Diversity in exon 5 of HLA-C(∗)04:01:01G is significant in anthropological studies.

ABSTRACT

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(∗)0482 differs from the common HLA-C(∗)040101 by having a 9 nucleotide, or 3 amino acid duplication, in exon 5. Having observed HLA-C(∗)0482 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(∗)0482 appears to be the most common allele of the HLA-C(∗)040101G group of alleles, notably in Filippinos and in Maori/Polynesians. In these populations this allele has characteristic HLA-ABCDRB1 haplotypes. Thus, our studies have shown that polymorphisms outside of the clinically important exons can be considered to be relevant in anthropological studies.