摘要
目的 探讨北方乡村妇女亚甲基四氢叶酸还原酶 (MTHFR)基因多态性与神经管畸形的关系。方法 用聚合酶链反应 -限制性片段的多态性 (PCR- RFL P)技术 ,检测 2 0例生育神经管畸形患儿 (NTDs)的妇女及 76例农村和 73例城市正常出生儿母亲的 MTHFR基因多态性。结果 MTHFR基因第 6 77位核苷酸呈多态性 ,可分为三种类型 :C/ C、C/ T、T/ T。病例组三种基因突变频率 :C/ C,5 % ;C/ T,5 0 % ;T/ T,45 %。城市对照组分别为 :C/ C,2 8.8% ;C/ T,5 4.8% ;T/ T,16 .4%。乡村对照组分别为 :C/ C,34 .2 % ;C/ T,46 .1% ;T/ T,19.7%。病例组 T/ T基因突变频率显著高于对照组 ,而城乡正常妇女 T/ T基因突变频率基本一致。结论 提示母亲 MTHFR基因突变与生育NTDs患儿有相关性。
Objective To explore relationship between methylenetetra hydrofolate reductase (MTHFR) polymorphism and neural tube defects (NTDs)of women in the northern countryside. Methods The MTHFR polymorphisms in twenty NTDs' mothers and normal controls were tested using polymerase chain reaction restriction fragment length polymorphism (PCR RFLP). Results The frequency of T alleles was significantly higher in NTDs than in normal controls. The frequencies of three genotypes were as follows: C/C(homozygous normal), 5%; C/T(heterozygous), 50%; T/T (homozygous mutant), 45% in cases and 28.8%; 54.8%; 16.4% in city control subjects, and 34.2%; 46.1%; 19.7% in the countryside control subjects, respectively. Conclusions The results suggest that mother with polymorphisms of MTHFR gene may be associated to the occurrence of offspring's NTDs.
出处
《疾病控制杂志》
2000年第3期217-219,共3页
Chinese Journal of Disease Control and Prevention
