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目的从临床、遗传和分子特征等方面对1个携带tRNAHis12192G>A突变的非综合征型耳聋(NSHL)家系进行研究,探讨线粒体tRNAHis12192G>A突变在NSHL中的作用。方法扩增572例NSHL患者和521例健康者GJB2、GJB3、GJB6基因编码区,以及线粒体12SrRNA和tRNA基因,对携带tRNAHis12192G>A突变的1个家系进行GJB2、GJB3、GJB6、线粒体基因相关分析。结果在572例NSHL患者中发现1例线粒体tRNAHis12192G>A突变携带者。该患者及其家族成员具有典型母系遗传特征,未检出GJB2、GJB3、GJB6基因致病突变。在患者家系成员中,母系成员13人,其中7人存在不同程度的听力损失。结论 tRNAHis12192G>A突变可能是该NSHL家系成员罹患耳聋的主要分子基础。家系成员发病程度、发病年龄等表型存在一定的差异,可能与环境因素以核基因背景等有关。
Objective To investigate the role of tRNAHis12192G> A mutation in NSHL from a pedigree of non-syndromic deafness (NSHL) carrying tRNAHis12192G> A mutation from clinical, genetic and molecular aspects. Methods GJB2, GJB3 and GJB6 gene coding regions and mitochondrial 12S rRNA and tRNA genes were amplified from 572 NSHL patients and 521 healthy controls. GJB2, GJB3, GJB6 and mitochondrial genes were analyzed in a pedigree carrying tRNAHis12192G> A mutation. Results One case of mitochondrial tRNAHis12192G> A mutation was found in 572 NSHL patients. The patient and its family members have the typical maternal genetic characteristics, did not detect GJB2, GJB3, GJB6 gene mutation. Among the pedigree members, 13 maternal members, of whom 7 had varying degrees of hearing loss. Conclusion The tRNAHis12192G> A mutation may be the main molecular basis of deafness in this NSHL family member. Family members of the incidence, age of onset and other phenotypic differences exist, and environmental factors may be related to the nuclear gene background.