常染色体显性高度近视一家系连锁定位分析  

Linkage analysis of one family with autosomal dominant high myopia

作　　者：常晋霞[1] 张丁丁[2] 林婴[2] 刘兵[3] 鲁芳[2] 唐新[3] 杨洋[2] 陈斌[4] 章崇杰[1] 杨正林[2] 

机构地区：[1]四川大学华西基础与法医学院免疫教研室,成都610041 [2]四川省医学科学院·四川省人民医院分子与生物遗传中心 [3]重庆医科大学检验系 [4]四川省医学科学院·四川省人民医院分眼科

出　　处：《中华医学遗传学杂志》2008年第4期424-426,共3页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金（30671182）

摘　　要：目的通过连锁定位分析，探讨一个中国原发性高度近视家系的致病基因与已报道高度近视相关连锁位点的关系。方法选择一个连续3代发病的常染色体显性高度近视家系，选取位于18p11．31，12q21-23，7q36，17q21-23，4q22-27，2q37．1，7p15．3，15q12-13，10q21.1这9个已报道的常染色体显性高度近视致病基因连锁位点的18个多态性微卫星标记物进行srR基因分型，采用两点法进行连锁分析。结果本家系受累者皆为高度近视，屈光度从-6．00D到-20．00D不等，符合常染色体显性遗传特征。分析显示此9个遗传标记位点与该家系致病基因均不连锁，比值比均〈-1。结论该家系存在一个新的致病基因连锁位点，需进一步实施全基因组多态性微卫星标记连锁分析以确定该家系致病基因的染色体定位。Objective To map the high myopia gene in a Chinese family with autosomal dominant high myopia. Methods A family with autosomal dominant high myopia in three generations was collected. Eighteen short-tandemrepeat markers on previously reported loci linked to high myopia were chosen for genotyping and two-point linkage analysis was carried out. Results The spherical equivalent of affected individuals ranges from - 6.00D to - 20.00D and the genetic pattern is autosomal dominant. The LOD score was 〈 - 1 in all 18 microsatellite markers, indicating that there was no linkage between these markers and the high myopia related genes in this family. Conclusion A novel myopia locus for high-grade myopia may exist in the kindred. Genome-wide scan will be needed to determine this novel locus.

关 键 词：高度近视 多态性微卫星标记 常染色体显性 连锁分析 

分 类 号：R686[医药卫生—骨科学]