title: [Study on reduced folate carrier gene (RFC1) polymorphism in the southern and northern Chinese population].
abstract: OBJECTIVE
  To describe the distribution of reduced folate carrier gene (RFC1)genotype and allele frequency between southern and northern, female and male Chinese population.
  
  
  METHODS
  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 were 18.56%, 22.75% and 58.68%, respectively. Findings showed that there were significant differences between southerners 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 female 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 genotype seemed to be consistent with neural tube defects (NTDs) while its prevalence among the northerners was higher than that of southerners, with female having a higher NTDs prevalence. This study provided genetic epidemiological data for etiological hypothesis between RFC1 and diseases relative to folate metabolism.
authors.affiliation: Institute of Reproductive and Child Health, National Reference Laboratory on Reproductive Health Research Ministry of Health, Peking University, Beijing 100083, China.
authors.forename: Li-Jun
authors.initials: LJ
authors.lastname: Pei
authors.forename: Ai-Guo
authors.initials: AG
authors.lastname: Ren
authors.forename: Hui-Ping
authors.initials: HP
authors.lastname: Zhu
authors.forename: Ling
authors.initials: L
authors.lastname: Hao
authors.forename: Wen-Rui
authors.initials: WR
authors.lastname: Zhao
authors.forename: Zhu
authors.initials: Z
authors.lastname: Li
authors.forename: Guang-Wang
authors.initials: GW
authors.lastname: Hou
authors.forename: Bo-Lan
authors.initials: BL
authors.lastname: Zhang
authors.forename: Yan-Ying
authors.initials: YY
authors.lastname: Jiang
authors.forename: Li-Min
authors.initials: LM
authors.lastname: Wu
authors.forename: Yu-Juan
authors.initials: YJ
authors.lastname: Pan
authors.forename: Meng-Lan
authors.initials: ML
authors.lastname: Zhang
mesh_terms: D000483:Alleles; D002352:Carrier Proteins / Q000235:genetics* / Q000502:physiology; D002681:China / Q000208:ethnology; D005260:Female; D005492:Folic Acid / Q000378:metabolism*; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D026901:Membrane Transport Proteins; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D009154:Mutation / Q000235:genetics; D009436:Neural Tube Defects / Q000235:genetics; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D002352:Carrier Proteins; D008565:Membrane Proteins; D026901:Membrane Transport Proteins; D005492:Folic Acid; D042965:Methylenetetrahydrofolate Reductase (NADPH2)