title: 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(∗)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-ABCDRB1 haplotypes. Thus, our studies have shown that polymorphisms outside of the clinically important exons can be considered to be relevant in anthropological studies.
authors.affiliation: Tissue Typing Laboratory, New Zealand Blood Service, 71 Great South Road, Epsom, Auckland, New Zealand. Electronic address: paul.dunn@uhl-tr.nhs.uk.
authors.forename: Paul P J
authors.initials: PP
authors.lastname: Dunn
authors.affiliation: Tissue Typing Laboratory, New Zealand Blood Service, 71 Great South Road, Epsom, Auckland, New Zealand.
authors.forename: Gareth
authors.initials: G
authors.lastname: Lamb
authors.affiliation: Tissue Typing Laboratory, New Zealand Blood Service, 71 Great South Road, Epsom, Auckland, New Zealand.
authors.forename: Caroline
authors.initials: C
authors.lastname: Selwyn
authors.affiliation: Tissue Typing Laboratory, New Zealand Blood Service, 71 Great South Road, Epsom, Auckland, New Zealand.
authors.forename: Jillian
authors.initials: J
authors.lastname: Compton
authors.affiliation: Tzu Chi Stem Cell Registry, Hualien, Taiwan.
authors.forename: Edward
authors.initials: E
authors.lastname: Yang
authors.affiliation: National Marrow Donor Program, Minneapolis, USA.
authors.forename: Martin
authors.initials: M
authors.lastname: Maiers
authors.affiliation: Department of Pathology, Stanford University Medical School, Stanford, CA, USA.
authors.forename: Marcelo
authors.initials: M
authors.lastname: Fernandez-Vina
mesh_terms: D000883:Anthropology; D005091:Exons / Q000235:genetics*; D005787:Gene Frequency; D014644:Genetic Variation; D006239:Haplotypes; D006648:Histocompatibility; D006650:Histocompatibility Testing; D006801:Humans; D009520:New Zealand; D011110:Polymorphism, Genetic; D033581:Stem Cell Transplantation; D014481:United States
keywords: Anthropology; Diversity; HLA polymorphism; Haplotype