晶状体蛋白βB2基因突变导致常染色体显性遗传先天性白内障

目的定位常染色体显性遗传先天性粉尘状核性白内障一家系的致病基因。方法收集该家系资料,针对与常染色体显性遗传先天性白内障发病相关的14个热点致病基因设计引物,对此4代先天性白内障家系进行热点突变位点的分析,了解是否有相应的改变。结果此家系患者编码人类晶状体蛋白的基因βB2的第6外显子存在一个C→T突变,此突变导致终止密码子提前出现。该基因的第2外显子的第40个核苷酸存在A/T的单核苷酸多态性。结论编码人类晶状体蛋白的基因βB2是此先天性白内障家系的致病基因。

Mutation of BB2 crystallin gene related to autosomal dominant congenital cataract

Objective To map the virulence genes of autosomal dominant congenital dusty nuclear cataract in a family.Methods Blood samples were collected from 4 generations of this family,and gene analysis was carried out in these samples referring to the hot spots of 14 genes causing autosomal dominant congenital cataract in previous reports.Results Mutation of BB2 crystallin(CRYBB2)gene was identified in exon 6 for C to T,which induced anticipation of nonsense codon.Polymorphism of mononucleotide was identified in the 40th nucleotide of exon 2 as analyzing CRYBB2 gene.Conclusion CRYBB2 gene is the virulence gene in this family.