Two base deletion of the alpha (1,2) fucosyltransferase gene responsible for para-Bombay phenotype.
- Author:
Fa-ming ZHU
1
;
Xian-guo XU
;
Xiao-zhen HONG
;
Li-xing YAN
Author Information
- Publication Type:Journal Article
- MeSH: ABO Blood-Group System; genetics; Fucosyltransferases; genetics; Humans; Male; Mutation; Phenotype
- From: Chinese Journal of Medical Genetics 2004;21(3):215-218
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo probe into the molecular genetics basis for para-Bombay phenotype.
METHODSRed blood cell phenotype of the proband was characterized by serological techniques. Exons 6 and 7 of ABO gene, the entire coding region of alpha(1,2) fucosyltransferase (FUT1) gene and FUT2 gene were amplified by polymerase chain reaction (PCR) from genomic DNA of the proband respectively. The PCR products were excised and purified from agarose gels and were directly sequenced.
RESULTSAG at 547-552 deletion homozygous allele was found in the proband, which caused a reading frame shift and a premature stop codon. Parents of proband were heterozygous carriers.
CONCLUSIONTwo base deletion at position 547-552 of alpha (1,2) fucosyltransferase gene may cause para-Bombay phenotype.
