中华检验医学杂志
中華檢驗醫學雜誌
중화검험의학잡지
CHINESE JOURNAL OF LABORATORY MEDICINE
2015年
4期
243-246
,共4页
王贤军%罗丽%王莉%梅瑾%陈岳明
王賢軍%囉麗%王莉%梅瑾%陳嶽明
왕현군%라려%왕리%매근%진악명
流产,习惯性%5,10-亚甲基四氢叶酸还原酶%基因型%多态性,限制性片段长度%聚合酶链反应
流產,習慣性%5,10-亞甲基四氫葉痠還原酶%基因型%多態性,限製性片段長度%聚閤酶鏈反應
유산,습관성%5,10-아갑기사경협산환원매%기인형%다태성,한제성편단장도%취합매련반응
Abortion,habitual%5,10-Methylenetetrahydrofolate reductase%Genotype%Polymorphism,restriction fragment length%Polymerase chain reaction
目的 探讨5,10-亚甲基四氢叶酸还原酶(MTHFR) 677 C＞T多态性与不明原因复发性流产(URPL)的关系.方法 采用病例-对照研究,2013年1月至2014年5月在杭州市第一人民医院遗传咨询门诊就诊的孕妇为对象,随机数表法选取杭州地区125例有≥2次URPL史孕妇为病例组,905例无流产史的健康经产妇女为对照组.MTHFR 677 C＞T基因型及等位基因频率分布采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)检测,并对部分结果行基因芯片和直接测序验证;比较病例组与对照组基因型、等位基因频率分布,分析MTHFR 677 C＞T多态性与URPL的关系.结果 MTHFR 677 C＞T等位基因和基因型频率在病例组分布分别为C(60％)、T(40％)、CC (32.0％)、CT (56.0％)和TT (12.0％),在对照组分别为C(67.4％)、T(32.6％)、CC (41.4％)、CT (52.0％)和TT(6.6％);T等位基因在病例组分布频率高于对照组(OR=1.379,95％ CI=1.051～1.808,P=0.020),病例组TT基因型分布显著高于对照组(OR =2.344,95％CI=1.220～4.503,P=0.009).结论 杭州地区育龄女性携带MTHFR 677T等位基因及TT基因型可能为URPL的危险因素.
目的 探討5,10-亞甲基四氫葉痠還原酶(MTHFR) 677 C＞T多態性與不明原因複髮性流產(URPL)的關繫.方法 採用病例-對照研究,2013年1月至2014年5月在杭州市第一人民醫院遺傳咨詢門診就診的孕婦為對象,隨機數錶法選取杭州地區125例有≥2次URPL史孕婦為病例組,905例無流產史的健康經產婦女為對照組.MTHFR 677 C＞T基因型及等位基因頻率分佈採用聚閤酶鏈反應-限製性片段長度多態性(PCR-RFLP)檢測,併對部分結果行基因芯片和直接測序驗證;比較病例組與對照組基因型、等位基因頻率分佈,分析MTHFR 677 C＞T多態性與URPL的關繫.結果 MTHFR 677 C＞T等位基因和基因型頻率在病例組分佈分彆為C(60％)、T(40％)、CC (32.0％)、CT (56.0％)和TT (12.0％),在對照組分彆為C(67.4％)、T(32.6％)、CC (41.4％)、CT (52.0％)和TT(6.6％);T等位基因在病例組分佈頻率高于對照組(OR=1.379,95％ CI=1.051～1.808,P=0.020),病例組TT基因型分佈顯著高于對照組(OR =2.344,95％CI=1.220～4.503,P=0.009).結論 杭州地區育齡女性攜帶MTHFR 677T等位基因及TT基因型可能為URPL的危險因素.
목적 탐토5,10-아갑기사경협산환원매(MTHFR) 677 C＞T다태성여불명원인복발성유산(URPL)적관계.방법 채용병례-대조연구,2013년1월지2014년5월재항주시제일인민의원유전자순문진취진적잉부위대상,수궤수표법선취항주지구125례유≥2차URPL사잉부위병례조,905례무유산사적건강경산부녀위대조조.MTHFR 677 C＞T기인형급등위기인빈솔분포채용취합매련반응-한제성편단장도다태성(PCR-RFLP)검측,병대부분결과행기인심편화직접측서험증;비교병례조여대조조기인형、등위기인빈솔분포,분석MTHFR 677 C＞T다태성여URPL적관계.결과 MTHFR 677 C＞T등위기인화기인형빈솔재병례조분포분별위C(60％)、T(40％)、CC (32.0％)、CT (56.0％)화TT (12.0％),재대조조분별위C(67.4％)、T(32.6％)、CC (41.4％)、CT (52.0％)화TT(6.6％);T등위기인재병례조분포빈솔고우대조조(OR=1.379,95％ CI=1.051～1.808,P=0.020),병례조TT기인형분포현저고우대조조(OR =2.344,95％CI=1.220～4.503,P=0.009).결론 항주지구육령녀성휴대MTHFR 677T등위기인급TT기인형가능위URPL적위험인소.
Objective To explore the relationship between methylenetetrahydrofolate reductase (MTHFR) 677C ＞ T and unexplained recurrent pregnancy loss (URPL).Methods All patients were recruited from the outpatient department of Obstetrics/Gynaecology & Genetics of Hangzhou First People's Hospital from January 2013 to May 2014.A case-control study was performed.According to the stochastic indicator method,there were 125 subjects with a history of ≥2 times URPL as the case group,and 905 healthy parous women with no history of URPL as the control group.Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to detect the distributions of the polymorphisms of MTHFR 677C ＞ T,and the results were validated using oligo-chip and direct sequencing.Results The allele and genotype frequencies of MTHFR were 60.0％ for C,40.0％ for T,32.0％ for CC,56.0％ for CT,and 12.0％ for TT in the case group and 67.4％ for C,32.6％ for T,41.4％ for CC,52.0％ for CT,and 6.6％ for TT in the control group,respectively.The prevalence of allele T was significantly higher in the case group than in the control group (OR =1.379,95％ CI =1.051-1.808,P =0.020),the frequency of genotype TT was also significantly higher in the case group than in the control group (OR =2.344,95％ CI =1.220-4.503,P =0.009).Conclusion The fertile women with MTHFR 677T allele and 677TT genotype may be susceptibility to URPL in a Chinese Han population from the Hangzhou area.
