[One base deletion of the alpha(1,4) galactosyltransferase gene responsible for p phenotype].
OBJECTIVE
To study the molecular genetic basis for p phenotype.


METHODS
Red blood cell phenotype of the proband was characterized by standard serological technique. Exon 3 of the alpha (1,4) galactosyltransferase gene was amplified by polymerase chain reaction from genomic DNA of the proband. The amplified PCR products were excised and purified from agarose gels and direct sequenced.


RESULTS
Homozygous single nucleotide G deletion at position 300 or 301 was found in the proband, which caused a reading frame shift at codon 101,resulting in a premature stop at codon 113. Parents of the proband were heterozygous carriers.


CONCLUSIONS
A novel single guanosine deletion at position 300 or 301 of alpha (1,4) galactosyltransferase gene was determined, which may be one facet of the molecular basis for p phenotype.
Yan
Li-xing
LX
Blood Center of Zhejiang Province, Hangzhou, Zhejiang, 310006 PR China. zfm00@hotmail.com
Zhu
Fa-ming
FM
Xu
Xian-guo
XG
Hong
Xiao-zhen
XZ
D005700:Galactosyltransferases / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D008297:Male; D010641:Phenotype; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide
D005700:Galactosyltransferases