Diagnostic Tests ...

  3. Genetics of gigantism and acromegaly.

    Science.gov (United States)

    Hannah-Shmouni, Fady; Trivellin, Giampaolo; Stratakis, Constantine A

    Gigantism and acromegaly are rare disorders that are caused by excessive GH secretion and/or high levels of its mediator, IGF-1. Gigantism occurs when excess GH or IGF-1 lead to increased linear growth, before the end of puberty and epiphyseal closure. The majority of cases arise from a benign GH-secreting pituitary adenoma, with an incidence of pituitary gigantism and acromegaly of approximately 8 and 11 per million person-years, respectively. Over the past two decades, our increasing understanding of the molecular and genetic etiologies of pituitary gigantism and acromegaly yielded several genetic causes, including multiple endocrine neoplasia type 1 and 4, McCune-Albright syndrome, Carney complex, familial isolated pituitary adenoma, pituitary adenoma association due to defects in familial succinate dehydrogenase genes, and the recently identified X-linked acrogigantism. The early diagnosis of these conditions helps guide early intervention, screening, and genetic counseling of patients and their family members. In this review, we provide a concise and up-to-date discussion on the genetics of gigantism and acromegaly. Published by Elsevier Ltd.

  4. Genetics Home Reference: trisomy 13

    Science.gov (United States)

    ... 15;93(6):801-3. Citation on PubMed Hall HE, Chan ER, Collins A, Judis L, Shirley S, ... CRISPR-Cas9? What is direct-to-consumer genetic testing? What is precision medicine? What is newborn screening? ...

  5. An overview of posttraumatic stress disorder genetic studies by analyzing and integrating genetic data into genetic database PTSDgene

    NARCIS (Netherlands)

    Zhang, Kunlin; Qu, Susu; Chang, Suhua; Li, Gen; Cao, Chengqi; Fang, Kechi; Olff, Miranda; Wang, Li; Wang, Jing

    2017-01-01

    Posttraumatic stress disorder (PTSD) is a debilitating psychiatric syndrome with complex etiology. Studies aiming to explore genetic susceptibility and environmental triggers of PTSD have been increasing. However, the results are limited and highly heterogeneous. To understand the genetic study

  6. Genetics problem solving and worldview

    Science.gov (United States)

    Dale, Esther

    The research goal was to determine whether worldview relates to traditional and real-world genetics problem solving. Traditionally, scientific literacy emphasized content knowledge alone because it was sufficient to solve traditional problems. The contemporary definition of scientific literacy is, "The knowledge and understanding of scientific concepts and processes required for personal decision-making, participation in civic and cultural affairs and economic productivity" (NRC, 1996). An expanded definition of scientific literacy is needed to solve socioscientific issues (SSI), complex social issues with conceptual, procedural, or technological associations with science. Teaching content knowledge alone assumes that students will find the scientific explanation of a phenomenon to be superior to a non-science explanation. Formal science and everyday ways of thinking about science are two different cultures (Palmer, 1999). Students address this rift with cognitive apartheid, the boxing away of science knowledge from other types of knowledge (Jedege & Aikenhead, 1999). By addressing worldview, cognitive apartheid may decrease and scientific literacy may increase. Introductory biology students at the University of Minnesota during fall semester 2005 completed a written questionnaire-including a genetics content-knowledge test, four genetic dilemmas, the Worldview Assessment Instrument (WAI) and some items about demographics and religiosity. Six students responded to the interview protocol. Based on statistical analysis and interview data, this study concluded the following: (1) Worldview, in the form of metaphysics, relates to solving traditional genetic dilemmas. (2) Worldview, in the form of agency, relates to solving traditional genetics problems. (3) Thus, worldview must be addressed in curriculum, instruction, and assessment.

