摘要
目的探讨NAT2基因突变与子宫内膜异位症的遗传易感性的关系。方法采用PCR-RFLP技术,分别对河北唐山94例汉族内异症患者(包括单纯卵巢巧克力囊肿患者51例、单纯子宫腺肌病患者32例、卵巢巧克力囊肿+腺肌病患者11例)和102名对照的基因组DNA进行NAT2基因分型。结果乙酰化基因型在病例组与对照组的分布有显著差异,病例组慢乙酰化程度(43.62%)高于对照组(20,59%),将巧囊组分期后比较显示,乙酰化程度在I、Ⅱ期的分布没有差异,但是Ⅲ、Ⅳ期病例组(26.32%)就明显高于对照组(20.59%)。乙酰化程度在腺肌病组分布(62.50%)明显高于对照组,腺肌病组的慢乙酰化程度是对照组的20.44倍,表明内异症与NAT2基因的变异程度有一定的相关。结论NAT2基因慢乙酰化基因型与唐山汉族妇女内异症的发病有关。
Objective： To assess the possible association between gene mutation of N - acetyltransferase 2 and the susceptibility to endometriosis （EM） . Methods： The polymerase chain reaction - restriction fragment length polymorphism （ PCR - RFLP） method was used to detect NAT2 genetic genotype from the Hans （ 102 controls and 94 cases） in Tangshan Hebei province. Results： The distribution of acetylation genotype in cases were significantly different from those controls, and the degree of slow acetylation in cases was higher than in controls. Similarly, significant difference was observed in the distribution of slow acetylation genotype in phases three and four EMs compared with controls, but there was no difference between one and two EMs and controls. The frequency of slow acetylation showed a significant difference between adenomyosis group and controls, with an odds ratio of 20. 44. Conclusion： An association is found between NAT2 slow acetylation genotype and endometriosis in the Hans population in Tangshan.
出处
《中国妇幼保健》
CAS
北大核心
2007年第6期822-824,共3页
Maternal and Child Health Care of China
