[Study on the frequency of alpha-1,2-fucosyltransferase gene h4 allele (C35T) in Chinese population].
OBJECTIVE
To investigate the h4 allele (C35T) frequency of alpha-1,2-fucosyltransferase gene in Chinese population.


METHODS
The 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.


RESULTS
Among 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.


CONCLUSIONS
The 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.
Xu
Xian-guo
XG
Institute of Transfusion Medicine, Blood Center of Zhejiang Province, P. R. China.
Hong
Xiao-zhen
XZ
Wu
Jun-jie
JJ
Ma
Kai-rong
KR
Fu
Qi-hua
QH
Yan
Li-xing
LX
D000017:ABO Blood-Group System / Q000235:genetics*; D000483:Alleles; D005260:Female; D005647:Fucosyltransferases / Q000235:genetics*; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D000097631:Galactoside 2-alpha-L-fucosyltransferase
D000017:ABO Blood-Group System; D005647:Fucosyltransferases; D000097631:Galactoside 2-alpha-L-fucosyltransferase