摘要： 目的: 研究蛋氨酸合成酶(methionine synthase,  MTR/MS)基因rs1805087位点单核苷酸多态性与山西人群非综合征性唇腭裂（NSCL/P）的相关性。方法: 采用聚合酶链式反应?鄄限制性片段长度多态性（PCR-RFLP）方法对135个NSCL/P核心家庭、150例正常新生儿及其母亲的MTR基因rs1805087位点多态性进行检测；用人群关联研究、病例组核心家庭的传递不平衡检验（TDT）和单体型的相对危险度（HHRR）进行统计分析。结果: 本研究中GG基因型较少，故将AG和GG基因型合并后与AA基因型比较。病例组子代及母亲和对照组之间，基因型分布和等位基因频率比较，差异均无统计学意义(P>0.05)；唇裂组和唇腭裂组子代及母亲基因型分布和等位基因频率，与对照组差异均无统计学意义(P>0.05)；病例组核心家庭分析，TDT检验χ2=0.083，P>0.05，HHRR分析χ2=0.112，P>0.05,说明携带有突变基因G并不能增加NSCL/P的发病风险。结论: 本研究结果未显示MTR基因rs1805087位点多态性与山西人群非综合征性唇腭裂之间存在相关性。

关键词: 蛋氨酸合成酶基因, 非综合征性唇腭裂, 单核苷酸多态性, 关联研究, 传递不平衡检验

Abstract: Objective:To assess the association between polymorphism of methionine synthase (MTR/MS) gene rs1805087 locus and nonsyndromic cleft lip with or without cleft palate (NSCL/P) in Shanxi Population. Methods: Blood samples from 135 NSCL/P patients and their parents and 150 controls and their mothers were collected. The polymorphism of MTRgene rs1805087 locus was determined with PCR restriction fragment length polymorphism(PCR-RFLP) method． Case-control analysis, transmission-disequilibrium test(TDT) and haplotype-based haplotype relative risk analysis(HHRR) were carried out． Results: By case-control analysis, no significant difference was found in the genetype and allele frequencies of MTR rs1805087 locus among offsprings and mothers between the case and control group, and there was also no significant difference  in Cleft lips(CL) group and Cleft lip with palate (CLP) group. Transmission disequilibrium test (TDT) analysis yielded no evidence of linkage disequilibria (χ2=0.083, P>0.05) . The results of haplotype-based haplotype relative risk(HHRR) analysis(χ2=0.112，P>0.05) failed to show association between the MTRrs1805087 and the risk of NSCL/P． Conclusion: Our date do not support MTRrs1805087 locus involvement in NSCL/P onset among the Shanxi population in China.

Key words: methionine synthase gene, nonsyndromic cleft lip with or without cleft palate（NSCL/P）, single nucleotide polymorphism, association analysis, transmission-disequilibrium test

中图分类号: 

• R782.2

• Q754