耳聋-掌跖皮肤角化征家系GJB2基因突变分析

Analysis of The Mutation in GJB2 Gene in A Family with Deafness and Palmoplantar Keratoderma

目的 观察耳聋-掌跖皮肤角化(PPK)综合征家系GJB2、GJB3和GJB6基因突变情况,探讨其基因型、表型和遗传学特征。方法 收集1例耳聋-掌跖皮肤角化征家系中先证者和部分亲属的临床资料,采集其外周血样本,并提取DNA。应用聚合酶链反应(PCR)扩增GJB2、GJB3和GJB6基因编码区,并以直接测序法进行突变分析;同时选取126人作为正常对照组。结果 先证者和父亲均携带GJB2基因R75W杂合突变,而GJB3和GJB6基因未见致病突变。正常对照组中未检测出R75W突变。结论 再次在中国人耳聋-掌跖皮肤角化征家系中发现GJB2基因R75W杂合突变,进一步验证了该突变可能是导致疾病发生的原因。R75W可能以显性方式由亲代遗传至子代,基因检查结果可为进一步生育指导提供帮助。

Objective To observe the genotype, phenotype and genetic features, the mutations in GJB2, GJB3 and GJB6 genes in a Chinese family with deafness and palmoplantar keratoderma（PPK） were tested. Methods Blood samples and clinical data of the proband and her partial family members from a deafness-PPK family were collected. DNA was extracted from the blood samples. The GJB2, GJB3 and GJB6 gene mutations were analyzed by polymerase chain reaction（PCR） and direct sequencing. Meanwhile, 126 normal controls were collected. Results Heterozygous mutation GJB2 R75W was identified in the proband and her father. No mutation of GJB3 and GJB6 genes was detected. No R75W mutation was detected in normal controls. Con- clusion The heterozygous R75W mutation of the GJB2 gene was identified in a Chinese family with deaf- ness-PPK that would be the evidence for that the mutation was possible to be the reason for the disease. Chil- dren can inherit the R75W mutation in a dominant mode from their parents, so the results of gene testing will be helpful for further guidance of procreation.