| 裴丽君,任爱国,朱慧萍,郝玲,赵文睿,李竹,侯广旺,张伯兰,蒋琰瑛,吴立民,潘玉娟,张梦兰.中国南北方人群还原叶酸载体基因多态性分布研究[J].中华流行病学杂志,2004,25(6):499-501,302 |
| 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 |
| 收稿日期:2003-07-03 出版日期:2014-09-17 |
| DOI： |
| 中文关键词: 还原叶酸载体基因;基因多态性;遗传流行病学 |
| 英文关键词: Reduced folate carrier gene;Gene polymorphism;Genetic epidemiology |
| 基金项目:国家重点基础研究专项基金资助(G1999055905) |
| 作者 | 单位 | | 裴丽君 | 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 | | 任爱国 | 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 | | 朱慧萍 | 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 | | 郝玲 | 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 | | 赵文睿 | 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 | | 李竹 | 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 | | 侯广旺 | 河北省妇幼保健院 | | 张伯兰 | 河北省香河县妇幼保健院 | | 蒋琰瑛 | 浙江省嘉兴市妇幼保健院 | | 吴立民 | 浙江省平湖市妇幼保健院 | | 潘玉娟 | 浙江省海盐县妇幼保健院 | | 张梦兰 | 江苏省太仓市妇幼保健院 |
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| 中文摘要: |
| 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。 |
| 英文摘要: |
| 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(P0.01).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 (P0.05),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. |
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