缝隙连接蛋白基因(GJA8、GJA3)在一先天性白内障家系中的突变筛查

Screening mutatinn of gap junction protein gene(gja8,gja3) in Chinese family with autosomal dominant congenital cataract

目的对一中国常染色体显性先天性白内障家系进行缝隙连接蛋白基因的突变筛查。方法通过聚合酶链反应对此先天性白内障家系中全部患者的GJA8基因、GJA3基因外显子以及邻近的内含子进行扩增,然后将扩增产物直接测序。结果在该粉尘状白内障家系GJA8基因和GJA3基因的外显子及其邻近的内含子中,均未发现任何突变。结论初步排除该先天性粉尘状白内障家系的致病基因与缝隙连接蛋白基因突变相关。

Objective To screen mutations of gap junction protein gene in a Chinese family with autosomal dominant congenital pulverulent cataract. Methods The complete coding region and intron spliced sites of GJA8 gene and GJA3 gene were amplified with polyerase chain reaction （PCR）,then we sequenced the products of PCR. Results No mutations were found in GJA8 gene and GJA3 gene in all patients of this pulverulent cataract family. Conclusion The association of gap junction protein gene with this autosomal dominant congenital pulverulent cataract was preliminary, excluded.