  7. New perspectives on preimplantation genetic diagnosis and preimplantation genetic screening.

    Science.gov (United States)

    Chen, Chun-Kai; Yu, Hsing-Tse; Soong, Yung-Kuei; Lee, Chyi-Long

    2014-06-01

    Preimplantation genetic diagnosis is a procedure that involves the removal of one or more nuclei from oocytes (a polar body) or embryos (blastomeres or trophectoderm cells) in order to test for problems in genome sequence or chromosomes of the embryo prior to implantation. It provides new hope of having unaffected children, as well as avoiding the necessity of terminating an affected pregnancy for genetic parents who carry an affected gene or have balanced chromosomal status. Polymerase chain reaction-based molecular techniques are the methods used to detect gene defects with a known sequence and X-linked diseases. The indication for using this approach has expanded for couples who are prevented from having babies because they carry a serious genetic disorder to couples with conditions that are not immediately life threatening, such as cancer predisposition genes and Huntington disease. In addition, fluorescent in situ hybridization (FISH) has been widely applied for the detection of chromosome abnormalities. FISH allows the evaluation of many chromosomes at the same time, up to 15 chromosome pairs in a single cell. Preimplantation genetic screening, defined as a test that screens for aneuploidy, has been most commonly used in situations of advanced maternal age, a history of recurrent miscarriage, a history of repeated implantation failure, or a severe male factor. Unfortunately, randomized controlled trials have as yet shown no benefit with respect to preimplantation genetic screening using cleavage stage biopsy, which is probably attributable to the high levels of mosaicism at early cleavage stages and the limitations of FISH. Recently, two main types of array-based technology combined with whole genome amplification have been developed for use in preimplantation genetic diagnosis; these are comparative genomic hybridization and single nucleotide polymorphism-based arrays. Both allow the analysis of all chromosomes, and the latter also allows the haplotype of

  8. New perspectives on preimplantation genetic diagnosis and preimplantation genetic screening

    Directory of Open Access Journals (Sweden)

    Chun-Kai Chen

    2014-06-01

    Full Text Available Preimplantation genetic diagnosis is a procedure that involves the removal of one or more nuclei from oocytes (a polar body or embryos (blastomeres or trophectoderm cells in order to test for problems in genome sequence or chromosomes of the embryo prior to implantation. It provides new hope of having unaffected children, as well as avoiding the necessity of terminating an affected pregnancy for genetic parents who carry an affected gene or have balanced chromosomal status. Polymerase chain reaction-based molecular techniques are the methods used to detect gene defects with a known sequence and X-linked diseases. The indication for using this approach has expanded for couples who are prevented from having babies because they carry a serious genetic disorder to couples with conditions that are not immediately life threatening, such as cancer predisposition genes and Huntington disease. In addition, fluorescent in situ hybridization (FISH has been widely applied for the detection of chromosome abnormalities. FISH allows the evaluation of many chromosomes at the same time, up to 15 chromosome pairs in a single cell. Preimplantation genetic screening, defined as a test that screens for aneuploidy, has been most commonly used in situations of advanced maternal age, a history of recurrent miscarriage, a history of repeated implantation failure, or a severe male factor. Unfortunately, randomized controlled trials have as yet shown no benefit with respect to preimplantation genetic screening using cleavage stage biopsy, which is probably attributable to the high levels of mosaicism at early cleavage stages and the limitations of FISH. Recently, two main types of array-based technology combined with whole genome amplification have been developed for use in preimplantation genetic diagnosis; these are comparative genomic hybridization and single nucleotide polymorphism-based arrays. Both allow the analysis of all chromosomes, and the latter also allows

  9. Genetics of hereditary neurological disorders in children.

    Science.gov (United States)

