[Analysis of alpha-1,2-fucosyltransferase gene mutations in a Chinese family with para-Bombay phenotype].
OBJECTIVE
To investigate the molecular genetic basis of para-Bombay phenotype in a Chinese family.


METHODS
ABO and H phenotypes of the proband and his pedigree were characterized by serological techniques. The exons 6 and 7 of the ABO gene and full coding region of alpha-1,2-fucosyltransferase (FUT1) gene of the pedigree were analyzed by polymerase chain reaction and direct sequencing of the amplified fragments. The haplotypes of compound heterozygote of the FUT1 gene were also analyzed by cloning sequencing.


RESULTS
Three para-Bombay phenotypes were identified in nine family members by serological technology. Three heterozygous variants (35C/T, 235G/C and 682A/G) were found in FUT1 gene of the proband, and the hapotype of FUT1 gene was h(235C)/h(35T+628G)according to the cloning sequencing. The alleles h(235C)and h(35T+628G) caused G79R, A12V and M228V amino acid substitutions in alpha-1,2-fucosyltransferase, respectively.


CONCLUSIONS
A novel 235G>C mutation of FUT1 gene which was associated with para-Bombay phenotype was found in the Chinese pedigree.
Institute of Transfusion Medicine, Blood Center of Zhejiang Province; Key Laboratory of Blood Safety Research, Ministry of Health, Hangzhou, Zhejiang, 310006 PR China.
Xian-guo
XG
Xu
Xiao-zhen
XZ
Hong
Ying
Y
Liu
Yan-ling
YL
Ying
Su-dan
SD
Tao
Yan-min
YM
He
Fa-ming
FM
Zhu
Hang-jun
HJ
Lv
Li-xing
LX
Yan
D000017:ABO Blood-Group System / Q000235:genetics*; D000483:Alleles; D005260:Female; D005647:Fucosyltransferases / Q000235:genetics*; D005787:Gene Frequency / Q000235:genetics; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D017422:Sequence Analysis, DNA; D000097631:Galactoside 2-alpha-L-fucosyltransferase
D000017:ABO Blood-Group System; D005647:Fucosyltransferases; D000097631:Galactoside 2-alpha-L-fucosyltransferase