国际泌尿系统杂志
國際泌尿繫統雜誌
국제비뇨계통잡지
INTERNATIONAL JOURNAL OF UROLOGY AND NEPHROLOGY
2014年
2期
171-175
,共5页
糖尿病肾病%多态现象,遗传
糖尿病腎病%多態現象,遺傳
당뇨병신병%다태현상,유전
Diabetic Nephropathes%Polymorphism,Genetic
目的 研究亚甲基四氢叶酸还原酶(MTHFR)基因多态性与2型糖尿病肾病(DN)易感性的关系.方法 选择111例山西地区汉族人2型糖尿病患者,其中糖尿病肾病(DN+)组56例,糖尿病非肾病(DN-)组55例,运用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)技术并结合琼脂糖凝胶电泳的方法检测111例患者的MTHFR基因多态性,测定各组间基因型频率和等位基因频率.结果 纯合基因型TT、T等位基因在DN+组(21.43％,46.43％)的频率均明显高于DN-组(7.27％,29.09％),差异均具有统计学意义(P＜0.05).无论是在DN+组还是DN-组中,TT基因型患者血同型半胱氨酸(Hcy)平均水平均大于CC基因型和CT基因型患者,DN+组血浆Hcy水平明显高于DN-组,差异均具有统计学意义(P＜0.05).在叶酸浓度≤6.92nmol/L时,DN+组(24.24％,48.49％) TT型发生率及T等位基因频率明显高于DN-组(3.70％,25.93％)(P＜0.05),当叶酸浓度＞6,92nmol/L时,DN+组TT型发生率及T等位基因频率与DN-组无差异(P＞0.05).结论 MTHFR基因C677T多态性与糖尿病肾病(DN)发生具有相关性,突变的T等位基因是DN易感基因,但其影响效果受叶酸浓度的影响.
目的 研究亞甲基四氫葉痠還原酶(MTHFR)基因多態性與2型糖尿病腎病(DN)易感性的關繫.方法 選擇111例山西地區漢族人2型糖尿病患者,其中糖尿病腎病(DN+)組56例,糖尿病非腎病(DN-)組55例,運用聚閤酶鏈式反應-限製性片段長度多態性(PCR-RFLP)技術併結閤瓊脂糖凝膠電泳的方法檢測111例患者的MTHFR基因多態性,測定各組間基因型頻率和等位基因頻率.結果 純閤基因型TT、T等位基因在DN+組(21.43％,46.43％)的頻率均明顯高于DN-組(7.27％,29.09％),差異均具有統計學意義(P＜0.05).無論是在DN+組還是DN-組中,TT基因型患者血同型半胱氨痠(Hcy)平均水平均大于CC基因型和CT基因型患者,DN+組血漿Hcy水平明顯高于DN-組,差異均具有統計學意義(P＜0.05).在葉痠濃度≤6.92nmol/L時,DN+組(24.24％,48.49％) TT型髮生率及T等位基因頻率明顯高于DN-組(3.70％,25.93％)(P＜0.05),噹葉痠濃度＞6,92nmol/L時,DN+組TT型髮生率及T等位基因頻率與DN-組無差異(P＞0.05).結論 MTHFR基因C677T多態性與糖尿病腎病(DN)髮生具有相關性,突變的T等位基因是DN易感基因,但其影響效果受葉痠濃度的影響.
목적 연구아갑기사경협산환원매(MTHFR)기인다태성여2형당뇨병신병(DN)역감성적관계.방법 선택111례산서지구한족인2형당뇨병환자,기중당뇨병신병(DN+)조56례,당뇨병비신병(DN-)조55례,운용취합매련식반응-한제성편단장도다태성(PCR-RFLP)기술병결합경지당응효전영적방법검측111례환자적MTHFR기인다태성,측정각조간기인형빈솔화등위기인빈솔.결과 순합기인형TT、T등위기인재DN+조(21.43％,46.43％)적빈솔균명현고우DN-조(7.27％,29.09％),차이균구유통계학의의(P＜0.05).무론시재DN+조환시DN-조중,TT기인형환자혈동형반광안산(Hcy)평균수평균대우CC기인형화CT기인형환자,DN+조혈장Hcy수평명현고우DN-조,차이균구유통계학의의(P＜0.05).재협산농도≤6.92nmol/L시,DN+조(24.24％,48.49％) TT형발생솔급T등위기인빈솔명현고우DN-조(3.70％,25.93％)(P＜0.05),당협산농도＞6,92nmol/L시,DN+조TT형발생솔급T등위기인빈솔여DN-조무차이(P＞0.05).결론 MTHFR기인C677T다태성여당뇨병신병(DN)발생구유상관성,돌변적T등위기인시DN역감기인,단기영향효과수협산농도적영향.
Objectives To investigate the association between MTHFR gene polymorphism and the susceptibility to DN in type 2 diabetes mellitus.Methods 120 type 2 diabetes mellitus in the Shanxi Han Chinese,60 with type 2 diabetic nephropathy(DN +),60 without nephropathy but type 2 diabetes(DN-),were selected to join in the study.The polymorphism of MTHFR was assayed by PCR-RFLP and agarose gel electrophoresis method,and then allele frequencies and genotype frequencies statistically computed.Results The frequency of MTHFR TT homogenetic type and CT heterogenetic type and allele Twas significant higher in DN(+) (21.43％,46.43％)than DN(-) (7.27％,29.09％),and the differences was significantly(P ＜0.05).No matter in group DN(+) or DN (-) group,the TT genotype average level of Hcy was greater than the CC genotype and CT genotype.Plasma level of Hcy in DN(+) was significantly higher than that in DN(-),and the differences was significantly.In subject with serum folate ≤6.92,the frequency genotype TT and frequency T of DN (+) (24.24％,48.49％) was higher than that of DN (-) (3.70％,25.93 ％) (P ＜ 0.05).Among subject with serum folate ＞ 6.92,genotype and allele distribution was not different from the DN (-) (P ＞ 0.05).Conclusions In type 2 DM of Han nationality in Shanxi China,MTHFR gene C677T mutation was associated with diabetic nephropathy,and the allele T might be a susceptible gene of diabetic nephropathy.But influenced by folate concentration.
