A new locus for autosomal dominant congenital coronary cataract in a Chinese family maps to chromosome 3q
作者： Guishun Liu , Yunbo Li , Yanfei Ruan , Wenping Cao , Li Xin
DOI:
关键词: Chromosome 、 Cataracts 、 Genetic linkage 、 Microsatellite 、 Locus (genetics) 、 Biology 、 Congenital cataracts 、 Genotype 、 Genotyping 、 Genetics
摘要: Purpose To identify the genetic defect in an autosomal dominant congenital coronary cataract family (ADCCC). Methods A Chinese with ADCC was identified and characterized. All members were genotyped microsatellite markers at genes loci that considered to be associated hereditary cataracts. Linkage analysis performed after genotyping. Two-point Logarithm of odds (LOD) scores calculated using MLINK software, from LINKAGE program package. Multipoint parametric non-parametric linkage via MERLIN. Results provided evidence for a locus on chromosome 3q. The maximum LOD score 3.01 (theta=0) two close markers. Conclusions mapping cataracts
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