糖尿病伴耳聋患者四例临床及线粒体基因分析

Clinical and mitochondrial gene analysis in 4 cases of diabetes patients with deafness

目的对4例2型糖尿病伴耳聋患者行线粒体基因测序,明确线粒体基因与临床表型之间的关系。方法对山东省内分泌与代谢病医院2014至2015年期间收治的4例有母系遗传糖尿病家族史伴耳聋的2型糖尿病患者进行研究,用聚合酶链反应对线粒体3069~3842片段进行直接测序,有突变或有意义者行线粒体全基因(除D环区外)测序,以明确是否有线粒体基因突变。结果在1例患者中发现有T3535C同义突变,由稀有密码子突变为常用密码子。对此患者进一步行线粒体全基因测序(除D环区外),发现G9053A、T10609C、C10920T、G13759A、G13928C、A15326G共6个错义突变。结论本研究发现了6个线粒体错义突变,其中C10920T突变与患者母系遗传糖尿病伴耳聋临床表型相关。

Objective Mitochondrial DNA sequencing was performed on 4 patients with type 2 diabetes and deafness,to clarity the relationship between the mitochondrial genes and clinical phenotype.Methods 4 cases deaf patients with a maternal inherited family history of type 2 diabetes were collected in Shandong endocrine and metabolic disease hospital from 2014 to 2015 in this study.Polymerase chain reaction was used to direct sequencing of mitochondrial 3069-3842 fragment.There were mutations or significance performed whole mitochondrial DNA sequencing(except for the D loop region),to determine if there were mutations in the mitochondrial gene.Results In 1 case,there was a T3535 C synonymous mutation,which was frequent codons changed to rare codons,performed its case for the whole mitochondrial DNA sequence,a total of 6 missense mutations:G9053 A,T10609 C,C10920 T,G13759 A,G13928 C,A15326 G were found in this study.Conclusions This study found 6 missense mutations in the mitochondria,the C10920 T mutations was associated with the clinical phenotype of patient with maternal inherited diabetes and deafness.