title: HLA haplotypes in a genetic isolate in Newfoundland. A population showing 8% homozygosity and a familial aggregate of lymphoma and immunodeficiency cases.
abstract: HLA typing was performed on 384 individuals of an isolated population of 1,500 people with a familial aggregate of lymphoma and immunodeficiency cases. Eighty-five % of the total population were descendants of the founding couple. First cousin marriages were common. There was a three-fold or higher increase of the following haplotypes as compared to the frequencies in Sheffield: HLA-A28,Bw35, HLA-A28, B18, HLA-A10, B18, HLA-A2, B18,HLA-A11, Bw40 and HLA-A11, B7. The frequency of HLA-A1, B8 was low (5.4%). The most common genotype was HLA-A2, B12/A2, B12 followed by HLA-A2, B12/A28, Bw35. We found 20 HLA homozygous individuals, of these 15 were HLA-A2, b12/a2, b12. There were two possible HLA cross-overs which may be confirmed and three postulated cross-overs which can never be confirmed as one or both parents of the individuals in question are deceased. Some of the haplotypes could be traced back to the first, second and third generations, i.e. to the first half of the nineteenth century. No single haplotype or antigen was shared by the patients.
mesh_terms: D003241:Consanguinity; D005260:Female; D008040:Genetic Linkage; D005828:Genetics, Population; D005838:Genotype; D006680:HLA Antigens / Q000032:analysis; D006238:Haploidy; D006689:Hodgkin Disease / Q000235:genetics* / Q000276:immunology; D006720:Homozygote; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics* / Q000276:immunology; D007938:Leukemia / Q000235:genetics* / Q000276:immunology; D008223:Lymphoma / Q000235:genetics* / Q000276:immunology; D008297:Male; D009523:Newfoundland and Labrador
chemical_list: D006680:HLA Antigens