湖北土家族氨基糖甙类抗生素致聋患者的mtDNA1555位突变检测

Detecting the mutation of mtDNA at nt1555 in 48 patients of Hubei Tujia nationality with AAID.

为进一步证明遗传因素在氨基糖甙类抗生素致聋 (AAID)发生中的作用 ,探讨该病的发病机理 ,我们通过问卷调查湖北恩施市聋校学生及恩施市医学部分散发病例 ,对确诊为AAID的 48例患者 ,采外周血作PCR RFLP分析 ,对照组为当地 2 0例正常土家族人。研究发现 :48例AAID患者中 ,6例具有mtDNA15 5 5G均质性突变 ,10例具有异质性突变 ,而对照组均无此突变。本文首次报道了该位点的异质性突变。

To confirm the effect of genetic susceptibility to aminoglycoside ototoxicity and assess the freqency of this mutation ,we have screened for the A1555G mutation in 48 patients of Tujia nationality with AAID by PCR-RFLP. The controls for molecular analysis of this mutation were 20 normal subjects from the local population .The results show that six individuals carried homoplasmic S1555G mutation ,ten individuals harbored heteroplasmic,the other patients and the controls did not have this mutation .This is the first report of heteroplasmy in patients with AAID with the A1555G mutation.