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Query: UMLS:C0574769 (Balding)
 33 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

There is an inherited susceptibility to polycystic ovary syndrome (PCOS). Some investigators have suggested that premature male-pattern balding is a male phenotype in PCOS families, but this remains controversial. We recently reported evidence for an autosomal monogenic abnormality in ovarian and adrenal steroidogenesis in the sisters of women with PCOS. We performed this study to determine whether we could identify a clinical or biochemical phenotype in the brothers of women with PCOS. One hundred nineteen brothers of 87 unrelated women with PCOS and 68 weight- and ethnicity-comparable unrelated control men were examined and had fasting blood samples obtained. The odds of balding (Hamilton score > or = V) did not differ in the brothers of PCOS women compared with control men. Brothers of women with PCOS had significantly elevated dehydroepiandrosterone sulfate (DHEAS) levels [brothers 3035 +/- 1132 ng/ml (mean +/- SD) vs. control men 2494 +/- 1172 ng/ml; P < 0.05]. There was a significant positive linear relationship between DHEAS levels in PCOS probands and their brothers (r = 0.35; P = 0.001). There was no significant bimodal distribution in DHEAS levels, and there were no significant differences in other parameters in brothers of PCOS women with high DHEAS levels compared with those with low DHEAS levels. There is familial clustering of elevated DHEAS levels in the brothers of women with PCOS, suggesting that this is a genetic trait. This might reflect the same underlying defect in steroidogenesis that we found in the sisters of women with PCOS. Balding was not increased in the brothers of women with PCOS. We conclude that there is a biochemical reproductive endocrine phenotype in men in PCOS families.
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PMID:Elevated dehydroepiandrosterone sulfate levels as the reproductive phenotype in the brothers of women with polycystic ovary syndrome. 1199 53

There have been several efforts to codify the approach to interpreting DNA evidence [National Research Council, The Evaluation of Forensic DNA Evidence, National Academy Press, Washington, DC, 1996; I.W. Evett, B.S. Weir, Interpreting DNA Evidence: Statistical Genetics for Forensic Scientists Sinauer, Sunderland, MA, 1998]. Despite these efforts there are still aspects of ad hoc decision making in modern DNA interpretation. This article discusses some of the remaining areas of concern in this respect. Because of the immense discriminating power of DNA evidence it is unlikely that these concerns would contribute to a miscarriage of justice. They are more likely to lead to lengthy and wasteful debate in court, and to potential appeals. We advocate a previously developed approach to DNA evidence [Sci. Justice 39 (4) (1999) 257; B.S. Weir, in: D.J. Balding, C. Cannings, M. Bishop (Eds.), Handbook of Statistical Genetics, Wiley Series in Probability and Statistics, Wiley, New York, ISBN: 0-471-86094-8, 2001; J. R. Stat. Soc. A 158 (1) (1995) 21] that would give a more solid logical foundation and hopefully lead to sounder and less debatable testimony.
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PMID:Logical implications of applying the principles of population genetics to the interpretation of DNA profiling evidence. 1217 88

Dihydrotestosterone (DHT), a potent androgen, is converted from testosterone by 5alpha-reductase isozymes. There are two 5alpha-reductase isozymes, type 1 and type 2 in humans and animals. These two isozymes have differential biochemical and molecular features. Mutations in type 2 isozyme cause male pseudohermaphroditism, and many mutations have been reported from various ethnic groups. The affected 46XY individuals have high normal to elevated plasma testosterone levels with decreased DHT levels and elevated testosterone/DHT ratios. They have ambiguous external genitalia at birth so that they are believed to be girls and are often raised as such. However, Wolffian differentiation occurs normally and they have epididymides, vas deferens and seminal vesicles. Virilization occurs at puberty frequently with a gender role change. The prostate in adulthood is small and rudimentary, and facial and body hair is absent or decreased. Balding has not been reported. Spermatogenesis is normal if the testes are descended. The clinical, biochemical and molecular genetic analyses of 5alpha-reductase-2 deficiency highlight the significance of DHT in male sexual differentiation and male pathophysiology.
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PMID:Androgens and male physiology the syndrome of 5alpha-reductase-2 deficiency. 1257 14

An aim of the European Network of Forensic Science Institutes (ENFSI) is to produce a DNA database of second generation multiplex (SGM) STR profiles that is representative of the resident cosmopolitan populations. To achieve this, data were collected from 24 different populations. All of the data were combined to form one database of 5700 profiles from which allele proportions were calculated. The robustness of this combined European database was tested by estimating parameter d for every DNA profile, where d=log(10)(Pm(c)/Pm(E)) Pm(c) is the match probability of the profile calculated from its cognate database and Pm(E) is the match probability of the combined European database. Overall there was a small tendency for Pm(c)>Pm(E) primarily because of sampling bias. This bias was removed by the simple expediency of applying an adjustment factor to the calculation of Pm(E). These were selected from the Balding size bias correction, the Balding and Nichols Fst correction, a minimum allele proportion (between 0.01 and 0.02), an upper bound of a 95% confidence interval (CI) and a lower bound on the genotype match probability. It was demonstrated that a single European database is a feasible proposition. A combination of different adjustment methods can be used to ensure that the result is conservative relative to the cognate database, and their effect measured by parameter d.
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PMID:A comparison of adjustment methods to test the robustness of an STR DNA database comprised of 24 European populations. 1259 58

