DQA 1*0302 splits by a nucleotide substitution in exon 1

Shin'lchiro Yasunaga, Takehiko Sasazuki, Akinori Kimura

Research output: Contribution to journalArticlepeer-review


We reported in the last JAHG meeting that DQA1*0301 was different from DQB1*0302 onlyatcodon 160 (GCT vsGAT). We also reported that DQA 1*0301 links to DRB1* 0403, *0406, *()407 and *0802-DQB 1*0302 haplotypes and DQA 1*0302 links to DRB1 *0405-DQB 1*0401, DR B 1*0410-DQB 1*0402 and DRB1*0901-DQB 1*0303 haplotypes in the Japanese population. This time we determined nucleotide sequences in exon 1 of DQA1 alleles and developed a typing system for DQA 1 exon 1 by PCR-SSOP method. It should be noted that DQA 1*0302 which links to DRB 1*0405 or *0410 and DQA 1*0301 have ATG at codon-6 (codon 18 in exon 1), on the other hand DQA 1 *0302 which links to DRB 1*0901 has ACG at codon -6. This observations correspond to the polymorphism of DQA1 promorter region (QAP) that we previously reported. That is DR4 links to QAP3.1 and DR9 links to QAP3.2. These facts suggest that QAP and DQA1 exon 1 may have passed a different evolutional pathway from DQA1 exon 2, 3 and 4 reflecting the about 3.5kb long intron 1.

Original languageEnglish
Pages (from-to)101
Number of pages1
JournalJapanese Journal of Human Genetics
Issue number1
Publication statusPublished - 1996
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)


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