[1]曹云,周晓,张晓艳,等.陕西省延安地区育龄女性MTHFR基因多态性和国内多地区相关报道比较分析2)[J].现代检验医学杂志,2019,34(01):62-66.[doi:10.3969/j.issn.1671-7414.2019.01.016]
　CAO Yun,ZHOU Xiao,ZHANG Xiao-yan,et al.Comparative Analysis of MTHFR Gene Polymorphisms in Women of Childbearing Age in Yan’an Area of Shaanxi Province and Related Reports in Many Regions in China[J].Journal of Modern Laboratory Medicine,2019,34(01):62-66.[doi:10.3969/j.issn.1671-7414.2019.01.016]
点击复制

陕西省延安地区育龄女性MTHFR基因多态性和国内多地区相关报道比较分析2)()
分享到：

《现代检验医学杂志》[ISSN:/CN:]

卷:
第34卷
期数:
2019年01期
页码:
62-66
栏目:
论著
出版日期:
2019-02-28

文章信息/Info

Title:
Comparative Analysis of MTHFR Gene Polymorphisms in Women of Childbearing Age in Yan’an Area of Shaanxi Province and Related Reports in Many Regions in China
文章编号:
1671-7414( 2019)01-062-05
作者:
曹云1; 周晓2; 张晓艳1; 李帅1; 何进伟2;  庞宝华2
(1.延安市人民医院检验科，陕西延安716000；2.延安大学医学院，陕 西延安716000)
Author(s):
CAO Yun1; ZHOU Xiao2; ZHANG Xiao-yan1; LI Shuai 1; HE Jin-wei2; PANG Bao-hua2
(1.Department of Clinical Laboratory，the People’s Hospital of Yan’an，Shaanxi Yan’an 716000，China；2.Yan’an University School of Medicine，Shaanxi Yan’an 7 16000，China)
关键词:
亚甲基四氢叶酸还原酶; 基因多态性; 叶酸
分类号:
R714.1；Q786
DOI:
10.3969/j.issn.1671-7414.2019.01.016
文献标志码:
A
摘要:
目的分析陕西省延安地区育龄女性叶酸代谢关键酶亚甲基 四氢叶酸还原酶(MTHFR)的基因多态性及地区遗传分布特征。方法 以延安市第二医疗集团1 508例育龄女性为研究对象，用荧光定量PCR法检测其MTHFR C677T ，A1298C基因位点多态性，并和国内多地区相关报道比较分析。结果”K 该地区三种表现型正常型、较弱型和弱型分别占22.5%，50.7%和26.8%。MTHFR C677T 位点CC，CT和TT基因频率分别为24.7%，48.6%和26.7%；MTHFR A1298C位点AA，AC和CC基 因频率分别为71.0%，26.7%和2.3%，与已报道的南方城市湘潭、武汉、南宁等地区相比 ，差异均有统计学意义( P <0.05)。MTHFR C677T和A1298C等位基因分布情况与其基因型 分布情况类似。结论该地区育龄女性MTHFR基因以基因型(MTHFR C6 77T/A1298C)CT/AA型为主，MTHFR C677T TT纯合突变型呈现北高南低的趋势，其T等位基因 频率也呈现随纬度的递减而降低的走向。
Abstract:
Objective To analyze the gene polymorphisms of 5，10-methylenetetrahydrofolate reductase (MTHFR)，a key enzyme in folate metab olism，and its genetic distribution in women of childbearing age in Yan’an area ．Methods A total of 1 508 women of childbearing age in Y an’an Second Medical Group were selected as the study subjects．Their MTHFR C6 77T and MTHFR A1298C gene locus polymorphisms were analyzed by fluorescent quant itative PCR and analyzed．Regional polymorphism distribution characteristics of the genes，and compared with related reports in various regions of China． Results The gene expression pattern of folicacid metabolizing enzyme was 22.5% for women of reproductive age in Yan’an and 50.7% for weaker ．26.8% of the phenotypes were weak．The frequencies of CC，CT and TT genes of MTHFR 677 in Yan’an were 24.7%，48.6% and 26.7%，respectively．The frequenci es of AA，AC and CC genes in 1 298 MTHFR sites in Yan’an were 71.0%，26.7% an d 2.3%，respectively．There was a statistically significant difference in gene distribution among Xiangtan，Wuhan and Nanning，etc ( P <0.05)．The distribut ion of the alleles MTHFR C677T and A1298C was similar to that of their genotypes ．Conclusion The polymorphism of MTHFR gene in women of c hildbearing age in Yan’an Area in Shaanxi Province was dominated by the genotyp e (MTHFR C677T/A1298C) CT/AA type，and the pure mutation of MTHFR C67T TT showed a trend of high North and low South，and the gene frequency of allele T also sh owed a trend of decreasing with the decrease of latitude．

