蛋氨酸合成酶还原酶基因多态性与先天神经管缺陷的关系  

Relationship between genetic polymorphism of MTRR and congenital neural tube detects

作　　者：任美英 周媛[2] 陈沫[3] 

机构地区：[1]解放军208医院急诊科,吉林长春130062 [2]解放军208医院妇产科,吉林长春130062 [3]解放军208医院461医学部,吉林长春130062

出　　处：《中国实验诊断学》2011年第6期1030-1032,共3页Chinese Journal of Laboratory Diagnosis

摘　　要：目的研究同型半胱氨酸代谢相关酶中蛋氨酸合成酶还原酶(MTRR)基因的多态性与先天神经管缺陷发病的相关性。方法采用病例对照研究的方法,以82名先天神经管缺陷的胎儿及新生患儿(疾病组)与180名无先天神经管缺陷的胎儿及新生儿(对照组)的血白细胞为样本,应用聚合酶链反应-限制性片段长度多态性技术检测两组的MTRR基因第66位点的多态性,比较两组的基因型和等位基因的分布频率,将疾病组按先天神经管缺陷分布分为单一畸形组和多畸形组,分别为28、54名,比较两组的基因型和等位基因的分布频率。结果 MTRR的66位点AA、AG和GG基因型在疾病组中分别为26.83%、43.90%、29.27%,在对照组中分别为43.89%、43.89%、12.22%。两组的分布频率差异有显著性。而此基因位点AA、AG和GG基因型在单一畸形组中分别为25.00%、42.86%、32.14%,在多畸形组中分别为25.93%、40.74%、33.33%,两组的分布频率无显著差异性。结论 (1)MTRR基因第66位点的多态性与先天神经管缺陷的发病具有一定程度的相关性;(2)MTRR基因第66位点中的A/A可能为先天神经管缺陷的保护基因;(3)此位点的变异与先天神经管缺陷的分布频率无明显相关性。Objective To detect the distribution of polymorphism of MTRR gene in fetus or neonatal with congenital neural tube detects（disease group）and normal controls.Methods Polymorphism of the 66th site A/G of MTRR gene was detected by polymerase chain reaction-restrction fragment length polymorphism in disease group（n=82） and normal controls（n=180）.There were 28 patients who were single malformation of neural tube and 54 who were complex malformation in disease group.Results The frequencies of AA,AG and GG genotypes of the 66th site of MTRR gene were 26.83%,43.90% and 29.27%in disease group.while 43.89%,43.89% and 12.22% in normal controls.A significant difference was seen in the distribution frequency in two groups.The frequencies of AA,AG and GG genotypes were 25.00%,42.86% and 32.14% in fetus or neonatal who were single malformation of neural tube while 25.93%,40.74% and 33.33% in fetus or neonatal who were complex malformation.No significant difference was seen in the distribution frequency in two groups.Conclusion The distribution frequency of MTRR gene have something to do with morbility of congenital neural tube detects but has nothing to do with the extent of congenital neural tube detects.Genotypes A/A in MTRR gene may have a protective effect against congenital neural tube detects.

关 键 词：先天神经管缺陷 蛋氨酸合成酶还原酶 基因 遗传多态性 

分 类 号：R714.5[医药卫生—妇产科学]