一个母系遗传非综合征耳聋大家系及mtDNA12SrRNA基因突变研究

被引：3

作者：

严明

刘宁生

单祥年

邢光前

卜行宽

武景阳

杨焕明

机构：

[1] 南京师范大学生物系

[2] 南京铁道医学院生物教研室

[3] 江苏省人民医院耳鼻喉科

[4] 中国科学院遗传所人类基因研究中心

来源：

中华医学遗传学杂志 | 1999年 / 05期

关键词：

母系遗传非综合征耳聋; 线粒体DNA; 点突变; 聚合酶链反应;

D O I：

暂无

中图分类号：

R764.43 [耳聋];

学科分类号：

摘要：

目的　对一个非综合征母系遗传耳聋大家系的分子遗传学进行探讨。方法　采用聚合酶链反应（ＰＣＲ），扩增ｍｔＤＮＡ与非综合征耳聋相关位点ｎｔ１５５５和ｎｔ７４４５的区域，通过ＰＣＲＳＳＣＰ，ＰＣＲＲＦＬＰ，ＰＣＲ产物克隆序列测定等技术对该家系进行了系统研究。结果　发现该家系中全部患者和４个母系亲属有ｍｔＤＮＡＡ１５５５Ｇ突变，而家系中正常配偶和对照组（１００名正常个体）的ｍｔＤＮＡ１５５５位点均无突变；该家系ｍｔＤＮＡ７４４５位点无突变产生。结论　提示ｍｔＤＮＡＡ１５５５Ｇ位点突变可能是导致该家系患者致聋的主要因素之一。

引用

页码：48 / 51

页数：4

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