中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2009年
3期
345-349
,共5页
郭晋臻%宋晓明%汪云%朱文丽%李书琴%李勇
郭晉臻%宋曉明%汪雲%硃文麗%李書琴%李勇
곽진진%송효명%왕운%주문려%리서금%리용
蛋氨酸合酶基因%基因多态性%非综合征型唇腭裂
蛋氨痠閤酶基因%基因多態性%非綜閤徵型脣腭裂
단안산합매기인%기인다태성%비종합정형진악렬
methionine synthase gene%gene polymorphism%nonsyndromic cleft lip with or without cleft palate
目的 研究蛋氨酸合酶基因(methionine synthase,MS)A2756G位点多态性与非综合征型唇腭裂(nonsyndromic cleft lip with or without cleft palate,NSCL/P)的关联性.方法 采用PCR-限制性片段长度多态性技术检测97个NSCL/P病例组核心家庭和104个对照家庭的MS基因A2756G位点的多态性;用人群关联研究分析、病例组核心家庭的传递不平衡检测(transmission disequilibrium test,TDT)、单体型的相对危险度分析(haplotype-based haplotype relative risk,HHRR)、家庭为基础的关联研究(family-based association tests,FBAT)等统计分析.结果 子代、父亲、母亲病例组和对照组之间基因型和等位基因的分布差异均无统计学意义(P>0.05);本研究中在子代和母亲组中未检出GG基因型,AG基因型相对于AA基因型的比值比OR和95%CI分别为子代1.78(0.74～4.34)、父亲0.80(0.36～1.79)、母亲1.26(0.54～2.93),G相对于A基因的OR和95%CI分别为子代1.70(0.78～3.73)、父亲0.88(0.49～1.75)、母亲1.23(0.59～2.60),携带有突变基因G并不能增加患NSCL/P的危险.病例组核心家庭分析,TDT分析χ2=0.034,P>0.05;HHRR分析χ2=0.03,P>0.05;FBAT分析Z=0.186,P>0.05.结论 结果未显示出MS基因A2756G位点多态性和NSCL/P发生的相关性,还待进一步研究.
目的 研究蛋氨痠閤酶基因(methionine synthase,MS)A2756G位點多態性與非綜閤徵型脣腭裂(nonsyndromic cleft lip with or without cleft palate,NSCL/P)的關聯性.方法 採用PCR-限製性片段長度多態性技術檢測97箇NSCL/P病例組覈心傢庭和104箇對照傢庭的MS基因A2756G位點的多態性;用人群關聯研究分析、病例組覈心傢庭的傳遞不平衡檢測(transmission disequilibrium test,TDT)、單體型的相對危險度分析(haplotype-based haplotype relative risk,HHRR)、傢庭為基礎的關聯研究(family-based association tests,FBAT)等統計分析.結果 子代、父親、母親病例組和對照組之間基因型和等位基因的分佈差異均無統計學意義(P>0.05);本研究中在子代和母親組中未檢齣GG基因型,AG基因型相對于AA基因型的比值比OR和95%CI分彆為子代1.78(0.74～4.34)、父親0.80(0.36～1.79)、母親1.26(0.54～2.93),G相對于A基因的OR和95%CI分彆為子代1.70(0.78～3.73)、父親0.88(0.49～1.75)、母親1.23(0.59～2.60),攜帶有突變基因G併不能增加患NSCL/P的危險.病例組覈心傢庭分析,TDT分析χ2=0.034,P>0.05;HHRR分析χ2=0.03,P>0.05;FBAT分析Z=0.186,P>0.05.結論 結果未顯示齣MS基因A2756G位點多態性和NSCL/P髮生的相關性,還待進一步研究.
목적 연구단안산합매기인(methionine synthase,MS)A2756G위점다태성여비종합정형진악렬(nonsyndromic cleft lip with or without cleft palate,NSCL/P)적관련성.방법 채용PCR-한제성편단장도다태성기술검측97개NSCL/P병례조핵심가정화104개대조가정적MS기인A2756G위점적다태성;용인군관련연구분석、병례조핵심가정적전체불평형검측(transmission disequilibrium test,TDT)、단체형적상대위험도분석(haplotype-based haplotype relative risk,HHRR)、가정위기출적관련연구(family-based association tests,FBAT)등통계분석.결과 자대、부친、모친병례조화대조조지간기인형화등위기인적분포차이균무통계학의의(P>0.05);본연구중재자대화모친조중미검출GG기인형,AG기인형상대우AA기인형적비치비OR화95%CI분별위자대1.78(0.74～4.34)、부친0.80(0.36～1.79)、모친1.26(0.54～2.93),G상대우A기인적OR화95%CI분별위자대1.70(0.78～3.73)、부친0.88(0.49～1.75)、모친1.23(0.59～2.60),휴대유돌변기인G병불능증가환NSCL/P적위험.병례조핵심가정분석,TDT분석χ2=0.034,P>0.05;HHRR분석χ2=0.03,P>0.05;FBAT분석Z=0.186,P>0.05.결론 결과미현시출MS기인A2756G위점다태성화NSCL/P발생적상관성,환대진일보연구.
Objective To study the association of the A2756G polymorphism of the methionine synthase (MS) gene with nonsyndromie cleft lip with or without cleft palate (NSCL/P) in Chinese. Methods Ninety-seven NSCL/P case-parent triads were selected as the case group. One hundred and four healthy subjects and their biological parents were selected as control group. For all subjects the A2756G polymorphism of the MS gene was examined by PCR-RFLP method. Results There was no statistical difference in genotype and allele frequencies for MS A2756G variants among family members between case group and control group. The GG genotype was not detected in the offsprings and mothers. The odds ratio and confidence interval of genotype AG in offspring, father and mother were 1.78(0.74-4.34), 0.80(0. 36-1.79) and 1.26(0. 54-2.93) respectively. The odds ratio and confidence interval of allele G in offspring, father and mother were 1.70(0.78-3.73), 0. 88(0. 49-1. 75) , and 1.23(0.59-2.60) respectively. The G allele did not increase the risk of NSCL/P. Transmission disequilibrium test (TDT) analysis yielded no evidence of linkage disequilibrium (χ2=0.034,P>0. 05). The results of haplotype-based haplotype relative risk (HHRR) analysis (χ2=0.03,P>0.05) and family-based association tests (FBAT) (Z=0. 186, P> 0.05) failed to show association between the MS A2756G variant and the risk of NSCL/P. Conclusion The A2756G polymorphism of the MS gene was not associated with NSCL/P in Chinese in the present study.
