中华整形外科杂志
中華整形外科雜誌
중화정형외과잡지
CHINESE JOURNAL OF PLASTIC SURGERY
2014年
4期
265-269
,共5页
亚甲基四氢叶酸还原酶%非综合征性唇腭裂%多态性现象,遗传%核型家庭
亞甲基四氫葉痠還原酶%非綜閤徵性脣腭裂%多態性現象,遺傳%覈型傢庭
아갑기사경협산환원매%비종합정성진악렬%다태성현상,유전%핵형가정
Methylenetetrahydrofolate reductase%Nonsyndromic cleft lip with or without cleft palate%Genetic polymorphism%Nuclear families
目的 探讨山西人群亚甲基四氢叶酸还原酶基因(MTHFR) C677T多态性与非综合征性唇腭裂的相关性.方法 收集山西地区150例非综合征性唇腭裂患儿及其父母(其中包含135个核心家庭,实验组)和150例正常新生儿及其母亲(对照组),应用聚合酶链式反应-限制性片段长度多态性方法,对MTHFR基因C677T位点的多态性进行检测,利用人群关联研究分析、实验组核心家庭的传递不平衡检验(TDT)、单体型的相对危险度分析(HHRR)研究该突变与非综合征性唇腭裂的相关性.结果 Hardy-Weinberg平衡检验结果表明,实验组和对照组子代及母亲基因型均未偏离Hardy-Weinberg遗传平衡定律(P＞0.05);在实验组和对照组的子代中,CC、CT、TT 3种基因型分布,差异有统计学意义(P＜0.05),实验组和对照组子代及母亲中,TT基因型携带者相对于CC基因型的相对危险度(OR)值均大于1,且95％可信区间(CI)不包含1(子代相对危险度:2.692,95％可信区间:1.319 ～5.495;母亲相对危险度:2.469,95％可信区间:1.136 ～5.363);实验组和对照组分别在子代和母亲中,C等位基因和T突变等位基因的分布差异均有统计学意义(P＜0.05);非综合征性唇腭裂核心家系TDT检验,x2=4.507,P＜0.05;HHRR检验,P＜0.05.结论 山西人群MTHFR基因C677T位点多态性与非综合征性唇腭裂的发生存在关联.
目的 探討山西人群亞甲基四氫葉痠還原酶基因(MTHFR) C677T多態性與非綜閤徵性脣腭裂的相關性.方法 收集山西地區150例非綜閤徵性脣腭裂患兒及其父母(其中包含135箇覈心傢庭,實驗組)和150例正常新生兒及其母親(對照組),應用聚閤酶鏈式反應-限製性片段長度多態性方法,對MTHFR基因C677T位點的多態性進行檢測,利用人群關聯研究分析、實驗組覈心傢庭的傳遞不平衡檢驗(TDT)、單體型的相對危險度分析(HHRR)研究該突變與非綜閤徵性脣腭裂的相關性.結果 Hardy-Weinberg平衡檢驗結果錶明,實驗組和對照組子代及母親基因型均未偏離Hardy-Weinberg遺傳平衡定律(P＞0.05);在實驗組和對照組的子代中,CC、CT、TT 3種基因型分佈,差異有統計學意義(P＜0.05),實驗組和對照組子代及母親中,TT基因型攜帶者相對于CC基因型的相對危險度(OR)值均大于1,且95％可信區間(CI)不包含1(子代相對危險度:2.692,95％可信區間:1.319 ～5.495;母親相對危險度:2.469,95％可信區間:1.136 ～5.363);實驗組和對照組分彆在子代和母親中,C等位基因和T突變等位基因的分佈差異均有統計學意義(P＜0.05);非綜閤徵性脣腭裂覈心傢繫TDT檢驗,x2=4.507,P＜0.05;HHRR檢驗,P＜0.05.結論 山西人群MTHFR基因C677T位點多態性與非綜閤徵性脣腭裂的髮生存在關聯.
목적 탐토산서인군아갑기사경협산환원매기인(MTHFR) C677T다태성여비종합정성진악렬적상관성.방법 수집산서지구150례비종합정성진악렬환인급기부모(기중포함135개핵심가정,실험조)화150례정상신생인급기모친(대조조),응용취합매련식반응-한제성편단장도다태성방법,대MTHFR기인C677T위점적다태성진행검측,이용인군관련연구분석、실험조핵심가정적전체불평형검험(TDT)、단체형적상대위험도분석(HHRR)연구해돌변여비종합정성진악렬적상관성.결과 Hardy-Weinberg평형검험결과표명,실험조화대조조자대급모친기인형균미편리Hardy-Weinberg유전평형정률(P＞0.05);재실험조화대조조적자대중,CC、CT、TT 3충기인형분포,차이유통계학의의(P＜0.05),실험조화대조조자대급모친중,TT기인형휴대자상대우CC기인형적상대위험도(OR)치균대우1,차95％가신구간(CI)불포함1(자대상대위험도:2.692,95％가신구간:1.319 ～5.495;모친상대위험도:2.469,95％가신구간:1.136 ～5.363);실험조화대조조분별재자대화모친중,C등위기인화T돌변등위기인적분포차이균유통계학의의(P＜0.05);비종합정성진악렬핵심가계TDT검험,x2=4.507,P＜0.05;HHRR검험,P＜0.05.결론 산서인군MTHFR기인C677T위점다태성여비종합정성진악렬적발생존재관련.
Objective To assess the association between polymorphism of methylenetetrahydrofolate reductase (MTHFR) gene C677T locus and nonsyndromic cleft lip with or without cleft palate (NSCL/P) in Shanxi Province of China.Methods Blood samples from 150 patients and their parents and 150 controls and their mothers were collected.The polymorphism of MTHFR gene C677T locus were analyzed by the methods of polymerase chain reaction and restriction fragment length polymorphism technique(PCR-RFLP).Case-control analysis,transmission-disequilibrium test (TDT) and haplotypebased haplotype relative risk analysis(HHRR) were used to study the correlation between the gene mutation and NSCL/P.Results Hardy-Weinberg equilibrium test results showed that,the offspring and mother genotype in the case group and the control group was not deviated from the Hardy-Weinberg law of genetic equilibrium (P ＞ 0.05).The distribution of genotype CC,CT and TT in offspring had significant difference between the two groups (P ＜ 0.05).In the offspring and mother of case group and the control group,the carriers of the TT genotype compared to CC genotype,the OR are greater than 1 and 95％ CI do not contain 1 (offspring OR:2.692,95％ CI:1.319-5.495; mother OR:2.469,95％ CI:1.136-5.363).The distribution of C allele and T mutation gene were significantly different in the offspring and mother between the two groups (P＜0.05).The TDT test showed:x2 =4.507,P＜0.05.The HHRR test showed:P ＜ 0.05.Conclusion The single nucleotide polymorphism of MTHFR C677T locus is associated with the development of NSCL/P in Shanxi Province.