Does the evidential strength of a DNA match depend on whether the suspect was identified through database search or through other evidence ("probable cause")? In Balding and Donnelly (1995, Journal of the Royal Statistical Society, Series A 158, 21-53) and elsewhere, it has been argued that the evidential strength is slightly larger in a database search case than in a probable cause case, while Stockmarr (1999, Biometrics 55, 671-677) reached the opposite conclusion. Both these approaches use likelihood ratios. By making an excursion to a similar problem, the two-stain problem, we argue in this article that there are certain fundamental difficulties with the use of a likelihood ratio, which can be avoided by concentrating on the posterior odds. This approach helps resolving the above-mentioned conflict.
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PMID:The evidential value in the DNA database search controversy and the two-stain problem. 1460 75

The performance of the sub-population model first proposed by Balding and Nichols [D.J. Balding, R.A. Nichols, DNA profile match probability calculation: how to allow for population stratification, relatedness, database selection and single bands. Forensic Sci. Int. 64 (1994) 125-140] is examined using a simulation approach. This work extends the investigations of Curran et al. [J.M. Curran, J.S. Buckleton, and C.M. Triggs, What is the magnitude of the sub-population effect? Forensic Sci. Int. 135 (2003) 1-8]. In particular the effect of underestimating the coancestry coefficient, theta, and the effect of departures from the modelling assumptions were investigated. The model tends to give strongly conservative estimates if the estimate for the coancestry coefficient is accurate. If this coefficient is underestimated then a larger fraction of cases give non-conservative estimates. Departures from the modelling assumption that the sub-population is in Hardy-Weinberg and linkage equilibria appear to have very little effect.
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PMID:How reliable is the sub-population model in DNA testimony? 1592 69

Balding men are viewed as less desirable in a physical, personal, and social sense. Given the stereotype, it is not surprising that some men with androgenetic alopecia (AGA) appear to have a lower self-image, depression resulting in increased introversion, and increased feelings of unattractiveness. Ours is a culture that places a premium on physical appearance. In this context, appearance-altering conditions can be psychosocially insidious, especially conditions such as AGA with an uncertain course and a negative social meaning. To date, little or no data have been available regarding the psychosocial and quality-of-life aspects of AGA in a representative sample of community men. It is unknown whether AGA is a causal factor in the development of low self-esteem, depression, introversion, and feeling of unattractiveness, or whether there are underlying problems in certain patients prior to hair loss. Longitudinal studies will be important to investigate the temporal relationships between the degree of hair loss and psychosocial variables associated with AGA. A patient with male pattern baldness will be better treated and consequently more satisfied (better quality of life) if he receives effective anti-alopecia agents and simultaneously is evaluated and treated, if needed, for his psychological disorder.
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PMID:Psychological aspects of hair disease. 1716 14

DNA profiling results presented in court must be accompanied by a statistical estimate of its evidential weight. In calculating such statistics, allele frequencies from the tested loci are required. This paper reports allele frequencies and the results of population genetic testing of datasets of autosomal microsatellite profiles from Australian Caucasian donors. In contrast to previous practice in Australia these data have been collated at the national level rather than at the State and Territory level. We consider that this national dataset could be used in forensic DNA casework throughout Australia as previously recommended by Ayres et al. [K.L. Ayres, J. Chaseling, D.J. Balding, Implications for DNA identification arising from an analysis of Australian forensic databases, Forensic Sci. Int. 129 (2002) 90-98].
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PMID:Autosomal microsatellite allele frequencies for a nationwide dataset from the Australian Caucasian sub-population. 1733 87

Estimation of population subdivision using genetic markers shows that genetic differentiation in livestock and pet breeds is significantly higher than in human populations. Nevertheless, the influence of population substructure and sample size on match probability has not been extensively analyzed in domestic species. To evaluate the magnitude of the subpopulation effect on estimation of match probabilities in bovine robbery cases, we calculated and compared the match probabilities obtained from cattle breed databases using both real, adjudicated cases from the Buenos Aires Province (Argentina), as well as simulated data. While the Balding and Nichols' correction, when applied to the population database used in the case, produce a more conservative value favorable to the defendant, the match probabilities calculated using the simple product estimator produce a value favorable to the prosecution. We suggest an alternative procedure that can be used. The method consists of choosing the highest value from all match probabilities calculated from the database of each breed. This approach represents an intermediate and more accurate estimation of match probability, although it still produces a slight conservative value favorable to the defense.
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PMID:Implication of population structure in the resolution of cattle stealing cases. 1768 Jul 92

The result of empirical testing of forensic DNA match probabilities for Croatia is reported. It is concluded that if consideration is given to relatedness and subpopulation effects the model of Balding and Nichols appears to give very good predictions.
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PMID:Empirical support for the reliability of DNA interpretation in Croatia. 1908 68


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