title: KIR haplotype content at the allele level in 77 Northern Irish families.
abstract: There has been an explosion in population studies determining the frequency of KIR genes. However, there is still limited knowledge of allele and haplotype frequencies in different populations. The present study aims to determine the haplotype frequencies using allele information on ten genes and presence/absence of the other seven genes in the parents of 77 families. There were 26 of 154 different genotypes without using allele information and 143 of 154 different genotypes using allele information. These genotypes came from 96 of 308 different haplotypes. Of these, 41 were A and 55 were B. Forty-nine haplotypes occurred only once. In total, 181 (58.8%) of haplotypes were A and 127 (41.2%) were B. Three different haplotypes carried two copies of KIR2DL4, two different haplotypes were truncated with both KIR2DL4 and KIR3DL1/S1 missing, and three different haplotypes were negative for both KIR2DL2 and KIR2DL3; two of these haplotypes carried KIR2DS2. A further haplotype, present in two individuals, appeared to have two alleles of KIR2DL5A present. The percentages of individuals who were homozygous for the A haplotype, heterozygous for the A and B haplotype and homozygous for the B haplotype were 35.1%, 47.4% and 17.5% respectively. The genes KIR3DL1, KIR2DS4 and KIR2DL3 were present on 31, 32 and 15 different B haplotypes, respectively, and 64, 65 and 40 of the total B haplotypes, respectively. Sixty B haplotypes had both KIR3DL1 and KIR2DS4, and four haplotypes had KIR2DS4 and KIR2DL3. However, in 40 of 41 different and 180 of 181 total A haplotypes, KIR3DL1, KIR2DS4 and KIR2DL3 were all present (we did not allele-type for KIR2DL1 and therefore could not determine presence/absence on those haplotypes). At the allele level, homozygosity was found in 22.1%, 9.7% and 12.6% for KIR2DL4, KIR3DL2 and KIR3DL1 genes, respectively, but 62.6% and 53% for KIR2DL3 and KIR2DS4 genes, respectively, despite the fact that no one allele dominated the frequency in any of these genes.
authors.affiliation: Northern Ireland Regional Histocompatibility and Immunogenetics Laboratory, Belfast City Hospital, Belfast, BT9 7TS, Northern Ireland, UK. derek.middleton@bll.n-i.nhs.uk
authors.forename: D
authors.initials: D
authors.lastname: Middleton
authors.forename: A
authors.initials: A
authors.lastname: Meenagh
authors.forename: P A
authors.initials: PA
authors.lastname: Gourraud
mesh_terms: D000483:Alleles; D005190:Family; D005260:Female; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D007494:Ireland; D015810:Linkage Disequilibrium; D008297:Male; D011971:Receptors, Immunologic / Q000235:genetics*; D054340:Receptors, KIR; D054342:Receptors, KIR2DL1; D054343:Receptors, KIR2DL2; D054344:Receptors, KIR2DL3; D054345:Receptors, KIR2DL4; D054346:Receptors, KIR2DL5; D054341:Receptors, KIR3DL1; D054347:Receptors, KIR3DL2
chemical_list: C515077:KIR2DL2 protein, human; C515078:KIR2DL3 protein, human; C515079:KIR2DL4 protein, human; C515080:KIR2DL5A protein, human; C515083:KIR3DL1 protein, human; C515084:KIR3DL2 protein, human; D011971:Receptors, Immunologic; D054340:Receptors, KIR; D054342:Receptors, KIR2DL1; D054343:Receptors, KIR2DL2; D054344:Receptors, KIR2DL3; D054345:Receptors, KIR2DL4; D054346:Receptors, KIR2DL5; D054341:Receptors, KIR3DL1; D054347:Receptors, KIR3DL2