    Huang, Yue; Yu, Sui; Wu, Zhanhe; Tang, Beisha

    2014-04-01

    Hereditary neurological disorders (HNDs) are relatively common in children compared to those occurring in adulthood. Recognising clinical manifestations of HNDs is important for the selection of genetic testing, genetic testing results interpretation, and genetic consultation. Meanwhile, advances in next generation sequencing (NGS) technologies have significantly enabled the discovery of genetic causes of HNDs and also challenge paediatricians on applying genetic investigation. Combination of both clinical information and advanced technologies will enhance the genetic test yields in clinical setting. This review summarises the clinical presentations as well as genetic causes of paediatric neurological disorders in four major areas including movement disorders, neuropsychiatric disorders, neuron peripheral disorders and epilepsy. The aim of this review is to help paediatric neurologists not only to see the clinical features but also the complex genetic aspect of HNDs in order to utilise genetic investigation confidently in their clinical practice. A smooth transition from research based to clinical use of comprehensive genetic testing in HNDs in children could be foreseen in the near future while genetic testing, genetic counselling and genetic data interpretation are in place appropriately.

  10. Multispecies genetic objectives in spatial conservation planning.

    Science.gov (United States)

    Nielsen, Erica S; Beger, Maria; Henriques, Romina; Selkoe, Kimberly A; von der Heyden, Sophie

    2017-08-01

    Growing threats to biodiversity and global alteration of habitats and species distributions make it increasingly necessary to consider evolutionary patterns in conservation decision making. Yet, there is no clear-cut guidance on how genetic features can be incorporated into conservation-planning processes, despite multiple molecular markers and several genetic metrics for each marker type to choose from. Genetic patterns differ between species, but the potential tradeoffs among genetic objectives for multiple species in conservation planning are currently understudied. We compared spatial conservation prioritizations derived from 2 metrics of genetic diversity (nucleotide and haplotype diversity) and 2 metrics of genetic isolation (private haplotypes and local genetic differentiation) in mitochondrial DNA of 5 marine species. We compared outcomes of conservation plans based only on habitat representation with plans based on genetic data and habitat representation. Fewer priority areas were selected for conservation plans based solely on habitat representation than on plans that included habitat and genetic data. All 4 genetic metrics selected approximately similar conservation-priority areas, which is likely a result of prioritizing genetic patterns across a genetically diverse array of species. Largely, our results suggest that multispecies genetic conservation objectives are vital to creating protected-area networks that appropriately preserve community-level evolutionary patterns. © 2016 Society for Conservation Biology.

  11. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    Keywords. antagonistic pleiotropy; balancer chromosomes; environmental heterogeneity; maintenance of genetic variation; trade-offs. Abstract. A fundamental assumption of models for the maintenance of genetic variation by environmental heterogeneity is that selection favours different genotypes in different environments.

  12. Genetic Counseling for Congenital Heart Defects

    Science.gov (United States)

    ... Artery Disease Venous Thromboembolism Aortic Aneurysm More Genetic Counseling for Congenital Heart Defects Updated:Jan 19,2018 ... with congenital heart disease considers having children. Genetic counseling can help answer these questions and address your ...

  13. Genetic structure of Potentilla acaulis (Rosaceae) populations ...

    African Journals Online (AJOL)

    Jane

    2011-07-18

    Jul 18, 2011 ... populations based on randomly amplified polymorphic. DNA (RAPD) in habitat ..... the correlation between ΦST values and genetic distances was highly ... Propagule recruitment from genets of perennial clonal plants could ...

  14. Genetics Home Reference: X-linked adrenoleukodystrophy

    Science.gov (United States)

    ... PubMed Wanders RJ, Waterham HR. Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders. Clin Genet. ... not be used as a substitute for professional medical care or advice. Users with questions about a ...

  15. Archives: Egyptian Journal of Medical Human Genetics

    African Journals Online (AJOL)

    Items 1 - 34 of 34 ... Archives: Egyptian Journal of Medical Human Genetics. Journal Home > Archives: Egyptian Journal of Medical Human Genetics. Log in or Register to get access to full text downloads.

  16. Arthritis Genetics Analysis Aids Drug Discovery

    Science.gov (United States)

    ... NIH Research Matters January 13, 2014 Arthritis Genetics Analysis Aids Drug Discovery An international research team identified 42 new ... Edition Distracted Driving Raises Crash Risk Arthritis Genetics Analysis Aids Drug Discovery Oxytocin Affects Facial Recognition Connect with Us ...

