[Two base deletion of the alpha (1,2) fucosyltransferase gene responsible for para-Bombay phenotype].
OBJECTIVE
To probe into the molecular genetics basis for para-Bombay phenotype.


METHODS
Red 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.


RESULTS
AG 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.


CONCLUSIONS
Two base deletion at position 547-552 of alpha (1,2) fucosyltransferase gene may cause para-Bombay phenotype.
Zhu
Fa-ming
FM
Blood Center of Zhejiang Province, Hangzhou, Zhejiang, 310006 PR China. zfm00@hotmail.com
Xu
Xian-guo
XG
Hong
Xiao-zhen
XZ
Yan
Li-xing
LX
D000017:ABO Blood-Group System / Q000235:genetics*; D005647:Fucosyltransferases / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D000097631:Galactoside 2-alpha-L-fucosyltransferase
D000017:ABO Blood-Group System; D005647:Fucosyltransferases; D000097631:Galactoside 2-alpha-L-fucosyltransferase