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Diversity in exon 5 of HLA-C*04:01:01G is significant in anthropological studies

from Human Immunology

Polymorphisms in Human Leukocyte Antigen (HLA) class I genes are generally considered to be relevant only if they reside in exons 2 and 3 or if they affect the expression of the allele. HLA-C∗04:82 differs from the common HLA-C∗04:01:01 by having a 9 nucleotide, or 3 amino acid duplication, in exon 5. Having observed HLA-C∗04:82 in a New Zealand Maori stem cell patient, we have attempted to examine the prevalence of this allele in different ethnicities. Although our studies are in a limited number of patients and donors, they have revealed that, in the Pacific region, HLA-C∗04:82 appears to be the most common allele of the HLA-C∗04:01:01G group of alleles, notably in Filippinos and in Maori/Polynesians. more

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