参考文献/References:


[1］WU Xiaoming，WANG Xiaohuan，CHAN Ying，et al．Folate metabolism g ene polymorphisms MTHFR C677T and A1298C and risk for Down syndrome offspring：a meta-analysis［J］．Eur J Obstet Gynecol Reprod Biol，2013，167(2)：154-159．
[2］谢晓媛，张颖，辛力，等．叶酸代谢酶MTHFR，MTRR基因多态性与原因不明复发性流 产的关系［J］．天津医药，2016，44(10)：1243-1246． XIE Xiaoyuan，ZHANG Ying，XIN Li，et al．The relationship of the fol ate metabolism gene polymorphisms of MTHFR and MTRR with unexplained recurrent s pontaneous abortion［J］．Tianjin Medicine Journal，2016，44(10)：1243-1246．
[3］LI Xiujuan，JIANG Jing，XU Min，et al．Individualized supplementation of folic acid according to polymorphisms of methylenetetra-hydrofolate reductase(M THFR)，methionine synthase reductase(MTRR) reduced pregnant complications［J］． Gynecol Obstet Invest，2015，79(2)：107-112．
[4］郝友瑛，赵红，鲁衍强，等．新疆维吾尔族和汉族女性MTHFR和MTRR基因单核苷酸多 态性比较［J］．中国妇幼保健，2014，29(21)：3495-3497． HAO Youying，ZHAO Hong，LU Yanqiang，et al．Comparison single nucleo tide polymorphisms of MTHFR gene and MTRR gene between Uygur women and Han wome n［J］．Maternal and Child Health Care of China，2014，29(21)：3495-3497．
[5］李桂华，鲁衍强，李瑛，等．辽源市汉族女性MTHFR和MTRR的遗传多态性分析［J］ ．中国妇幼保健，2016，31(10)：2130-2132． LI Guihua，LU Yanqiang，LI Ying，et al．Analysis on genetic polymorp hisms of MTHFR and MTRR among Han women in Liaoyuan city［J］．Maternal and Chil d Health Care of China，2016，31(10)：2130-2132．
[6］李俊华，鲁衍强，马少杰，等．廊坊市汉族女性MTHFR与MTRR基因多态性分析［J］ ．基础医学与临床，2014，34(11)：1564-1565． LI Junhua，LU Yanqiang，MA Shaojie，et al．Analysis of MTHFR and MTR R gene polymorphism in Han women in Langfang city［J］．Basic and Clinical Medci ne，2014，34 (11)：1564-1565．
[7］严倩，鲁衍强，李瑛，等．烟台市汉族女性MTHFR和MTRR基因多态性的分布特征［J ］．山东大学学报(医学版)，2014，52(1)：79-84． YAN Qian，LU Yanqiang，LI Ying，et al．Polymorphisms of MTHFR and MT RR in women of Chinese Han population in Yantai city［J］．Journal of Shandong U niversity(Health Sciences)，2014，52(1)：79-84．
[8］王淑媛，鲁衍强，马少杰，等．湘潭市汉族女性MTHFR和MTRR基因多态性分布及其与 血浆Hcy水平的关系［J］．天津医药，2014，42(12)：1205-1209． WANG Shuyuan，LU Yanqiang，MA Shaojie，et al．Relationship of plasma homocysteine with gene polymorphisms of MTHFR and MTRR among Han women in Xiang tan city［J］．Tianjin Medicine Journal，2014，42(12)：1205-1209．
