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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（ Ｐ Ｃ Ｒ） ，扩增ｍｔ Ｄ Ｎ Ａ 与非综合征耳聋相关位点ｎｔ１５５５ 和ｎｔ７４４５ 的区域，通过 Ｐ Ｃ Ｒ Ｓ Ｓ Ｃ Ｐ， Ｐ Ｃ Ｒ Ｒ Ｆ Ｌ Ｐ， Ｐ Ｃ Ｒ 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ｍｔ Ｄ Ｎ Ａ Ａ１５５５ Ｇ 突变，而家系中正常配偶和对照组（１００ 名正常个体） 的ｍｔ Ｄ Ｎ Ａ１５５５ 位点均无突变；该家系ｍｔ Ｄ Ｎ Ａ７４４５ 位点无突变产生。结论 提示ｍｔ Ｄ Ｎ Ａ Ａ１５５５ Ｇ 位点突变可能是导致该家系患者致聋的主要因素之一。
Objective To investigate the molecular genetics of a non-syndromic maternal genetic deafness pedigree. Methods Polymerase chain reaction (PCR) was used to amplify the regions of nt1555 and nt7445 related to non-syndromic deafness between mt D N A and PCF through P C RS S C P and P C RR F L P , P C R product cloning sequence determination techniques to conduct a systematic study of the pedigree. The results showed that all the patients in this pedigree and 4 maternal relatives had mt D N A A1555 G mutation, while there was no mutation in mt D N A1555 in the normal mate and control group (100 normal individuals). The mt D N A7445 locus without mutation. The results suggest that the mutation of mt D N A A1555 G may be one of the main factors that lead to deafness in this pedigree.