A genetic mutation of the
ABO blood group gene in the subtype underwent analysis using polymerase chain reaction (PCR) based techniques. The present study involved fifty-seven Japanese and six non-Japanese patients with the ABO blood subtype. Three mutations were detected in Japanese A-subtypes. The ratio of
A0202 (cytosine to thymine) and
A0203 (to guanine) alleles with a mutation at nucleotide position 1054 in Japanese A-subtype were 36% (
p<0.0001) and 11% (
p<0.001), respectively, with these alleles being undetectable in the A
1-type. In one case involving the A
el-subtype,
A0204 allele (with a nucleotide substitution at 703) was detected. Moreover, the ratio of
A0103 allele (with four nucleotide differences at 297, 526, 657 and 703) in the A-subtype was 11% and statistically higher (
p<0.05) than in the Japanese A
1-group (2%). By contrast, no polymorphism was found in either the B-subtype or the normal B-type in Japanese. Concerning non-Japanese individuals,
A0201 allele (with a single base deletion at nucleotides 1059 to 1061) in 5 cases of the A
2-subtype and a nucleotide substitution at 646 (thymine versus adenine) in one case of the A
x-subtype were detected in this investigation. These findings indicate the presence of characteristic mutations in Japanese A-subtypes and differences concerning mutation of the A-subtypes among races.
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