Showing papers by "Florence Demenais published in 1986"
Journal Article•
TL;DR: It was shown that use of a transformation to remove skewness induced by a major gene leads to a decrease of power of approximately 55%.
Abstract: The resolution between skewness in the distribution of a quantitative trait and segregation of a major gene is a difficult issue in family studies. Quantitative data were simulated on six-member nuclear families in order to study the behavior of the unified model under these circumstances. Replicates of 100 nuclear families were generated assuming a multifactorial model with skewness. In the range where a major gene was falsely detected in 80%-100% of the simulations analyzed under the transmission probability or mixed models, use of the unified model reduces the frequency of false inference to between 10% and 40%. This protection against a false conclusion requires estimation of the three transmission probabilities and testing hypotheses of Mendelian transmission and equal transmission probabilities. Alternatively, it was shown that use of a transformation to remove skewness induced by a major gene leads to a decrease of power of approximately 55%. These results suggest that the unified model may obviate the need to compare analyses performed on transformed and untransformed data, particularly when skewness is low (less than 0.2) or high (greater than 0.4). For intermediate skewness (0.2-0.4), estimating segregation parameters under the mixed model simultaneously with a transformation to remove residual skewness can be considered as an alternative method.
88 citations
15 citations
TL;DR: In a family displaying the familial atypical multiple-mole melanoma syndrome, linkage analyses were performed between HLA and an assumed dominant gene respectively determining each of the following genes: HLA, HLA2, and HLA3.
Abstract: The aim of this work was to study a possible linkage between susceptibility to familial malignant melanoma (FMM) and the HLA region by geno- typing multiplex-case families.
4 citations
TL;DR: Segregation analysis of hearing loss was performed and revealed that familial aggregation could be entirely explained by a single recessive gene with high frequency (0.40).
Abstract: Hearing troubles were found to be very frequent among inhabitants of French origin in a small Caribbean island. Segregation analysis of hearing loss was performed in 165 complete nuclear families and revealed that familial aggregation could be entirely explained by a single recessive gene with high frequency (0.40). Homozygous individuals for this gene would probably be more susceptible to ototoxic agents than other individuals. High frequency of this gene may be due to a founder effect.
3 citations
Journal Article•
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TL;DR: Although there is now accumulating evidence that the host response to Mycobacterium leprae is genetically controlled, the nature of the genetic component is still imprecise and a better understanding of the underlying genetic mechanisms is needed.
2 citations