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线粒体tRNA基因可能是原发性高血压发病相关的突变热点区域。文章报道了两个具有母系遗传特征的中国汉族原发性高血压家系的临床和分子遗传学特征。家系先证者和其他成员的临床数据表明,家系中母系成员高血压发病的严重程度存在差异,发病年龄也从36~79岁不等。对两个家系先证者使用24对有部分重叠的引物进行线粒体DNA全序列扩增分析,结果发现这两个先证者均携带同质性的tRNAMet/tRNAGlnA4401G和tRNACysG5821A突变,多态性变异位点都属于东亚单体型C。A4401G突变可能通过影响tRNAMet和tRNAGln前体的加工引起线粒体tRNA代谢水平的改变,而tRNACysG5821A突变位于tRNACys氨基酸受体臂,该突变使tRNACys氨基酸受体臂上原有的G6-C67配对消失,可能影响tRNACys空间结构和功能的稳定性,致使线粒体功能障碍。因此,tRNAMet/tRNAGlnA4401G和tRNACysG5821A突变可能是这两个原发性高血压家系的分子致病基础。
Mitochondrial tRNA gene may be related to the incidence of essential hypertension mutations hot spots. The article reports the clinical and molecular genetic characteristics of two Han Chinese hypertension families with maternal genetic characteristics. Family history of proband and other members of the clinical data show that the incidence of hypertension in the maternal family members there are differences in the severity of onset age also ranging from 36 to 79 years old. Two pairs of probands used two pairs of partially overlapped primers for mitochondrial DNA amplification analysis. The two probands both showed homozygous tRNAMet / tRNAGlnA4401G and tRNACysG5821A mutations. Polymorphic variants Point belongs to the East Asian haplotype C. The A4401G mutation may affect the level of mitochondrial tRNA metabolism by affecting the processing of tRNAMet and tRNAGln precursors, whereas the tRNACysG5821A mutation is located in the tRNACys amino acid acceptor arm, which results in the disappearance of the original G6-C67 pairing on the tRNACys amino acid receptor arm and may affect tRNACys Spatial structure and function of the stability, resulting in mitochondrial dysfunction. Therefore, the tRNAMet / tRNAGlnA4401G and tRNACysG5821A mutations may be the molecular basis of the two essential hypertensive pedigrees.