角膜炎鱼鳞病耳聋综合征的GJB2基因突变的研究

目的对国内首例先天性角膜炎.鱼鳞病.耳聋综合征(KID)的GJB2基因和GJB6基因突变检测。方法提取KID综合征患者及家族成员的基因组DNA,采用聚合酶反应扩增GJB2基因和GJB6基因所有的外显子及其邻近的剪切点并进行双向直接测序。结果KID综合征患者的GJB6基因未见变化,GJB2基因核苷酸序列第148位碱基由G突变成A,位于GJB2基因的外显子2中,GJB2基因编码的连接蛋白第50位的天冬氨酸转换成天冬酰胺(D50N)突变。结论GJB2基因突变是导致汉族人发生角膜炎.鱼鳞病.耳聋综合征的致病基因。

Mutation analysis of GJB2 gene in keratitis ichthyosis deafness syndrome

Objective To detect mutations of GJB2 and GJB6 in the first case in China with keratitis,ichthyosis and deafness(KID) syndrome.Methods All coding exons and adjacent splice sites of the GJB2 and GJB6 genes from the patient with KID syndrome and their family members were amplified by polymerase chain reaction(PCR).Mutations scanning were carried out by DNA sequencing.Results There were no mutations in GJB6.The mutation of GJB2 was a G/A transition in exon 2 at position 148(codon 50),which transformed an aspartic acid to asparagines in the patient with KID.Conclusions The mutation of GJB2 caused KID in Chinese people.