角膜炎、鱼鳞病、耳聋综合征的GJB2基因突变研究

目的 检测国内首例先天性角膜炎、鱼鳞病、耳聋综合征(KID)患者的GJB2基因和GJB6基因突变.方法 提取KID综合征患者及家族成员的基因组DNA,采用聚合酶链反应扩增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exon2第148位碱基由G突变成A,导致蛋白第50位的天冬氨酸转换成天冬酰胺(D50N).结论 GJB2基因突变可能是本例角膜炎、鱼鳞病、耳聋综合征的致病基因.

The mutation of GJB2 gene in keratitis-ichthyosis-deafness syndrome

Objective To detect the mutations of GJB2 and GJB6 genes in the first Chinese case of keratitis, ichthyosis and deafness (KID) syndrome. Methods Genomic DNA was extracted from the patient with KID syndrome and his family members. All encoding exons and adjacent splice sites of the GJB2 and GJB6 genes were amplified by PCR. Mutation scanning was carried out by direct bidirectional DNA sequencing. Results No mutation was found in GJB6. A G148A mutation was found at exon2 of GJB2 in the patient, which caused a change from aspartic acid to asparagine at codon 50(D50N). Conclusion This case of KID syndrome may be caused by the mutation in GJB2.