一个先天性常染色体显性遗传性全白内障家系致病基因的定位分析  

Gene mapping of a pedigree with autosomal dominant congenital total cataract

作　　者：赫红丹[1] 齐艳华[2] 邴寒[1] 初海迪[1] 金奎东[1] 程笑冬[1] 崔心明[1] 

机构地区：[1]黑龙江省医院眼科,哈尔滨150001 [2]哈尔滨医科大学附属第二医院眼科,150081

出　　处：《国际遗传学杂志》2015年第3期127-131,共5页International Journal of Genetics

基　　金：黑龙江省卫生计生委科研项目（2013376）

摘　　要：目的对一个中国人先天性常染色体显性遗传性全白内障家系的相关致病基因进行定位分析。方法收集一个先天性全白内障家系中10个成员的外周血样本，提取基因组DNA。应用PCR技术对已报道的与先天性白内障相关致病基因附近的微卫星多态性标记进行检测，使用Mlink软件对结果进行连锁分析，最终绘制该家系各成员的单体型图，初步定位致病基因。结果通过对15个微卫星位点的分析，发现在D21s212位点处存在连锁（最大LOD=1．20，重组率0=0），进一步检测该位点附近6个微卫星标记，经连锁分析确定致病基因位置。结论该家系的相关致病基因初步定位于染色体21q11．2-qter，此范围内的CRYAA基因可能为其致病基因。本研究将对遗传性全白内障的发病机制提供有价值的信息。Objective To map the gene for autosomal dominant congenital total cataract in a Chinese family. Methods Genomic DNA was extracted from the peripheral blood samples of 10 members of this family. Mierosatellite markers were selected from the regions near the genes and loci previously reported involving in congenital cataract. The markers were amplified by polymerase chain reaction. Linkage analysis was carried out by the MLINK program. Finally haplotype of this pedigree was made and the mutation gene was determined. Results Through the analysis of 15 microsatellite makers, significant positive maximum LOD scores （ Zmax ） at recombination fraction （ 0 = 0 ） was obtained for marker D21 S212 （ Zmax = 1.2 ） . By further testing 6 markers near this site, the region of the mutation gene in this family was located by linkage analysis. Conclusion The mutation gene in this pedigree is located at chromosome 21 q 11.2-qter. This interval contains CRYAA gene. This study provides valuable information for clarifying the pathogenesis of congenital total cataract.

关 键 词：全白内障 连锁分析 微卫星标记 

分 类 号：R776.1[医药卫生—眼科]