An approach for cutting large and complex pedigrees for linkage analysis. (33/112)

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Estimation of pairwise identity by descent from dense genetic marker data in a population sample of haplotypes. (34/112)

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Counting the founders: the matrilineal genetic ancestry of the Jewish Diaspora. (35/112)

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Northwest Siberian Khanty and Mansi in the junction of West and East Eurasian gene pools as revealed by uniparental markers. (36/112)

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Identity-by-descent estimation and mapping of qualitative traits in large, complex pedigrees. (37/112)

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Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis. (38/112)

PURPOSE: Leber congenital amaurosis (LCA) is one of the most severe inherited retinal dystrophies with the earliest age of onset. Mutations in the Crumbs homologue 1 (CRB1; OMIM 600105) gene explain 10%-24% of cases with LCA depending on the population. The aim of the present work was to study a fetal mutation associated to LCA in maternal plasma by a new methodology in the noninvasive prenatal diagnosis field: the denaturing High Performance Liquid Chromatography (dHPLC). METHODS: This study presents the case of a compound heterozygous fetus for two mutations in CRB1 (1q3.1-q32.2). dHPLC and automated DNA sequencing were used to detect the paternally inherited fetal mutation in a maternal plasma sample collected at the 12th week of gestation. To test the detection limit of dHPLC, we made serial dilutions of paternal DNA in control DNA. RESULTS: We were able to detect the presence of the paternally inherited fetal CRB1 mutation in maternal plasma by dHPLC. Moreover, by comparing chromatograms of serial dilutions to the plasma sample, we could ascertain that the percentage of fetal DNA in maternal plasma was at least 2%. However, the detection of the fetal mutation was not possible by automated DNA sequencing. CONCLUSIONS: dHPLC seems to be sensitive enough to detect small amounts of fetal DNA in maternal plasma samples. It could be a useful tool for the noninvasive prenatal detection of paternally inherited point mutations associated with retinopathies.  (+info)

Experimental estimation of mutation rates in a wheat population with a gene genealogy approach. (39/112)

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Phenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series. (40/112)

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