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Molecular Genetic Analysis of the ABO Blood Group System: 3. A x and B (A) Alleles
Author(s) -
Yamamoto Fumiichiro,
McNeill Patricia D.,
Yamamoto Miyako,
Hakomori Senitiroh,
Harris Teresa
Publication year - 1993
Publication title -
vox sanguinis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.68
H-Index - 83
eISSN - 1423-0410
pISSN - 0042-9007
DOI - 10.1111/j.1423-0410.1993.tb05157.x
Subject(s) - amino acid , nucleotide , allele , biology , genetics , abo blood group system , isoleucine , amino acid substitution , serine , glycine , microbiology and biotechnology , gene , biochemistry , mutation , leucine , phosphorylation
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 A 1 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.