CAJ | 학술논문

目的两个线粒体突变3243A→G和3316G→A已经被报道发现在糖尿病患者中,本研究旨在调查这个可能的糖尿病相关区域3116→3353在中国人二型糖尿病中的角色. 方法应用聚合酶链反应,直接的DNA测序,限制性长度片段多态性和等位特异聚合酶链反应等方法筛查277个二型糖尿病患者和241个正常对照的线粒体目的基因区域.对检出的序列改变进行Fisher精确统计分析,并应用RNA折叠软件mfold预测16S rRNA基因区域的变异所引起的最小自由能二级结构改变以确定其功能意义.结果检出4个同质体碱基取代:3200T→C, 3206C→T, 3290T→C and 3316G→A .其中3200T→C 只出现在患者中,另外三个在患者和正常人中均有检出,统计分析显示其频率的不同无显著意义.3200T→C和3206C→T位于16S rRNA,为该研究首次检出,前者引起了最小自由能二级结构模型的极大改变,而后者几乎没有引起结构变化.结论本结果建议3200T→C与二型糖尿病的发展相关,而其他几种变异的影响是中性的.不同于日本人的研究,3316C→T与二型糖尿病无关.
목적량개선립체돌변3243A→G화3316G→A이경피보도발현재당뇨병환자중,본연구지재조사저개가능적당뇨병상관구역3116→3353재중국인이형당뇨병중적각색. 방법응용취합매련반응,직접적DNA측서,한제성장도편단다태성화등위특이취합매련반응등방법사사277개이형당뇨병환자화241개정상대조적선립체목적기인구역.대검출적서렬개변진행Fisher정학통계분석,병응용RNA절첩연건mfold예측16S rRNA기인구역적변이소인기적최소자유능이급결구개변이학정기공능의의.결과검출4개동질체감기취대:3200T→C, 3206C→T, 3290T→C and 3316G→A .기중3200T→C 지출현재환자중,령외삼개재환자화정상인중균유검출,통계분석현시기빈솔적불동무현저의의.3200T→C화3206C→T위우16S rRNA,위해연구수차검출,전자인기료최소자유능이급결구모형적겁대개변,이후자궤호몰유인기결구변화.결론본결과건의3200T→C여이형당뇨병적발전상관,이기타궤충변이적영향시중성적.불동우일본인적연구,3316C→T여이형당뇨병무관.
Objective To investigate the role of a potential diabetes-related mitochondrial region, w hich includes two previously reported mutations, 3243AG and 3316GA, in Chine se patients with adult-onset type 2 diabetes.Methods A total of 277 patients and 241 normal subjects were recruited for the study. M itochondrial nt 3116-3353, which spans the 16S rRNA, tRNAleu(UUR) and the NADH dehydrogenase 1 gene, were detected using polymerase chain reaction (PCR), direct DNA sequencing, PCR-restriction fragment length p olymorphism and allele-specific PCR. Variants were analyzed by two-tailed Fis her exact test. The function of the variants in 16S rRNA were predicted for mi nimal free energy secondary structures by RNA folding software mfold version 3.