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目的明确一个国人常染色体显性先天性白内障(ADCC)家系致病基因的染色体位点是否位于已知的22个非综合征型ADCC致病位点内,从而初步定位该ADCC家系致病基因的染色体位点。设计家系遗传研究。研究对象一个先天性白内障家系。方法对26例家系成员中的16例进行临床检查、采集静脉血样、提取基因组DNA;在已知的22个非综合征型ADCC致病位点内,分别选取3～6个多态性微卫星标记,对该ADCC家系进行遗传连锁分析。主要指标先天性白内障临床表型、Lod值。结果该家系患者为晶状体前囊膜及前囊膜下混浊;所有多态性微卫星标记与致病基因两点间的Lod值均≤-2,证实微卫星标记所在的染色体区域与该ADCC家系的致病基因不连锁。结论该ADCC家系致病基因的染色体位点不在已知的22个非综合征型ADCC致病位点内,可能是一个新的致病基因导致了该家系的临床表型。
Objective To determine whether the chromosomal location of the causative gene of a Chinese family with autosomal dominant congenital cataract (ADCC) is located within the known 22 non-syndromic ADCC pathogenic sites to initially locate the causative genes of the ADCC family Chromosomal locus. Designing pedigree genetic research. Study of a congenital cataract family. Methods Twenty-six of 26 family members were enrolled in this study. Venous blood samples were collected for genomic DNA extraction. Among the 22 non-syndromic ADCC pathogenic sites, 3 to 6 polymorphic microsatellite loci Markers, genetic linkage analysis of the ADCC pedigree. The main indicators of congenital cataract clinical phenotype, Lod value. Results The pediatric patients had anterior lens capsule and anterior subcapsular opacity. The Lod values of all the polymorphic microsatellite markers and the pathogenic genes were both ≤-2, confirming that the chromosomal region in which the microsatellite marker locates was positively associated with the ADCC pedigree The disease-causing genes are not linked. Conclusion The chromosomal loci of the causative genes in this ADCC family are not located in the known 22 non-syndromic ADCC pathogenesis sites, suggesting that a new causative gene may contribute to the clinical phenotype of this pedigree.