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目的:报道1个涉及5代17例患者的常染色体显性先天性白内障(ADCC)大家系,并进行致病基因的定位。方法:对家系中8例患者进行眼科检查后明确临床表型,并提取所有血样的基因组DNA。首先对已报道的中国ADCC家系致病位点(9个基因的16个突变位点)进行DNA测序,然后根据已报道的17个ADCC候选基因和13个染色体区域,选取27个微卫星分子标记,应用LINKAGE软件进行连锁分析。结果:8例患者均为先天性核性白内障。直接DNA测序未发现有已报道的中国家系基因突变。所选取的27个微卫星分子标记与该家系致病基因均不连锁。结论:该ADCC家系致病基因不在已报道的17个ADCC候选基因和13个染色体区域,该家系中可能存在一个新的ADCC致病基因。
OBJECTIVE: To report a pedigree of autosomal dominant congenital cataract (ADCC) involving 17 patients of 5 generations and to locate pathogenic genes. METHODS: Eight patients in the pediatric family underwent an ophthalmologic examination to confirm the clinical phenotype and to extract genomic DNA from all blood samples. First reported the DNA sequence of the ADCC pedigree loci (16 mutations of 9 genes) in China, and then selected 27 microsatellite markers according to the reported 17 ADCC candidate genes and 13 chromosomal regions , LINKAGE software chain analysis. Results: All 8 patients had congenital nuclear cataract. Direct DNA sequencing has not been found in Chinese family has been reported gene mutation. The selected 27 microsatellite markers were not linked to the pedigree’s disease-causing genes. Conclusion: The ADCC pedigree is not found in 17 reported ADCC candidate genes and 13 chromosomal regions. There may be a new ADCC pathogenic gene in this pedigree.