一个常染色体显性遗传性先天性白内障家系分析

The analysis of mutations in an Chinese family with congenital cataract

目的:对1个常染色体显性遗传性先天性白内障家系进行基因突变热点的筛查,以探索其潜在的遗传学缺陷。方法:经过详细的病史采集及完善的眼科学检查后,对1个家系共10名成员(包括患者,非患者)抽取外周血提取基因组DNA,针对国内外文献报道的与常染色体显性遗传先天性白内障发病相关的10个基因设计引物,PCR扩增后直接测序进行候选基因的突变检测。结果:被检查者的10个发病相关基因序列中,CRYBA4基因第四个外显子上c.281T>C突变,并由此导致了βA4晶状体蛋白第94位的苯丙氨酸被丝氨酸取代,其余9个与Gen Bank发表的正常序列相同。结论:CRYBA4基因外显子上发现的已经报道过的杂合型突变位点,可能是这个家系的致病基因,其对先天性白内障的作用需进一步研究。

Objective： To identify mutations in an Chinese family with congenital cataract.Methods： Venous blood was collected from family members to extract DNA.Ten different genes were identified as the cause of autosomal congenital nuclear cataract,which were screened by PCR amplification and sequencing.Results： We identified a c.281 T C sequence change which led to an amino acid substitutions in the CRYBA4 induced protein in the three patients of this family,and did not detect in the other individuals.Conclusion： One mutation iss discovered,while further study is required to determine the effect of congenial cataract.