  17. Clinical applications of preimplantation genetic testing.

    Science.gov (United States)

    Brezina, Paul R; Kutteh, William H

    2015-02-19

    Genetic diagnostic technologies are rapidly changing the way medicine is practiced. Preimplantation genetic testing is a well established application of genetic testing within the context of in vitro fertilization cycles. It involves obtaining a cell(s) from a developing embryo in culture, which is then subjected to genetic diagnostic analysis; the resulting information is used to guide which embryos are transferred into the uterus. The potential applications and use of this technology have increased in recent years. Experts agree that preimplantation genetic diagnosis is clinically appropriate for many known genetic disorders. However, some applications of such testing, such as preimplantation genetic screening for aneuploidy, remain controversial. Clinical data suggest that preimplantation genetic screening may be useful, but further studies are needed to quantify the size of the effect and who would benefit most. © BMJ Publishing Group Ltd 2015.

  18. Genetics Home Reference: severe congenital neutropenia

    Science.gov (United States)

    ... A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. ... Genetic Testing Registry: Severe congenital neutropenia 2, autosomal dominant Genetic Testing Registry: Severe congenital neutropenia 3, autosomal ...

  19. Genetics Home Reference: progressive external ophthalmoplegia

    Science.gov (United States)

    ... and can affect both males and females, but fathers do not pass traits associated with changes in ... Genetic Testing (4 links) Genetic Testing Registry: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 ...

  20. Genetics of blue-green algae

    International Nuclear Information System (INIS)

    Ladha, J.K.; Kumar, H.D.

    1978-01-01

    Mutagenesis and genetics of cyanophyceae are reviewed. Mutant isolation, ultraviolet inactivation, reactivation and production of mutants resistant or sensitive to ultraviolet light, control of gene expression, genetic transfer and mapping are discussed. (UK)

  1. Genetics Home Reference: neurofibromatosis type 1

    Science.gov (United States)

    ... in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS). Am J Med Genet A. 2003 May ... mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. Am J Hum Genet. 2005 Dec;77(6): ...

  2. Indigenous chicken genetic resources in South Africa

    African Journals Online (AJOL)

    User

    A comparison of genetic diversity between South African conserved and field ... economic loss for human populations, especially in developing countries. .... for Development of National Management of Farm Animal Genetic Resources.

  3. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    polygenes; additive genetic variance; epistasis; dominance; selection ... seem to run out of genetic variability even after many generations of directional selection. ... Conspicuous examples are the small number of loci that changed teosinte to ...

  4. Genetics Home Reference: arterial tortuosity syndrome

    Science.gov (United States)

    ... arteries are fixed, the extra length twists and curves. Other blood vessel abnormalities that may occur in ... Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  5. Genetics Home Reference: 3-M syndrome

    Science.gov (United States)

    ... such as a rounded upper back that also curves to the side (kyphoscoliosis) or exaggerated curvature of ... Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  6. Genetics Home Reference: congenital contractural arachnodactyly

    Science.gov (United States)

    ... underdeveloped muscles, a rounded upper back that also curves to the side ( kyphoscoliosis ), permanently bent fingers and ... Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  7. Genetics Home Reference: spondylocarpotarsal synostosis syndrome

    Science.gov (United States)

    ... curved lower back ( lordosis ) and a spine that curves to the side ( scoliosis ). People with spondylocarpotarsal synostosis ... Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  8. Genetics Home Reference: Freeman-Sheldon syndrome

    Science.gov (United States)

    ... Affected individuals may also have a spine that curves to the side ( scoliosis ). People with Freeman-Sheldon ... Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  9. Genetics Home Reference: juvenile primary osteoporosis

    Science.gov (United States)

    ... bones (decreased bone mineral density), which makes the bones brittle and prone to fracture. Affected individuals often have ... information about a genetic condition can statistics provide? Why are some genetic conditions more common in particular ...

