【摘要】 目的通过对128例Ⅱ型糖尿病(Type 2 diabetes mellitus,T2DM)患者线粒体DNA ND1基因进行突变位点筛查,探索ND1基因点突变与山西人群T2DM的相关性。方法 PCR扩增患者ND1基因所在区段,PCR产物直接测序分析。结果128例患者共有38例患者检测到基因点突变,突变检出率为29.7%。38例患者共筛出22个突变位点,2种突变类型。其中31例存在单个位点突变,5例存在2个位点突变,2例存在3个位点突变。22个突变位点中,3552(T→A)突变频率最高,为40.9%(9/22);3394(T→C)、3435(C→T)、3497(C→T)、3316(G→A)、3571(C→T)、3537(A→G)的突变频率分别为22.7%(5/22)、22.7%(5/22)、18.2%(4/22)、13.6%(3/22)、13.6%(3/22)和10.1%(2/22);其余突变位点的突变率均为4.5%(1/22)。在所有突变位点中,除3688(G→C)为异质性突变外,其余突变均为同质性。此外,22个突变位点中存在一个新的突变位点3499(A→T),属首次报道。结论 3552(T→A)和3394(T→C)突变频率最高,可能与山西地区T2DM发病相关;新发现的突变位点3499A→T(Thr→Ser),其致病性需要进一步研究。更多还原

【Abstract】 Objective:To explore the association of ND1 gene mutation points of mitochondrial DNA and the patients suffered type 2 diabetes mellitus(T2DM) in Shanxi.Methods:Polymerase chain reaction and DNA sequencing were used to screen the mutations of ND1 gene.Results:38 out of 128 patients were detected with the mutations of ND1 gene,the rate of which was 29.7%.22 mutation points and two kinds of mutations have been screened from 38 patients.Of all the patients,31 of them have single mutation,5 have two mutations,and the rest 2 cases have three mutations.Among these mutations,3552(T→A)mutation rate is 40.9%,which is the highest mutation frequency;3394(T→C),3435(C→T),3497(C→T),3316(G→A),3571(C→T)and 3537(A→G)mutation rate is 22.7%,22.7%,18.2%,13.6%,13.6% and 10.1%,respectively;the remaining cases were 4.5%.All of there mutations are homogeneity except for the mutation of the 3688(G→C),which is heterogeneity.In addition,a mutation 3499(A→T)was newly discovered from all of the 22 mutations,which was the first report.Conclusion:3552(T→A)and 3394(T→C)have the highest mutation rate,which is assumed to be associated with T2DM in Shanxi;The newly discovered mutation points,3499 A→T(Thr→Ser),of which its pathogenesis needs to be studied deeply.更多还原