文章摘要
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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