赤峰地区早发家族性糖尿病与线粒体基因突变资料的分析

Mitochondrial DNA mutation in early-onset familial diabetes patients in Chifeng area

目的分析内蒙古赤峰地区早发家族性糖尿病人群线粒体糖尿病基因筛查资料。方法收集2008年8月-2017年9月内蒙古赤峰市肿瘤医院糖尿病家系库中70例早发2型糖尿病家系先证者的临床资料以及外周血标本。采用PCR扩增方法,对先证者进行线粒体糖尿病基因筛查,分析基因位点变异与临床特点、并发症以及伴发疾病的关系。结果70例中男性38例,女性32例,发现线粒体基因位点突变21例,突变率为30%(21/70),其中男性突变率为28.94%(11/38),女性突变率为31.25%(10/32),差异无统计学意义(χ~2=0.165,P=0.685)。线粒体基因3243附近位点突变有3141、3174、3203、3207、3317、3337、3338、3353、3395、3399、3435、3439、3524、3552,两个位点同时突变有3203伴3552、3204伴3353、3174伴3317。随访持续9个月,入组70例中,1例死亡(线粒体基因位点突变者),11例脱落,剩余58例分为线粒体基因突变组(n=20)和线粒体基因非突变组(n=38)。线粒体基因突变组中合并血脂异常占5%(1/20),非突变组中合并血脂异常占76%(29/38),差异有统计学意义(P=0.000)。两组其他伴发疾病发生率差异无统计学意义(P>0.05)。结论本研究发现早发家族性糖尿病患者中30%可检出线粒体基因突变,并检出了本地区常见的线粒体基因3243附近的突变位点。

Objective To analyze the screening results of mitochondrial diabetes mellitus genes in early-onset familial diabetes in Chifeng,Inner Mongolia.Methods The clinical data and peripheral blood samples of 70 probands of early-onset type 2 diabetes mellitus in Chifeng Tumor Hospital,Inner Mongolia from August 2008 to September 2017 were collected.PCR amplification was used to screen the genes of the mitochondrial diabetes in probands,and the relationship between the gene site variations and clinical characteristics,complications and comorbidity was analyzed.Results Of the 70 cases,38 cases were male and 32 cases were female.Mitochondrial DNA mutation was found in 21 cases,with the mutation rate of 30%(21/70),and it was 28.94%(11/38)in male and 31.25%(10/32)in female,showing no significant difference(P=0.685).The mutations near nucleotide position 3243 located at 3141,3174,3203,3207,3317,3337,3338,3353,3395,3399,3435,3439,3524,3552,and simultaneously mutated positions were found in 3203 and 3552,3204 and 3353,3174 and 3317.The follow-up was lasted for 9 months.Of the 70 cases,1 case died and 11 cases were lost to follow-up;the other 58 cases were divided into gene mutation group(n=20)and non-mutation group(n=38).Dyslipidemia was found in 5%cases(1/20)in the gene mutation group,and 76%cases(29/38)in the non-mutation group,the difference was statistically significant(P=0.000).There was no significant difference in the other comorbidity between the two groups.Conclusion Mitochondrial DNA mutation is found In 30%of early-onset familial diabetes patients in Chifeng area.And our study has screend out the common mutation sites near nucleotide position 3243.