摘要
目的针对内蒙古准格尔旗汉族和蒙古族女性开展分子流行病学调查,探讨叶酸代谢关键酶5,10-亚甲基四氢叶酸还原酶(MTHFR)和甲硫氨酸合成酶还原酶(MTRR)的基因多态性分布情况。方法选取2022年1-9月在准格尔旗妇幼保健院进行产检的健康女性521例为研究对象,其中汉族451例、蒙古族70例。采集口腔黏膜细胞,提取人体DNA,采用荧光定量PCR方法检测MTHFR C677T/A1298C和MTRR A66G基因位点,并进行统计学分析比较。结果入组对象的基因多态性分布符合遗传平衡。汉族女性MTHFR 677CC、CT及TT的基因型频率分别为29.9%、47.9%及22.2%,蒙古族女性为40.0%、38.6%及21.4%;汉族女性MTHFR 1298AA、AC及CC的基因型频率分别为68.5%、27.3%及4.2%,蒙古族女性为68.6%、22.9%及8.6%;汉族女性MTRR 66AA、AG及GG的基因型频率分别为53.2%、40.4%及6.4%,蒙古族女性为47.1%、40.0%及12.9%。汉族女性MTHFR C677T的C等位基因频率为53.9%,T等位基因频率为46.1%;MTHFR A1298C的A等位基因频率为82.2%,C等位基因频率为17.8%;MTRR A66G的A等位基因频率为73.4%,G等位基因频率为26.6%。蒙古族女性MTHFR C677T的C等位基因频率为59.3%,T等位基因频率为40.7%;MTHFR A1298C的A等位基因频率为80.0%,C等位基因频率为20.0%;MTRR A66G的A等位基因频率为67.1%,G等位基因频率为32.9%。汉族和蒙古族女性的基因型频率和等位基因频率比较,差异均无统计学意义(均P>0.05)。汉族和蒙古族女性MTHFR C677T与A1298C两位点连锁有6种组合,频率前2位的组合是CT/AA和TT/AA,没有CT/CC、TT/AC及TT/CC组合。汉族、蒙古族女性MTHFR C677T和A1298C单倍型均存在TA、CA及CC 3种组合,汉族中TA(46.2%)、CA(36.0%)、CC(17.8%),两位点间存在完全连锁不平衡(D′=1.0,r^(2)=0.186),蒙古族中TA(40.7%)、CA(39.3%)、CC(20.0%),同时两位点间也存在完全连锁不平衡(D′=1.0,r^(2)=0.172)。结论获取准格尔旗汉族、蒙古族女性MTHFR和MTRR基因多态性的群�
Objective To conduct a molecular epidemiological survey on Han and Mongolian women in Jungar Banner,Inner Mongo-lia,and to study the genetic polymorphism distribution of key folate metabolism enzymes 5,10-methylenetetrahydrofolate reductase(MTHFR)and methionine synthase reductase(MTRR).Methods 521 healthy women who went to Jungar Banner Maternal and Child Health Hospital for prenatal examination from January to September 2022 were selected as the study subjects,including 451 Han and 70 Mongols.Collect oral mucosal cells,extract human DNA,and use fluorescence quantitative PCR to detect MTHFR C677T/A1298C and MTRR A66G gene loci,and perform statistical analysis and comparison.Results The genetic polymorphism distribution of the enrolled ob-jects was consistent with genetic balance.The genotype frequencies of MTHFR 677CC,CT,and TT of Han women are 29.9%,47.9%and 22.2%,and the Mongolian women are 40.0%,38.6%and 21.4%;the MTHFR 1298AA,AC,and CC genotypes of Han women The fre-quencies were 68.5%,27.3%and 4.2%,Mongolian women were 68.6%,22.9%and 8.6%;Han women genotype frequencies of MTRR 66AA,AG,GG were 53.2%,40.4%and 6.4%,Mongolian Females were 47.1%,40.0%and 12.9%.Among Han women,the fre-quencies of MTHFR C677T C allele and T allele were 53.9%and 46.1%,respectively;the frequencies of MTHFR A1298C A allele and C allele were 82.2%and 17.8%,respectively;the frequencies of MTRR A66G A allele and G allele were 73.4%and 26.6%,respectively.Among Mongolian women,the frequencies of MTHFR C677T C allele and T allele were 53.9%and 40.7%,respectively;the frequencies of MTHFR A1298C A allele and C allele were 80.0%and 20.0%,respectively;the frequencies of MTRR A66G A allele and G allele were 67.1%and 32.9%,respectively.There was no significant difference in genotype frequency and allele frequency between Han and Mongolian women(P>0.05).There were 6 combinations of MTHFR C677T and A1298C in the Han and Mongolian women.The combinations of the top two frequencies were CT/AA and TT/AA.There was no CT/CC,TT/AC and TT/CC combination.Th
作者
王孝文
黄际萍
苏静
李帅
薛颖
樊媛
鲁衍强
胡季芳
陶海霞
WANG Xiao-wen;HUANG Ji-ping;SU Jing;LI Shuai;XUE Ying;FAN Yuan;LU Yan-qiang;HU Ji-fang;TAO Hai-xia(Maternal and Child Health Care Hospital of Jungar Banner,Ordos,Inner Mongolia 010399,China;不详)
出处
《中国妇幼保健》
CAS
2023年第18期3577-3580,共4页
Maternal and Child Health Care of China
基金
中国疾病预防控制中心妇幼保健中心妇幼保健分子遗传医学研究专项计划(FY-ZX-ZD-0389)。
