<?xml version="1.1" encoding="utf-8"?>
<article xsi:noNamespaceSchemaLocation="http://jats.nlm.nih.gov/publishing/1.1/xsd/JATS-journalpublishing1-mathml3.xsd" dtd-version="1.1" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance"><front><journal-meta><journal-id journal-id-type="publisher-id">MRP</journal-id><journal-title-group><journal-title>Medical Research and Practice</journal-title></journal-title-group><issn>2993-9690</issn><eissn>2993-9704</eissn><publisher><publisher-name>Art and Design</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.61369/MRP.2025060014</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title>MTHFR基因突变位点在脑卒中患病风险中的影响探究</title><url>https://artdesignp.com/journal/MRP/3/6/10.61369/MRP.2025060014</url><author>周忠钰,刘天伟,雷皓伟,华昱,涂强,魏慧彤,刘佳萌,成孟丽</author><pub-date pub-type="publication-year"><year>2025</year></pub-date><volume>3</volume><issue>6</issue><history><date date-type="pub"><published-time>2025-06-20</published-time></date></history><abstract>目的：探究MTHFR基因C677T突变位点对脑卒中患病风险的影响。方法：采用病例对照设计，收集郴州地区健康人群和脑卒中患者血样，运用琼脂凝胶电泳法及基因测序技术进行检测分析。结果：脑卒中组MTHFR &amp;nbsp; &amp;nbsp;C677T的CC型、CT型、TT型分布频率分别为67%、28%、5%，T等位基因频率为19%。脑卒中组CT基因型频率（28%）高于对照组（8%），CC基因型频率（67%）低于对照组（92%）。结论：郴州脑卒中病人的MTHFR &amp;nbsp; &amp;nbsp;C677T突变的T等位基因频率为19%，CT基因型人群患脑卒中风险更高。</abstract><keywords>缺血性脑卒中,MTHFR,基因型频率</keywords></article-meta></front><body/><back><ref-list><ref id="B1" content-type="article"><label>1</label><element-citation publication-type="journal"><p>[1]王拥军,李子孝,谷鸿秋等. 中国卒中报告2019(中文版)(1)[J].中国卒中杂志,2020,15:1037 - 1043.&amp;nbsp;[2]FAN S, YANG B, ZHI X, et al. Combined genotype and haplotype distributions of MTHFR C677T and A1298C polymorphisms: a cross - sectional descriptive study of&amp;nbsp;13473 Chinese adult women [J]. Medicine (Baltimore), 2016, 95 (48): e5355. DOI: 10.1097/MD.0000000000005355.&amp;nbsp;[3]翁秋燕,查芹,牛艳芳等. 宁波江北地区汉族青壮年亚甲基四氢叶酸还原酶基因C677T多态性和体力活动与缺血性脑卒中的关系[J]. 中国卫生检验杂志, 2021, 31: 4 - 9.&amp;nbsp;[4]朱娟娟,崇慧峰,胡志军,等.铜陵地区脑卒中病人MTHFR C677T基因多态性分布及同型半胱氨酸水平分析[J].安徽医药,2020,24(05):895 - 898.&amp;nbsp;[5]王超，于莲，季方茹，等.MTHFR基因多态性在黑龙江东部地区脑卒中患者的频率分析[J].黑龙江医药科学,2017,40(4):48 - 50.&amp;nbsp;</p><pub-id pub-id-type="doi"/></element-citation></ref></ref-list></back></article>