[9］王维鹏，鲁衍强，芮欣忆，等．湖北省汉族女性亚甲基四氢叶酸还原酶和甲硫氨酸 合成酶还原酶基因多态性分布研究［J］．中国妇幼保健，2013，28(1)：140-143． WANG Weipeng， LU Yanqiang， RUI Xinyi，et al．Study on the distribu tion of gene polymorphism of methylenetetrahydrofolate reductase and methionine synthase reductase among the Han women in Hubei province［J］．Maternal and Chil d Health Care of China，2013，28(1)：140-143．
[10］万莉娟，鲁衍强，芮欣忆，等．云南省汉族女性亚甲基四氢叶酸还原酶和 甲硫氨酸合成酶还原酶基因多态性分布研究［J］．中国现代医学杂志，2013，23(5)：46- 50． WAN Lijuan，LU Yanqiang，RUI Xinyi，et al．Study on methylenetetrahydrofol ate reductase and methionine synthase reductase polymorphisms among the Han wome n in Yunnan province［J］．China Journal of Modern Medicine，2013，23(5)：46-50 ．
[11］蒋武，鲁衍强，李瑛，等．南宁市壮族和汉族女性M-THFR和MTRR基因单核苷酸多 态性比较［J］．广西医学，2014，36(11)：1517-1519． JIANG Wu，LU Yanqiang，LI Ying，et al．A comparison of single nucleotide p olymorphisms of MTHFR and MTRR in women between Chinese Zhuang and Han populatio n in Nanning city［J］．Guangxi Medical Journal，2014，36(11)：1517-1519．
[12］颜珠苗，鲁衍强，李瑛，等．琼海市汉族女性MTHFR 和MTRR基因多态性分布研究［ J］．海南医学院学报，2013，19(1)：18-20． YAN Zhumiao，LU Yanqiang，LI Ying，et al．Polymo-rphisms of MTHFR and MTR R among the Han nationality women in Qionghai city［J］．Journal of Hainan Medic al University，2013，19(1)：18-20．
[13］卫生部．中国出生缺陷防治报告(2012)［J］．中国药 房，2012，23(39)：3693． Ministry of Health．Report on prevention and control of birth defects in C hina(2012)［J］．China Pharmacy，2012，23(39)：3693．
[14］黄娟娟，岳红云，张娟，等．MTHFR(C677T A1298C和G1793A)基因多态性对死胎的 影响［J］．现代检验医学杂志，2017，32(1)：72-76． HUANG Juanjuan，YUE Hongyun，ZHANG Juan，et al．Effect of polymorphisms of the methylenetetrahydrofolate reductase gene(C677T A1298C and G1793A) on stillb irth［J］．J Mod Lab Med，2017，32(1)：72-76．
[15］罗丽，陈岳明，王贤军．叶酸代谢基因多态性与出生缺陷的关系［J］．国际妇产 科学杂志，2015，42(4)：421-424． LUO Li，CHEN Yueming，WANG Xianjun．Advan-ces in the relationship between polymorphisms of genes involved in the folate metabolic pathway and birth defec ts［J］．Journal of International Obstetrics and Gynecology，2015，42(4)：421-4 24．
[16］归巧娣，苍金荣，宫艳艳，等．西安地区育龄妇女M-THFR C677T基因型发布研究 ［J］．现代检验医学杂志，2017，32(1)：72-76． GUI Qiaodi，CANG Jinrong，GONG Yanyan，et al．Geographical distribution of MTHFR C677T gene among the gestational age women in Xi’an［J］．J Mod Lab Med ，2017，32(1)：72-76．

相似文献/References:

