Study on the frequency of alpha-1,2-fucosyltransferase gene h4 allele (C35T) in Chinese population.
- Author:
Xian-guo XU
1
;
Xiao-zhen HONG
;
Jun-jie WU
;
Kai-rong MA
;
Qi-hua FU
;
Li-xing YAN
Author Information
- Publication Type:Journal Article
- MeSH: ABO Blood-Group System; genetics; Alleles; Female; Fucosyltransferases; genetics; Gene Frequency; Genotype; Humans; Male; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length
- From: Chinese Journal of Medical Genetics 2005;22(6):657-660
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the h4 allele (C35T) frequency of alpha-1,2-fucosyltransferase gene in Chinese population.
METHODSThe polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method for identifying C35T variant was established by using PCR to amplify a 125 bp FUT1 gene fragment, including C35T variant sequence, and the PCR product was digested by Hae III restriction enzyme. One hundred and fifty-eight random samples from Chinese blood donor were screened by PCR-RFLP.
RESULTSAmong 158 Chinese individuals with normal ABO and H blood group phenotypes, 8 and 83 were homozygous with 35T/T and 35C/C, respectively, while 67 were heterozygous with 35C/T. The allele frequencies were compatible with Hardy-Weinberg equilibrium.
CONCLUSIONThe C35T substitution of FUT1 gene is not a mutation which gives rise to a non-functional h allele responsible for para-Bombay phenotype but a single nucleotide polymorphism in Chinese population.
