蛋氨酸合成酶还原酶基因多态性与胎儿神经管畸形的关系研究 李鹰1 .docVIP

蛋氨酸合成酶还原酶基因多态性与胎儿神经管畸形的关系研究 李鹰1 谷强2 1 新疆维吾尔自治区石河子大学医学院妇产科专业 2 新疆维吾尔自治区石河子大学第一附属医院儿科，石河子 832000 摘要 目的：观察中国新疆维吾尔自治区石河子地区妊娠妇女蛋氨酸合成酶还原酶（MTRR A66G）基因多态性与胎儿神经管畸形（NTDs）之间的相关性,进一步探讨NTDs的发生机制。方法：41例经B超及临床确诊胎儿神经管畸形的妊娠妇女为病例组，选取同期同地区有正常生育史，个体间无血缘关系的妊娠妇女82例为正常对照组。抽取孕妇外周静脉血，用EDTA- K2抗凝的全血提取DNA，采用聚合酶链反应-限制性片段长度多态性(PCR- RFLP)技术检测MTRR基因A66G多态性。结果：MTRR基因A66G位点在本研究中有三种基因型，即野生纯和型AA、杂合突变型AG和纯和突变型GG。在病例组中，AA、AG、GG基因型构成比分别为48.78%、36.59%、14.63%，正常对照组中其构成比相应为52.44%、41.46%、6.10%，两组间的差异无统计学意义，χ2=2.462， p0.05；其等位基因A在病例组和对照组中的构成比分别为67.07%和73.17%，等位基因G的频率在病例组和对照组中的构成分别为32.93%和26.83%，差异无统计学意义，χ2=0.990， p0.05。结论：孕妇MTRR A66G基因多态性与胎儿神经管畸形的发生无相关性，AG、GG基因型并不增加胎儿神经管畸形的发生危险。MTRR A66G基因多态性在我国新疆石河子地区可能不是胎儿神经管畸形的独立遗传危险因素。 关键词 神经管畸形；蛋氨酸合成酶还原酶；基因多态性 Relationship between maternal genetic polymorphism of methionine synthet -ase reductase and the neural tube defects Li ying 1, GU Qiang2 (1 LI ying, Medical department of Shi-hezi University, Xinjiang, 2 GU-Qiang , The First Hospital Affiliated to Shi-hezi University, Shi-hezi 832000,China) Abstract Objective: To explore the relationship between the genetic polymorphism of methionine synthetase reductase (MTRR)and the neural tube defects(NTDs) in Shi-hezi city of Xinjiang Province in order to investigate the occurrence mechanism of NTDs . Methods: A total of 41 pregnant women who were diagnosed with NTDs through clinical or B ultrasonic diagnosis as case group, at the same time, 82 cases of normal pregnant women and healthy subjects without consanguinity between each other selected as normal control group. DNA was extracted from peripheral venous blood. MTRR A66G genotypes were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Result :There are three genotypes in this research of MTRR A66G, AA 、AG and GG. The frequencies of AA,AG and GG genotypes were 48.78%、36.59%、14.63% respectively in case group while 52.44%、41.46%、6.10%, in control group(χ2=2.462，p=0.292, p0.05). No significant difference was seen in the distributio