CAJ | 학술논문

目的探讨线粒体DNA ND4区12026位点及D环区16189位点的突变在云南省家族性2型糖尿病中的分布情况及临床特征.方法采用聚合酶链反应-限制性片段长度多态性的方法,并结合DNA直接测序,对203例家族性2型糖尿病患者(DM1组)和192例非家族性2型糖尿病患者(DM2组)以及175名健康对照者(NGT组)的mtDNA的ND4区12026位点及D环区16189突变位点进行筛查.结果在DM1组中检出12026(A→G)突变4例(1.97％),16189(T→C)突变66例(32.51％);DM2组中检出12026(A→G)突变10例(5.21％),16189(T→C)突变60例(31.25％);NGT组中检出12026(A→G)突变7例(4.00％),16189(T→C)突变18例(10.29％).各组间mt1200位点突变率差异无统计学意义(P＞0.05).糖尿病组(DM1 +DM2组)mt16189位点突变率(31.90％)高于正常对照组(10.29％),差异有统计学意义(P＜0.001),DM1组与DM2组之间比较差异无统计学意义(P＞0.05).DM1组中mt16189(T→C)突变阳性者与阴性患者相比,HOMA-IR水平升高,在DM2组中突变阳性者与阴性患者相比,HOMA-IR水平降低,差异均有统计学意义(P均＜0.05).结论 mtDNA12026(A→G)可能是云南地区汉族人群线粒体基因多态.mtDNA16189(T→C)与云南地区汉族人群的T2DM发病及胰岛素抵抗相关,但与糖尿病家族史无关联.
목적 탐토선립체DNA ND4구12026위점급D배구16189위점적돌변재운남성가족성2형당뇨병중적분포정황급림상특정.방법 채용취합매련반응-한제성편단장도다태성적방법,병결합DNA직접측서,대203례가족성2형당뇨병환자(DM1조)화192례비가족성2형당뇨병환자(DM2조)이급175명건강대조자(NGT조)적mtDNA적ND4구12026위점급D배구16189돌변위점진행사사.결과 재DM1조중검출12026(A→G)돌변4례(1.97％),16189(T→C)돌변66례(32.51％);DM2조중검출12026(A→G)돌변10례(5.21％),16189(T→C)돌변60례(31.25％);NGT조중검출12026(A→G)돌변7례(4.00％),16189(T→C)돌변18례(10.29％).각조간mt1200위점돌변솔차이무통계학의의(P＞0.05).당뇨병조(DM1 +DM2조)mt16189위점돌변솔(31.90％)고우정상대조조(10.29％),차이유통계학의의(P＜0.001),DM1조여DM2조지간비교차이무통계학의의(P＞0.05).DM1조중mt16189(T→C)돌변양성자여음성환자상비,HOMA-IR수평승고,재DM2조중돌변양성자여음성환자상비,HOMA-IR수평강저,차이균유통계학의의(P균＜0.05).결론 mtDNA12026(A→G)가능시운남지구한족인군선립체기인다태.mtDNA16189(T→C)여운남지구한족인군적T2DM발병급이도소저항상관,단여당뇨병가족사무관련.
Objective To explore the prevalence and clinical characteristics of mitochondrial DNA mutation at position 12026 of the ND4 gene and 16189 of D ring in familial type two diabetes mellitus in Yunnan Province.Methods Two hundred and three patients with familial type two diabetics(DM1 group),192 diabetic controls(DM2 group) and 175 healthy controls(NGT group) were recruited.Polymerase chain reaction(PCR)—restriction fragment length polymorphism(RFLP) and PCR—direct sequencing were applied to screen mtDNA mutations or variants in 12026 of the ND4 gene and 16189 of D ring.Results Four cases (1.97％) had mt12026 A→G mutation and 66 cases (32.51％) had mt16189 T→C mutation in group DM1;10 cases (5.21％) mt12026 A→G mutation and 60 cases(31.25％) had mt16189 T→C mutation in group DM2;7 cases (4.00％) had mt12026 A→G mutation and 18 cases (10.29％) had mt16189 T→Cmutation in NGT group.There were no significant differences in mutation rate of mt12026 among these groups(P＞0.05).The point mutation rate of mt16189 in DM1 and DM2 was higher than that of healthy controls(31.9％ vs.10.29％,P ＜0.01).But there was no statistically significant difference between DM1 and DM2 group (P＞0.05).Compared with the mutation mt16189 (T→C) negative,the mutation positive had elevated the level of HOMA-IR in the DM1 group.Compared with the mutation negative,the level of HOMA-IR in mutation positive had decreased in the DM2 group,and the difference was significant (P＜0.05).Conclusion mtDNA12026 (A→G) could be a mitochondrial gene polymorphism in Yunnan Han population.mtDNA16189 (T-G) associate with the prevalence of DM and insulin resistance in Chinese Han population in Yunnan area,but there is no much relationship withfamily history of diabetes.