摘要
用基因诊断技术在２０７例无亲缘关系的非胰岛素依赖型糖尿病（ＮＩＤＤＭ）患者中，筛查线粒体ｔＲＮＡＬｅｕ（ＵＵＲ）基因突变糖尿病，２例基因诊断阳性。本病在具不常见临床表现的ＮＩＤＤＭ亚群中占２．４％～１１．１％。对２例阳性者的家系进行临床及基因分析，检测２５个家系成员中，１０个基因诊断阳性。提出对于起病早、对口服降糖药继发失效需改用胰岛素治疗、有胰岛β细胞功能明显减退、消瘦、神经性耳聋、有糖尿病及／或听力障碍家族史且符合或不能除外母系遗传一种或多种情况的ＮＩＤＤＭ者应疑及本病。可用方法简便、易于判断的等位基因特异引物扩增（ＡＳＰＡ）或ＰＣＲ２０６ｂｐ／ＡｐａＩ或ＨａｅⅢ技术进行临床基因诊断。
Mitochondrial tRNA Leu(UUR) gene mutation diabetes was screened among 207 unrelated non-insulin-dependent diabetes mellitus (NIDDM) patients by using genetic diagnosis. Positive results were found in two subjects, which accounted for 2.4% ￣ 11. 1% of NIDDM subjects with uncommon clinical features, Genetic and clinical analyses were performed in family members of these two probands. Genetic diagnosis was positive in 10 out of 25 family members in these two pedigrees. We propose that the possibility of having mitochondrial tRNALeu(UUR) gene mutation should be considered in NIDDM patients with one or more of the following features: patients with early-onset; with low bodymass-index; changing to insulin therapy due to secondary failure to oral hypoglycemic agents; with marked decrease in islet βcell function; with associated sensorineural deafness; and/or with family history of diabetes and/or deafness consistent with or unable to exclude maternal inheritance, The genetic diagnosis in daily clinical practice can be performed with allele specific priming amplication, or PCR/Hae Ⅲor Apa I digestion which are technically simple to perform and diagnostically easy to define.
出处
《中国糖尿病杂志》
CAS
CSCD
1995年第3期129-135,共7页
Chinese Journal of Diabetes
关键词
线粒体
基因突变
糖尿病
基因诊断
Mitochondrial tRNA￣(Leu(UUR)) gene Gene mutation Genetic diagnosis
