Molecular genetic analysis of the ABO blood group system: 3. A(X) and B(A) alleles.

Abstract:

:We have employed a PCR approach to determine the nucleotide sequences of the coding region in the last two coding exons of the histo-blood group ABO genes from one A(X) and one B(A) individual. Compared with A1 alleles, the (A(X)) allele has a single nucleotide substitution (T-->A at nucleotide 646) resulting in an amino acid substitution (phenylalanine-->isoleucine at amino acid 216). Compared with B alleles, the B(A) allele has two nucleotide substitutions (T-->C at nt. 657 and A-->G at nt. 703) resulting in an amino acid substitution (serine-->glycine at aa. 235). The amino acid substitution resulting from this B(A) allele is located at the second of the four amino acid substitutions which discriminate human A and B transferases, and the amino acid residue (glycine) is identical to that of A transferase suggesting the involvement of this amino acid or its surrounding area for the recognition and/or binding of the donor nucleotide sugars.

journal_name

Vox Sang

journal_title

Vox sanguinis

authors

Yamamoto F,McNeill PD,Yamamoto M,Hakomori S,Harris T

doi

10.1111/j.1423-0410.1993.tb05157.x

subject

Has Abstract

pub_date

1993-01-01 00:00:00

pages

171-4

issue

3

eissn

0042-9007

issn

1423-0410

journal_volume

64

pub_type

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