[1]陈晓露.白细胞介素4基因多态性与结直肠癌的易感性[J].现代检验医学杂志,2015,30(05):105.[doi:10.3969/j.issn.1671-7414.2015.05.032]
　CHEN Xiao-lu.Interleukin-4 Gene Polymorphisms and Colorectal Cancer Susceptibility[J].Journal of Modern Laboratory Medicine,2015,30(01):105.[doi:10.3969/j.issn.1671-7414.2015.05.032]
[2]朱琴芳,丁倩倩,俞钱,等.CD40-1C/T基因多态性与系统性红斑狼疮的相关性研究[J].现代检验医学杂志,2015,30(06):46.[doi:10.3969/j.issn.1671-7414.2015.06.013]
　ZHU Qin-fang,DING Qian-qian,YU Qian,et al.Association of CD40 Gene Polymorphism with the Systemic Lupus Erythematosus[J].Journal of Modern Laboratory Medicine,2015,30(01):46.[doi:10.3969/j.issn.1671-7414.2015.06.013]
[3]黄生金,郑利平,陆俊佳,等.广西地区壮族和汉族冠心病患者胱抑素C水平及其基因多态性的比较研究[J].现代检验医学杂志,2017,32(03):26.[doi:10.3969/j.issn.1671-7414.2017.03.007]
　HUANG Sheng-jin,ZHENG Li-ping,LU Jun-jia,et al.Comparative Study of Cystatin C and Its Gene Polymorphism of Pati ents with Coronary Heart Disease between Zhuang and Han in Guangxi Region[J].Journal of Modern Laboratory Medicine,2017,32(01):26.[doi:10.3969/j.issn.1671-7414.2017.03.007]
[4]李雅静,张 瑞,吴 欣,等.H型高血压并发缺血性脑卒中患者MTHFR C677T基因多态性及血清Hcy水平的相关性研究[J].现代检验医学杂志,2019,34(02):9.[doi:10.3969/j.issn.1671-7414.2019.02.003]
　LI Ya-jing,ZHANG Rui,WU Xin,et al.Relationship between MTHFR C677T Gene Polymorphismsand Serum Hcy Level in H Type Hypertension with Ischemic Stroke[J].Journal of Modern Laboratory Medicine,2019,34(01):9.[doi:10.3969/j.issn.1671-7414.2019.02.003]
[5]张 燕,王伟红,郝万鹏.乌鲁木齐汉族妇女亚甲基四氢叶酸还原酶基因变异与血清叶酸和同型半胱氨酸水平的相关性研究[J].现代检验医学杂志,2019,34(05):98.[doi:10.3969/j.issn.1671-7414.2019.05.024]
　ZHANG Yan,WANG Wei-hong,HAO Wan-peng.Study on the Correlation between the Variation of Methylenetetrahydrofolate Reductase Gene and Folate and Homocysteine in Urumqi Han Women[J].Journal of Modern Laboratory Medicine,2019,34(01):98.[doi:10.3969/j.issn.1671-7414.2019.05.024]
[6]滕祥云,王新梦,刘　维,等.中国汉族结直肠癌患者 UGT1A1*28基因多态性分析[J].现代检验医学杂志,2019,34(06):20.[doi:10.3969 ／ j.issn.1671-7414.2019.06.005]
　TENG Xiang-yun,WANG Xin-meng,LIU Wei,et al.Polymorphism of UGT1A1*28 Gene in Han Patients with Colorectal Cancer in China[J].Journal of Modern Laboratory Medicine,2019,34(01):20.[doi:10.3969 ／ j.issn.1671-7414.2019.06.005]
[7]周　琰,王蓓丽,张春燕,等.消化道肿瘤患者MTHFR 基因多态性与5- 氟尿嘧啶化疗不良反应的相关性研究[J].现代检验医学杂志,2020,35(03):1.[doi:10.3969/j.issn.1671-7414.2020.03.001]
