国际眼科杂志2013，Vol.13Issue(6)：1212-1214,3.DOI:10.3980/j.issn.1672-5123.2013.06.43
东北地区一遗传性白内障家系的临床遗传学及基因定位研究
Clinical genetics and gene mapping studies on a family in the area of northeast with hereditary cataract
摘要
Abstract
AIM: To map the causal gene of congenital nuclear cataract in a family in the area of northeast.METHODS: We investigated there generations of a Chinese family affected with hereditary cataract. Peripheral blood samples were collected from all of the family members, and genomic DNA was then extracted from the blood samples. Linkage analysis was performed using 62microsatellite markers. Two-point LOD scores (Z) were calculated using the LINKAGE programs (ver. 5.2). Haplotypes were constructed according to the allele information.RESULTS: The affected members in this family showed classic phenotype of autosomal dominant congenital cataract. The maximum two-point LOD score of 2. 71 was obtained for marker D22S689 (θ= 0). Haplotype analysis traced the disease gene on chromosome 22q11.2-12.1, containing CRYBB1, CRYBB2, CRYBB3, CRYBA4 genes.CONCLUSION: The occurrence of congenital nuclear cataract consistents with the autosomal dominant inherited regular, and the causal gene of congenital nuclear cataract localize at 22q11.2-12.1 in this family.关键词
常染色体显性遗传性白内障/连锁分析/基因Key words
autosomal dominant congenital cataract/ linkage analysis/ gene引用本文复制引用
张天晓,马立威,赵江月,张学,张劲松..东北地区一遗传性白内障家系的临床遗传学及基因定位研究[J].国际眼科杂志,2013,13(6):1212-1214,3.基金项目
中国辽宁省沈阳市科学技术计划资助项目(No.F10-149-9-54) （No.F10-149-9-54）
中国辽宁省博士启动基金资助项目(No.20101150) （No.20101150）
