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| 湖北土家族氨基糖甙类抗生素致聋患者的mtDNA1555位突变检测 | |
| 引用本文： | 傅四清,陈观明,胡晓峰,吴承刚. 湖北土家族氨基糖甙类抗生素致聋患者的mtDNA1555位突变检测[J]. 中国优生与遗传杂志, 2000, 8(5): 13-11 |
| 作者姓名： | 傅四清 陈观明 胡晓峰 吴承刚 |
| 作者单位： | 1. 同济医科大学医学遗传学研究室武汉，430030 2. 同济医科大学附属同济医院耳鼻喉科 3. 湖北省恩施市医院耳鼻喉科 |
| 摘 要： | 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，采用外周血作ＰＣＲ－ＲＦＬＰ分析，对照组为当地２０例正常土家族人。研究发现：４８例ＡＡＩＤ患者中，６例具有ｍｔＤＮＡ１５５５Ｇ均质性突变。１０例具有异质性突变，而对照组均无此空谈。本文首次报道了该位点的异质性突变。 |
| 关 键 词： | 氨基糖甙类抗生素致聋 线粒体DNA 异质性 突变 |
| 修稿时间： | 2000-01-15 |
Detecting the mutation of mtDNA at nt1555 in 48 parients of Hubei Tujia nationality with AAID |
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| Fu Siqing,et al.. Detecting the mutation of mtDNA at nt1555 in 48 parients of Hubei Tujia nationality with AAID[J]. Chinese Journal of Birth Health & Heredity, 2000, 8(5): 13-11 | |
| Authors: | Fu Siqing et al. |
| Abstract: | 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. |
| Keywords: | Aminoglycoside antibiotics induced deafness (AAID) Mitochondrial DNA Heteroplasmy Mutation |
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