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目的探讨亚甲基四氢叶酸还原酶(MTHFR)基因A1298C多态性与山西人群非综合征性唇腭裂(nonsyndromic cleft lip with or without cleft palate,NSCL/P)的相关性。方法选取2010年9月至2012年4月山西地区150例NSCL/P患者及其父母作为病例组(其中有135个完整的NSCL/P核心家系),150例正常新生儿作为对照组,应用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)分析方法,对MTHFR基因A1298C位点的多态性进行检测,利用人群关联研究分析、病例组核心家系的传递不平衡检验(TDT)、单体型的相对危险度(HHRR)分析来研究该突变与NSCL/P的相关性。结果病例组和对照组人群基因型均未偏离Hardy-Weinberg遗传平衡定律(P>0.05);病例组与对照组进行子代间比较,AA、AC、CC3种基因型分布差异有统计学意义(P<0.05),A等位基因和C突变等位基因的分布差异均有统计学意义(P<0.05);NSCL/P核心家系TDT检验,差异有统计学意义(P<0.05),表明突变等位基因C存在着传递失衡的现象;HHRR检验结果表明,MTHFR基因A1298C位点多态性由双亲传递给患病子女的等位基因(C/A)频率差异有统计学意义(P<0.05)。结论 MTHFR基因A1298C位点多态性与山西人群NSCL/P的发生存在关联。
Objective To investigate the association between methylenetetrahydrofolate reductase (MTHFR) gene A1298C polymorphism and nonsyndromic cleft lip with or without cleft palate (NSCL / P) in Shanxi Province. Methods A total of 150 NSCL / P patients and their parents in Shanxi Province from September 2010 to April 2012 were selected as the case group (135 complete NSCL / P nuclear family members) and 150 normal newborns as control group. Using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis, we detected the polymorphism of A1298C in MTHFR gene. Using population-related research and analysis, transmission disequilibrium test (TDT) ), Haplotype relative risk (HHRR) analysis to study the association of this mutation with NSCL / P. Results There was no deviation from the Hardy-Weinberg genetic balance (P> 0.05) between the genotypes of the case group and the control group. The genotypes of AA, AC and CC genotypes between the case group and the control group were statistically significant (P < P <0.05). There were significant differences in allele distribution between A allele and C mutation (P <0.05), and TDT test in NSCL / P core family was statistically significant (P <0.05) There was a transmission imbalance in allele C. The results of HHRR test showed that there was significant difference in the frequency of allele (C / A) between the A1298C polymorphism of MTHFR gene and the affected children (P <0.05) ). Conclusion There is a correlation between MTHFR A1298C locus polymorphism and NSCL / P in Shanxi population.