　ZHOU Yan,WANG Bei-li,ZHANG Chun-yan,et al.Relationship between MTHFR Gene Polymorphisms and Adverse Events by 5-FU in Gastrointestinal Cancer[J].Journal of Modern Laboratory Medicine,2020,35(01):1.[doi:10.3969/j.issn.1671-7414.2020.03.001]
[8]洪雄新,李观强,杨 辉,等.2 型糖尿病患者ABCA1 R219K 基因多态性分布及其与血脂水平的相关性研究[J].现代检验医学杂志,2020,35(04):14.[doi:10.3969/j.issn.1671-7414.2020.04.004]
　HONG Xiong-xin,LI Guan-qiang,YANG Hui,et al.Study on Distribution of ABCA1 R219K Gene Polymorphism and Its Correlation with Blood Lipid Levels for Type 2 Diabetes Mellitus Patients[J].Journal of Modern Laboratory Medicine,2020,35(01):14.[doi:10.3969/j.issn.1671-7414.2020.04.004]
[9]杨小柯,何柳媚,全湛柔,等.深圳地区人群乙型肝炎病毒携带者HLA-DRB1 等位基因多态性及关联性分析[J].现代检验医学杂志,2020,35(05):5.[doi:10.3969/j.issn.1671-7414.2020.05.002]
　YANG Xiao-ke,HE Liu-mei,QUAN Zhan-rou,et al.Analysis of Allelic Polymorphism and Association of HLA-DRB1 in Hepatitis B Virus Carriers in Shenzhen[J].Journal of Modern Laboratory Medicine,2020,35(01):5.[doi:10.3969/j.issn.1671-7414.2020.05.002]
[10]张姝,罗洁,许琦,等.贵州地区汉族阿尔茨海默症患者CYP2C19 基因多态性及代谢表型分析[J].现代检验医学杂志,2020,35(05):13.[doi:10.3969/j.issn.1671-7414.2020.05.004]
　ZHANG Shu,LUO Jie,XU Qi,et al.Analysis of CYP2C19 Gene Polymorphism and Metabolic Phenotype in Alzheimerdisease Patients of Han Nationality in Guizhou[J].Journal of Modern Laboratory Medicine,2020,35(01):13.[doi:10.3969/j.issn.1671-7414.2020.05.004]
[11]师文涛,白 蓉,黄剑林,等.陕西省延安地区汉族与国内其他地区育龄妇女 MTHFR 基因 C677T 位点基因型和等位基因分布研究[J].现代检验医学杂志,2020,35(06):78.[doi:doi:10.3969/j.issn.1671-7414.2020.06.019]
　SHI Wen-tao,BAI Rong,HUANG Jian-lin,et al.Comparative Study on MTHFR Gene C677T Locus Genotype and AlleleDistribution between Han Nationality and Women of ChildbearingAge in Yan’an Area of Shaanxi Province[J].Journal of Modern Laboratory Medicine,2020,35(01):78.[doi:doi:10.3969/j.issn.1671-7414.2020.06.019]
[12]薛飞肖,李琼阁,宁 可,等.MTHFR 基因多态性与糖尿病周围神经病发生风险的meta 分析[J].现代检验医学杂志,2023,38(05):142.[doi:10.3969/j.issn.1671-7414.2023.05.027]
　XUE Feixiao,LI Qiongge,NING Ke,et al.Risk of MTHFR Gene Polymorphism and Diabetic Peripheral Neuropathy： A Meta-Analysis[J].Journal of Modern Laboratory Medicine,2023,38(01):142.[doi:10.3969/j.issn.1671-7414.2023.05.027]

备注/Memo

备注/Memo:
基金项目：延安市科技攻关计划项目(2018KS-15)。
作者简介：曹云(1964-)，女，本科，主任检验师，主要从事临 床检验质量控制及管理工作，E-mail：cy8156@126.com。
通讯作者：张晓艳，女，硕士研究生，主要从事临床检验诊断学 工作，E-mail：15829597282@163.com。
更新日期/Last Update: 2019-02-28