先天性白内障一家系中两个β-晶体蛋白基因的突变筛查

Screening mutation of two β-crystalline genes in a pedigree with autosomal dominant congenital cataract

目的对一中国常染色体显性先天性粉尘状白内障家系进行β-晶体蛋白基因(cryba1、crybb1)的突变筛查。方法对一中国先天性白内障家系进行研究,通过直接测序,筛查此家系中全部患者的cryba1基因、crybb1基因外显子以及临近的内含子的剪接位点。结果直接测序后发现该粉尘状白内障家系cryba1基因和crybb1基因的外显子及其临近的内含子中,均未发现任何突变。结论该表型的先天性白内障家系并非是由这两个β-晶体蛋白基因突变引起。

Objective To screen mutations of two β-crystalline genes（cryba1 、crybb1）in a Chinese pedigree withautosomal dominant congenital pulverulent cataract.Methods A Chinese family with congenital cataract were studyed.The complete coding region and spliced sites of cryba1 gene and crybb1 gene were screened by direct sequencing.Results Sequence analysis proved that the coding region and splice site of cryba1 gene and crybb1 gene showed no changes.Conclusion The phenotypes of these patients are not caused by mutation of two β-crystalline genes.