Genetic Linkage Analysis of Autosomal Dominant Congenital Cataracts with Lens-specific DNA Probes and Polymorphic Phenotypic Markers
作者： David J. Barrett , Robert S. Sparkes , Michael B. Gorin , Suraj P. Bhat , M. Anne Spence
DOI: 10.1016/S0161-6420(88)33153-2
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摘要: Abstract The authors studied a four-generation family with autosomal dominant congenital cataracts (ADCCs) using linkage analysis 23 polymorphic phenotypic markers and DNA restriction fragment length polymorphisms (RFLPs) detected by lens-specific probes. A total of 19 members were the ten affected had embryonal lens opacities. Close was rejected probes encoding β-crystallin, γ-crystallin, major intrinsic protein fiber membrane (MIP) excluding defects these genes as cause cataract in this family. No statistically significant lod scores produced markers. These results support genetic heterogeneity ADCCs.
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