MTHFR基因-677C/T多态性与皖北地区人群NSCL/P的相关性研究

The Related Study between MTHFR-677C/T Gene Polymorphisms and NSCL/P in the Northern Part of Anhui Province

目的探讨MTHFR基因677C/T多态性与皖北地区人群非综合征性唇腭裂(NSCL/P)发生的关系。方法通过基因多态性的研究,采用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)方法,以74例非NSCL/P患者为对照,配对研究74例NSCL/P患者的MTHFR基因677C/T多态性,分析记录基因型和等位基因频率,用病例-对照研究方法进行遗传统计学分析。结果①在MTHFR-677位点,病例组与对照组人群的基因型和等位基因分布差异有统计学意义(P<0.05)。杂合突变型(CT)和纯和突变型(TT)的NSCL/P发病风险分别是野生型(CC)的3.66倍和3.02倍,P<0.05,差异有统计学意义。②病例组NSCL/P不同类型与对照组的基因型和等位基因频数比较,结果在MTHFR-677位点,单纯唇裂组与对照组的基因型比较,P<0.05,差异有统计学意义;单纯唇裂组与对照组的等位基因频数比较,P<0.05,差异有统计学意义。其余各类型与对照组相比较差异均无统计学意义,P>0.05。③病例组NSCL/P中有家族史组与无家族史组基因型和等位基因频数的比较,结果在MTHFR-677C/T位点处,P>0.05,差异无统计学意义。结论皖北地区人群NSCL/P的发病与MTHFR-677C/T位点处的单核苷酸多态有关。

Objective To study the relationship between MTHFR-677C/T gene polymorphisms with NSCL/P in the northern part of Anhui Province.Methods Case group and control group were designed.The case group was consisted of 74 NSCL/P individuals,while the control group had same one.All genes and genotypes were analyzed by the methods of polymerase chain reaction and restriction fragment length polymorphism technique（PCR-RFLP）.All data were analyzed by genetic statistical methods.Results ①To MTHFR 677C/T,there was a significant difference between case group and control group in genotype frequency and allele frequency（P0.05）.The risk of catch NSCL/P in CT and TT type was 3.66 times and 3.02 times to CC type,which had significant differences.②To MTHFR 677C/T,the genotype frequency（P0.05） and allele frequency（P0.05） between unilateral cleft lip and control group were analyzed,the results all had statistical significance.The remaining types,which compared with the control group had no statistical significance（P0.05）.③There was no statistical significance between the case with family history and the one without family history on MTHFR 677C/T.Conclusion The single nucleotide polymorphism of MTHFR 677C/T was associated with the development of NSCL/P in the northern part of Anhui Province.