中国南北方人群还原叶酸载体基因多态性分布研究  

Study on reduced folate carrier gene (RFC1) polymorphism in the southern and northern Chinese population

作　　者：裴丽君[1] 任爱国[1] 朱慧萍 郝玲[1] 赵文睿[1] 李竹[1] 侯广旺[3] 张伯兰 蒋琰瑛[5] 吴立民 潘玉娟 张梦兰 

机构地区：[1]北京大学医学部生育健康研究所卫生部生育健康重点实验室,100083 [2]美国得克萨斯州大学环境与遗传医学中心生物科学技术研究所 [3]河北省妇幼保健院 [4]河北省香河县妇幼保健院 [5]浙江省嘉兴市妇幼保健院 [6]浙江省平湖市妇幼保健院 [7]浙江省海盐县妇幼保健院 [8]江苏省太仓市妇幼保健院

出　　处：《中华流行病学杂志》2004年第6期499-502,共4页Chinese Journal of Epidemiology

基　　金：国家重点基础研究专项基金资助(G1999055905)

摘　　要：目的 描述中国人群还原叶酸载体(RFC1)基因型频率、等位基因频率在南北方、不同性别人群中的分布。方法 采用聚合酶链反应-限制性片段长度多态性方法,对720份正常人外周血片DNA进行RFC1第80位SNP检测。结果 北方人群RFC1(A80G)基因的AA、GG和GA基因型频率分别为22.28％、31.09％和46.63％,南方人群RFC1(A80G)基因型频率分别为18.56％、22.75％和58.68％,南北方基因型频率差异存在统计学意义(P<0.01)。南北方人群G等位基因频率(分别为52.10％和54.40％)差异无统计学意义(P>0.05);男性RFC1(A80G)基因的AA、GG和GA基因型频率分别为24.88％、25.85％和49.27％,女性分别为18.83％、27.77％和53.40％,不同性别人群RFC1基因型频率差异无统计学意义(P>0.05)。男女性别G等位基因频率(分别为50.49％和54.47％)差异无统计学意义(P>0.05)。结论 初步认为RFC1基因型分布与北方神经管畸形率高于南方的分布特点一致。人群RFC1基因型分布研究可为RFC1基因突变与叶酸代谢相关疾病病因研究假设提供遗传学数据。Objective To describe the distribution of reduced folate carrier gene(RFC1)genotype and allele frequency between southern and northarn,female and male Chinese population. Method RFC1 (A80G) genotype was detected, using polymerase chain reaction-restriction fragment length polymorphism (RFLP-PCR) on 720 blood spot DNA from the normal subjects. Results The frequencies of the northern population with AA, GG and GA genotypes were 22. 28%, 31. 09% and 46. 63%, and the frequencies of the southern population wer 18. 56%, 22. 75% and 58. 68%, respectively. Findings showed that there were significant differences between anthemers and northerners in RFC1(A80G) genotype(P<0.01). There was no significant difference between G allele frequency of the northern (52. 10%) and southern population (54. 40%). The frequencies of male with RFC1 (A80G) AA, GG and GA genotype were 24. 88%,25. 85% and 49. 27%, and among female were 18. 83%, 27. 77% and 53. 40%, respectively. There were no significant differences between male and famale in RFC1 genotype (P>0.05), or between G allele frequency in female (50. 49%) and that in male (54. 47%). Conclusions The distribution of RFC1 genoype seemed to be consistent with neural tube defects (NTDs) while its prevalence among the northerners was higher than that of amtherners,with female having a higher NTDs prevalence. This study provided genetic epidmiological data for etiological hgpthesis between RFC1 and diseases relative to folate metabolism.

关 键 词：中国南北方人群 还原叶酸载体 基因多态性 等位基因 基因频率 

分 类 号：Q987[生物学—遗传学]