[Study on reduced folate carrier gene (RFC1) polymorphism in the southern and northern Chinese population].
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.
Pei
Li-Jun
LJ
Institute of Reproductive and Child Health, National Reference Laboratory on Reproductive Health Research Ministry of Health, Peking University, Beijing 100083, China.
Ren
Ai-Guo
AG
Zhu
Hui-Ping
HP
Hao
Ling
L
Zhao
Wen-Rui
WR
Li
Zhu
Z
Hou
Guang-Wang
GW
Zhang
Bo-Lan
BL
Jiang
Yan-Ying
YY
Wu
Li-Min
LM
Pan
Yu-Juan
YJ
Zhang
Meng-Lan
ML
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
D002352:Carrier Proteins; D008565:Membrane Proteins; D026901:Membrane Transport Proteins; D005492:Folic Acid; D042965:Methylenetetrahydrofolate Reductase (NADPH2)