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目的    研究亚甲基四氢叶酸还原酶（MTHFR）基因 C677T多态性与山东地区非综合征性唇腭裂（NSCL／P）的相关性。方法    于2008 年 9月在山东省优生技术重点实验室采用聚合酶链反应-限制性片段长度多态性（ PCR-RFLP）分析，对2006 年8月至2008年8月曾在齐鲁医院治疗的来自山东地区NSCL／P患儿家庭34户和健康查体的正常儿童家庭46户的家庭成员MTHFR基因的C677T基因型进行检测。结果    携带T等位基因的父母，其子代患NSCL／P的危险性是不携带T等位基因父母的子代的2.420倍；母子都是TT突变纯合子，子代患NSCL／P的危险性是母子为非TT纯合子的4.162倍；子代是TT突变纯合子患NSCL／P的危险性是非TT纯合子的3.812倍。结论    山东地区NSCL／P与MTHFR基因 C677T的多态性相关，与父母的基因型存在联系；T基因在母子组合的研究中有统计学意义，父母传递给子代的T等位基因对后代的患病有重要作用。

Association of methylenetetrahydrofolate reductase gene C677T polymorphisms with non-syndromic cleft lip with or without cleft palate in Shandong province

Objective To study the association between nonsyndromic cleft lip with or without cleft palate （NSCL/P）and the methylenetetrahydrofolate reduetase （MTHFR）gene C677T polymorphism in Shandong province. Methods The study was performed in Shandong Provincial Key Laboratory of Improving Birth Outcome Technique in September 2008. Using polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP）analysis, we analyzed the C677T gene type of MTHFR gene of members from 34 families of NSCL/P from Shandong, who came to Qilu Hospital for treatment from August 2006 to August 2008, and 46 normal families. Results For the NSCL/P parents with T allele, their children were 2.420 times more likely to suffer from NSCL/P than those whose parents didn＇ t carry T allele. The mothers and children with TT mutation in a pure zygote were 4.162 time more likely to suffer from NSCL/P than those with non-TT homozygous mutation, and their offsprings with TT homozygous mutation were 3.812 times more likely to suffer from NSCL/P than those with non-TT homozygous mutation. Conclusion NSCL/P is related to MTHFR gene C677T polymorphism and is associated with genotypes of the parents. T gene is of statistical significance in mother-child study. The T allele from parents to their offsprings plays an important role in the attack of the illness in the offsprings.