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线粒体DNA突变与许多人类疾病的发病机制相关。文章报道1例典型的患有耳聋与癫痫症状的具有母系遗传特征的中国家系。该家系共3代人,其中14名母系成员中有3名耳聋患者,3名癫痫患者,而其他成员则无临床症状。线粒体全基因组序列分析表明,tRNASer(UCN)基因7472delC新突变和33个多态位点属于东亚单体型B4b1a2。7472delC突变位于tRNASer(UCN)高度保守的T-arm上。而在该区域的相同位点7472insC突变已在多个无遗传相关的家系中被发现与耳聋和癫痫相关。7472insC突变使tRNA代谢和线粒体功能产生缺陷。这样与7472insC突变相近的7472delC突变可能也会以相似机制引起线粒体功能障碍。同时,在该家系中未发现GJB2基因及其他线粒体基因突变。因此,tRNASer(UCN)7472delC可能是耳聋与癫痫相关的线粒体基因新突变。
Mitochondrial DNA mutations are associated with the pathogenesis of many human diseases. The article reports a case of a typical Chinese family with maternal hereditary deformity and epilepsy. The family has a total of three generations, of whom 14 maternal members have three deaf patients, three epilepsy patients, while the other members have no clinical symptoms. Mitochondrial whole genome sequence analysis showed that the 7472delC new tRNASer (UCN) gene mutation and 33 polymorphic loci belonging to the East Asian haplotype B4b1a2.7472delC mutation are located on the highly conserved T-arm of tRNASer (UCN). While the same site 7472insC mutation in this region has been found to be associated with deafness and epilepsy among multiple non-genetically related families. The 7472insC mutation causes defects in tRNA metabolism and mitochondrial function. This 7472delC mutation, similar to the 7472insC mutation, may also cause mitochondrial dysfunction with a similar mechanism. Meanwhile, no GJB2 gene and other mitochondrial gene mutations were found in this pedigree. Therefore, tRNASer (UCN) 7472delC may be a new mitochondrial gene mutation associated with deafness and epilepsy.