Analysis of alpha-1,2-fucosyltransferase gene mutations in a Chinese family with para-Bombay phenotype.
- Author:
Xian-guo XU
1
,
2
;
Xiao-zhen HONG
;
Ying LIU
;
Yan-ling YING
;
Su-dan TAO
;
Yan-min HE
;
Fa-ming ZHU
;
Hang-jun LV
;
Li-xing YAN
Author Information
- Publication Type:Journal Article
- MeSH: ABO Blood-Group System; genetics; Alleles; Female; Fucosyltransferases; genetics; Gene Frequency; genetics; Haplotypes; genetics; Humans; Male; Mutation; Pedigree; Sequence Analysis, DNA
- From: Chinese Journal of Medical Genetics 2010;27(3):250-254
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the molecular genetic basis of para-Bombay phenotype in a Chinese family.
METHODSABO 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.
RESULTSThree 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.
CONCLUSIONA novel 235G>C mutation of FUT1 gene which was associated with para-Bombay phenotype was found in the Chinese pedigree.
