CAJ | 학술논문

目的：分析眉山市汉族女性叶酸代谢相关酶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）的基因多态性及地区分布特征，为出生缺陷的个体化防治提供依据。方法收集656例眉山市汉族女性口腔黏膜上皮细胞，荧光定量PCR法分析其MTHFR 677位点、1298位点和MTRR 66位点的基因多态性并与济源、烟台、琼海、延边等地区比较；并分析MTHFR C677 T和A1298 C两位点连锁情况及单倍型。结果眉山市MTHFR 677位点的CC、CT、TT基因型的频率分别为36．3％、46．0％、17．7％，TT纯合突变型频率低于济源、烟台、延边；高于荆州、德阳、惠州、琼海， P 均＜0．05。 MTHFR 1298位点AA、AC、CC 基因型的频率分别为65．2％、31．3％和3．5％，CC型频率高于济源、烟台地区；低于琼海地区， P均＜0．05。 MTRR 66位点AA、AG、GG基因型的频率分别为56．5％、36．4％、7．0％，GG型频率高于延边、琼海地区， P均＜0．05。 MTHFR C677T和A1298C两位点组合情况为TA（41．8％）、TC（0．2％）、CA（39．2％）、CC（18．9％）。两位点间完全连锁不平衡（D′＝0．977，r2＝0．162）。结论眉山市汉族女性MTHFR 677基因型TT频率、MTHFR 1298位点CC基因型频率较高，其MTHFR、MTRR基因的遗传多态性分布有显著的地域特征。
목적：분석미산시한족녀성협산대사상관매5，10-아갑기사경협산환원매（ MTHFR）화갑류안산합성매환원매（ MTRR）적기인다태성급지구분포특정，위출생결함적개체화방치제공의거。방법수집656례미산시한족녀성구강점막상피세포，형광정량PCR법분석기MTHFR 677위점、1298위점화MTRR 66위점적기인다태성병여제원、연태、경해、연변등지구비교；병분석MTHFR C677 T화A1298 C량위점련쇄정황급단배형。결과미산시MTHFR 677위점적CC、CT、TT기인형적빈솔분별위36．3％、46．0％、17．7％，TT순합돌변형빈솔저우제원、연태、연변；고우형주、덕양、혜주、경해， P 균＜0．05。 MTHFR 1298위점AA、AC、CC 기인형적빈솔분별위65．2％、31．3％화3．5％，CC형빈솔고우제원、연태지구；저우경해지구， P균＜0．05。 MTRR 66위점AA、AG、GG기인형적빈솔분별위56．5％、36．4％、7．0％，GG형빈솔고우연변、경해지구， P균＜0．05。 MTHFR C677T화A1298C량위점조합정황위TA（41．8％）、TC（0．2％）、CA（39．2％）、CC（18．9％）。량위점간완전련쇄불평형（D′＝0．977，r2＝0．162）。결론미산시한족녀성MTHFR 677기인형TT빈솔、MTHFR 1298위점CC기인형빈솔교고，기MTHFR、MTRR기인적유전다태성분포유현저적지역특정。
Objective To explore the gene polymorphisms and area distribution of 5,10-methylenetetrahydrofolate re-ductase ( MTHFR) and methionine synthase reductase ( MTRR) involved in the folic acid biosynthetic pathway in women of Han nationality and to provide evidence for the prevention of individual birth defects .Methods A total of 656 cases of o-ral mucosa epithelial cells were recruited from women of Han nationality in Meishan of Sichuan province .The gene polymor-phisms of MTHFR 677 site, 1298 site and MTRR 66 site were analyzed by fluorogenic quantitative PCR , and then were compared with other regions of China ( Jiyuan, Yantai, Qionghai and Yanbian ).The chain and haplotype of MTHFR C677 T and A1298 C were also analyzed .Results Among the Han gestational age women of Meishan , the frequencies of MTHFR 677 genotypes CC, CT and TT were 36.3%, 46%and 17.7%, respectively;and the frequency of MTHFR 677 TT genotype was lower than that of Jiyuan , Yantai and Yanbian (all P<0.05), while higher than that in Jingzhou , Dey-ang, Huizhou and Qionghai (all P<0.05).The frequencies of MTHFR 1298 genotypes AA, AC and CC were 65.2%, 31.3%and 3.5%, repectivly;and the frequency of MTHFR 1298 CC genotype was higher than that in Jiyuan and Yan-Tai, and lower than that in Qionghai (all P<0.05).The frequencies of MTRR 66 genotypes AA, AG and GG were 56.5%, 36.4%and 7.0%; and the frequency of MTRR 66GG genotype was higher than that in Yanbian and Qionghai (all P<0.05).The combinations of MTHFR C677T and A1298C were TA (41.8%), TC (0.2%), CA (39.2%) and CC (18.9%).The complete linkage disequilibrium was found between the two sites (D′=0.977, r2 =0.162).Conclu-sion The frequencies of MTHFR 677TT and 1298CC were high, and the gene polymorphism distribution of MTHFR and MTRR in women of Meishan was statistically different from the other regions of China .