携带GJB2单杂合突变非综合征型耳聋患者GJA1突变分析

GJA1 Gene Mutation in Patients with Nonsyndromic Deafness and Monoallelic GJB2 Gene Mutations

目的探讨携带GJB2基因单杂合突变非综合征型耳聋患者GJA1基因突变情况。方法对205例GJB2单杂合突变的非综合征型耳聋患者进行GJA1外显子2直接测序,对照组为111例听力正常成年人。结果 205例GJB2单杂合突变患者中,GJA1c.IVS2+1insA杂合突变3例(1.45%),c.456G>A和c.717G>A各1例,都为杂合同义突变。111例对照组中,c.IVS2+1insA杂合突变3例(2.70%),c.466A>G杂合突变1例。两组c.IVS2+1insA突变率无明显差异(校正χ2=0.115,P=0.735>0.05)。结论 GJB2单杂合突变非综合征型耳聋患者中GJA1检测未见致病突变。

Objective To evaluate GJA1 gene mutations in patients with nonsyndromic hearing loss and monoallelic mutations of the GJB2 gene. Methods We sequenced the entire coding region of the GJA1 gene in 205 nonsyndromic hear？ing-impaired patients carrying a GJB2 gene mutation and in 111 individuals with normal hearing as the control group. Results Five of the 205 patients were found having monoallelic GJA1 gene mutations, 3 （1.45%） having c.IVS2＋1insA mu？tations, 1 having c.456G〉A mutation, and 1 having c.717 G〉A mutation. Four of the control group were found having mono？allelic GJA1 gene mutations, 3 （2.70%） having c.IVS2＋1insA mutations, and 1 having 466A〉G mutation. No significant dif？ference in the c.IVS2＋1insA mutation rate was found between the two groups （continuity correctionχ2=0.115, P=0.735〉0.05）. Conclusion Patients with nonsyndromic hearing loss and monoallelic GJB2 gene mutations do not appear to have pathologic mutations.