深圳市青年同型半胱氨酸及其他临床指标与MTHFR C677T基因的多态性  

Relationships of plasma homocysteine levels and other clinical indexes with the polymorphisms of MTHFR gene C677T among the young people in Shenzhen area

作　　者：毕佳佳[1] 张思韵 罗雯媛[1] 关幸求[1] 

机构地区：[1]北京大学深圳医院神经内科,广东省深圳市518036

出　　处：《中国组织工程研究》2014年第42期6871-6877,共7页Chinese Journal of Tissue Engineering Research

基　　金：深圳市科技创新委员会资助项目(JCYJ20130402114019656)~~

摘　　要：背景:N5,10-亚甲基四氢叶酸还原酶(5,10-methylenetetrahydro-fotate reductase,MTHFR)基因发生突变,易引起高同型半胱氨酸血症,而高同型半胱氨酸血症为脑卒中的独立危险因素。目的:分析深圳地区青年人群同型半胱氨酸水平与MTHFR C677T基因多态性之间的关系,并探讨高同型半胱氨酸血症与其他临床资料之间是否具有相关性。方法:分别收集101例高同型半胱氨酸血症患者作为实验组,101例同型半胱氨酸血值正常者作为对照组(20-45岁)。收集入组人员的口腔唾液标本,用纳米磁珠法提取DNA,PCR扩增目的片段,并将扩增产物送与公司测序。结果与结论:实验组和对照组MTHFR C677T基因的CC型、CT型、TT型3种基因型总体分布频率具有显著性意义(P<0.01),说明深圳地区青年人群同型半胱氨酸水平与MTHFR C677T的多态性具有一定的相关性。实验组中TT型基因频率及T等位基因频率均明显高于对照组,且实验组TT基因型的受试者同型半胱氨酸水平明显高于CT基因型及CC基因型受试者,差异均有显著性意义(P<0.05),说明TT型比CT型更能影响同型半胱氨酸水平。实验组收缩压、舒张压值显著高于对照组(P<0.05),表明高同型半胱氨酸血症可引起血压值增高;试验并不能确定高同型半胱氨酸血症能增高血脂水平。BACKGROUND：Hyperhomocysteine can be caused by 5,10-methylene tetrahydrofolate reductase （MTHFR） gene mutation, and HHcy is the independent risk factor for cerebral stroke. OBJECTIVE：To study the correlation between plasma homocysteine level and polymorphisms of MTHFR gene C677T of young people in Shenzhen area, and to explore the relationships of plasma hyperhomocysteine level with other clinical indicators. METHODS：A total of 101 cases with hyperhomocysteine were col ected as experimental group, and 101 cases with normal homocysteine level served as control group （20-45 years old）. Genomic DNA was extracted with magnetic nanoparticles method from mouth swab samples of 202 cases. Then the DNA was amplified into target gene fragment by PCR, and amplification product was then sequenced. RESULTS AND CONCLUSION：The frequencies of CC, CT, TT genotype of MTHFR C677T showed significant differences between the experimental group and the control group （P〈0.01）. This evidence indicates that the polymorphisms of MTHFR gene C677T can influence plasma homocysteine level of young people in Shenzhenarea;TT genotype frequencies and T al ele frequencies in the experimental group were higher than that of control group. Besides, the plasma homocysteine level of TT genotype was significantly higher than that of CT genotype and CC genotype in the experimental group （P〈0.05）. We can conclude that TT genotype can improve the homocysteine level more than CT genotype;The systolic blood pressure and diastolic blood pressure in the experimental group were significantly higher than that in the control group （P〈0.05）. It indicated that hyperhomocysteine can induce the elevation of blood pressure level;but it is not sure that hyperhomocysteine can increase cholesterol level in our study.

关 键 词：组织构建 组织工程 基因组DNA 口腔拭子 无创 纳米磁珠 基因型 同型半胱氨酸 高同型半胱氨酸血症 N5 10-亚甲基四氢叶酸还原酶(MTHFR C677T) 叶酸 深圳青年 

分 类 号：R318[医药卫生—生物医学工程]