  10. Genetics Home Reference: lysinuric protein intolerance

    Science.gov (United States)

    ... stature, muscle weakness, impaired immune function, and progressively brittle bones that are prone to fracture ( osteoporosis ). A lung ... information about a genetic condition can statistics provide? Why are some genetic conditions more common in particular ...

  11. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    phenylketonuria; phenylalanine hydroxylase; gene mutation; human genetics. ... of Clinical Medical Research, Urumqi General Hospital of Lanzhou Command, PLA, Urumqi 830000, People's Republic of China; Department of Medical Genetics, Capital Institute of Pediatrics, Beijing 100020, People's Republic of China ...

  12. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    Genetic interaction and mapping studies on the leaflet development (lld) mutant in Pisum ... Genetic features of thyroid hormone receptors ... DREB1/CBF transcription factors: their structure, function and role in abiotic stress tolerance in plants.

  13. What Are the Types of Genetic Tests?

    Science.gov (United States)

    ... or catastrophe victims, rule out or implicate a crime suspect, or establish biological relationships between people (for example, paternity). For more information about the uses of genetic testing: A Brief Primer on Genetic Testing , which ...

  14. Genetics Home Reference: complement component 8 deficiency

    Science.gov (United States)

    ... in people with Hispanic, Japanese, or African Caribbean heritage, whereas type II primarily occurs in people of Northern European descent. Related Information What information about a genetic condition can statistics provide? Why are some genetic ...

  15. Genetic and perinatal effects of abused substances

    Energy Technology Data Exchange (ETDEWEB)

    Brande, M.C.; Zimmerman, A.M.

    1987-01-01

    This book provides an overview of the effects of several abused drugs, including opiates, cannabinoids, alcohol, nicotine, and cocaine, with special emphasis on the actions of these substances at the molecular and cellular levels. The first half deals with genetic effects, including molecular genetics, biochemical genetics, pharmacogenetics, cytogenetics, and genetic toxicity. The second half focuses on perinatal effects and covers: drug abuse during pregnancy; biochemical aspects of marihuana on male reproduction; and long-term behavioral and neuroendocrine effects of perinatal alcohol exposure.

  16. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    Home; Journals; Journal of Genetics. ARMANDO SUNNY. Articles written in Journal of Genetics. Volume 96 Issue 6 December 2017 pp 873-883 RESEARCH ARTICLE. Genetic variability and structure of an isolated population of Ambystoma altamirani , a mole salamander that lives in the mountains of one of the largest ...

  17. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    Home; Journals; Journal of Genetics. BINLONG CHEN. Articles written in Journal of Genetics. Volume 95 Issue 3 September 2016 pp 675-681 RESEARCH ARTICLE. Genetic diversity of bitter taste receptor gene family in Sichuan domestic and Tibetan chicken populations · YUAN SU DIYAN LI UMA GAUR YAN WANG ...

  18. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    Home; Journals; Journal of Genetics. Joseph M. Shostell. Articles written in Journal of Genetics. Volume 84 Issue 2 August 2005 pp 147-171 Research Article. Population genetic analysis of cat populations from Mexico, Colombia, Bolivia, and the Dominican Republic: identification of different gene pools in Latin America.

  19. Microsatellite data analysis for population genetics

    Science.gov (United States)

    Theories and analytical tools of population genetics have been widely applied for addressing various questions in the fields of ecological genetics, conservation biology, and any context where the role of dispersal or gene flow is important. Underlying much of population genetics is the analysis of ...

  20. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    Home; Journals; Journal of Genetics. JAI BHAGWAN SHARMA. Articles written in Journal of Genetics. Volume 96 Issue 2 June 2017 pp 291-297 RESEARCH ARTICLE. Genetics and mapping of a new leaf rust resistance gene in Triticum aestivum L. × Triticum timopheevii Zhuk. derivative 'Selection G12' · AMIT KUMAR ...