Four novel human leukocyte antigen-DQA1 alleles identified in the Korean population

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Abstract

Four novel human leukocyte antigen (HLA)-DQA1 alleles have been characterized by direct DNA sequencing of coding exons 1–4. All the novel alleles exhibited a single nucleotide substitution either in exon 3 or in exon 4 when compared with previously defined alleles. Thus, it is likely that alleles were generated by point mutation from pre-existing alleles in the population. Substitutions resulted in either a silent (DQA1*010203) or an amino acid change (DQA1*0506, DQA1*0507, and DQA1*0508). The substituted sites were both previously known polymorphic and conserved positions. Putative haplotypes associated with the novel alleles were deduced based on the HLA types shared by the individuals carrying a novel allele or from previously reported population data.

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