常染色体显性遗传病理性近视家系基因定位分析

Analysis of gene mapping for one family with autosomal dominant high myopia

目的:通过基因连锁定位分析,探讨原发性病理性近视家系的致病基因与最近报道的病理性近视相关连锁位点15q14、15q25的关系。方法:选择一个连续3代发病的常染色体显性遗传高度近视(ADHM)家系,在15q14、15q25这2个2010年新报道的病理性近视致病基因连锁位点上下游各选取4个多态性微卫星标记物STR进行基因分型,采用两点法进行连锁分析。结果:分析显示在15q14区域内marker D15S165其LOD值为1.42,其附近marker连锁分析结果LOD值均>0。结论:该家系可能存在与15q14的连锁,需选取密度更高的marker或对此区域内眼部功能相关基因进行测序,以确定该家系致病基因的染色体定位。

Objective：To investigate whether there are linkage in chromosome 15q 14 and 15q25 in a Chinese family with autosomal dominant high myopia.Methods：A family with autosomal dominant high myopia in three generations was collected.Eight short-tandem-repeat markers on loci 15q14 and 15q25 reported recently linked to high myopia were chosen for genotyping and the two-point linkage analysis was carried out.Results：The maximum LOD score was 1.42 with the marker D15S165 at a recomination fraction of 0.00,indicating that there was 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 this kindred in chromosome 15q14.Genome-wide scan or sequencing of genes related to eyes will be needed to determine this novel locus.