CAJ | 학술논문

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,GJA1 c.IVS2+1insA杂合突变3例(1.45%),c.456G>A和c.717 G>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.
목적탐토휴대GJB2기인단잡합돌변비종합정형이롱환자GJA1기인돌변정황.방법대205례GJB2단잡합돌변적비종합정형이롱환자진행GJA1외현자2직접측서,대조조위111례은력정상성년인.결과205례GJB2단잡합돌변환자중,GJA1 c.IVS2+1insA잡합돌변3례(1.45%),c.456G>A화c.717 G>A각1례,도위잡합동의돌변.111례대조조중,c.IVS2+1insA잡합돌변3례(2.70%),c.466A>G잡합돌변1례.량조c.IVS2+1insA돌변솔무명현차이(교정χ2=0.115,P=0.735>0.05).결론 GJB2단잡합돌변비종합정형이롱환자중GJA1검측미견치병돌변.
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.