title: Frequency of carriers of 8.1 ancestral haplotype and its fragments in two Caucasian populations.
abstract: Within the human MHC region larger stretches of conserved DNA, called conserved ancestral haplotypes exist. However, many MHC haplotypes contain only fragments of an ancestral haplotype. Little is known, however, on relative distribution of the ancestral haplotypes to their fragments. Therefore we determined the frequency of carriers of the whole ancestral haplotype 8.1 (AH8.1) and its fragments in 127 healthy Hungarian people, 101 healthy Ohioian females, and in nine Hungarian families. The HLA-DQ2, HLA-DR3(17), RAGE -429C allele, the mono-S-C4B genotype, the HSP70-2 1267G allele and the TNF -308A (TNF2) allele were used as markers of the AH8.1. Frequency of carriers of the whole AH8.1 and its fragments was similar in the both populations. 18% of the subjects carried the whole AH8.1 in at least one chromosome, while 17-20%, 36-39%, and 24-29%, respectively carried two or three constituents of the haplotype, only one constituent or none of them. Similar results were obtained in the family study. In addition, marked differences were found in the relationship of the constituents' alleles to the whole AH8.1. In both populations, 29%, 50-59%, 52-56% and 76-96%, respectively of the carriers of HSP70-2 1267G, RAGE-429C, TNF2, and mono-S carriers carried the whole 8.1 haplotype. These findings may have important implications for studies of the disease associations with different MHC ancestral haplotypes.
authors.affiliation: Third Department of Internal Medicine, Semmelweis University, Budapest, Hungary.
authors.forename: Petra
authors.initials: P
authors.lastname: Kiszel
authors.forename: Margit
authors.initials: M
authors.lastname: Kovács
authors.forename: Csaba
authors.initials: C
authors.lastname: Szalai
authors.forename: Yan
authors.initials: Y
authors.lastname: Yang
authors.forename: Eva
authors.initials: E
authors.lastname: Pozsonyi
authors.forename: Bernadett
authors.initials: B
authors.lastname: Blaskó
authors.forename: Judit
authors.initials: J
authors.lastname: Laki
authors.forename: Zoltán
authors.initials: Z
authors.lastname: Prohászka
authors.forename: Adám
authors.initials: A
authors.lastname: Fazakas
authors.forename: Pál
authors.initials: P
authors.lastname: Pánczél
authors.forename: Nóra
authors.initials: N
authors.lastname: Hosszúfalusi
authors.forename: Katalin
authors.initials: K
authors.lastname: Rajczy
authors.forename: Yee-Ling
authors.initials: YL
authors.lastname: Wu
authors.forename: Erwin K
authors.initials: EK
authors.lastname: Chung
authors.forename: Bi
authors.initials: B
authors.lastname: Zhou
authors.forename: Carol A
authors.initials: CA
authors.lastname: Blanchong
authors.forename: Agnes
authors.initials: A
authors.lastname: Vatay
authors.forename: C Yung
authors.initials: CY
authors.lastname: Yu
authors.forename: G
authors.initials: G
authors.lastname: Füst
mesh_terms: D000483:Alleles; D002648:Child; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics* / Q000276:immunology; D005260:Female; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008285:Major Histocompatibility Complex / Q000235:genetics*; D008297:Male; D011110:Polymorphism, Genetic; D044465:White People / Q000235:genetics*