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

作者：Dunn Paul P J^*; Lamb Gareth; Selwyn Caroline; Compton Jillian; Yang Edward; Maiers Martin; Fernandez Vina Marcelo

来源：Human Immunology, 2016, 77(5): 426-428.

DOI：10.1016/j.humimm.2016.03.007

• HLA polymorphism
• Diversity
• Haplotype
• Anthropology

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. In these populations this allele has characteristic HLA-ABCDRBI haplotypes. Thus, our studies have shown that polymorphisms outside of the clinically important exons can be considered to be relevant in anthropological studies.

• 出版日期2016-5