Article
Reference
HLA-DPB1 DNA polymorphism in the Swiss population : linkage disequilibrium with other HLA loci and population genetics affinities
GRUNDSCHOBER, Christophe, et al.
Abstract
Allelic diversity at the HLA-OPBl locus was determined by PCR-oligotyping in a sample of 125 healthy Swiss individuals. A total of 17 alleles were detected among which four main alleles (DPBP1*0401, *0201, *0301, *0402) reached a cumulative frequency 0f 74.8%. HLA-A and -B (by serology) and HLA-DRBl (by oligotyping) allelic pOlymorphisms were analysed also.
HLA-B and HLA-DRBl loci were highly polymorphic with 25 and 28 alleles respectively and similar heterozygosity levels of 0.93 and 0.92. These two loci were found to be more polymorphic than expected under neutrality, while lower heterozygosity levels were found for HLA-A (0.87) and DPB 1 (0.81) loci. This paper presents also a global comparison of DPBl allelic frequencies among 15 populations from four continents. As opposed to the DRBl locus, overall DPB1 is shown to have a lower level of polymorphism and may be considered as neutral in all tested populations. DPB1 genetic diversity is correlated significantly with geography also, as found previously for DRBl. Two- and four-locus haplotype frequencies were determined and the significance of their linkage [...]
GRUNDSCHOBER, Christophe, et al . HLA-DPB1 DNA polymorphism in the Swiss population : linkage disequilibrium with other HLA loci and population genetics affinities. European Journal of Immunogenetics , 1994, vol. 21, p. 143-157
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European Journal of Immunogenetics (1994), 21, 143-157
HLA-DPBl DNA POLYMORPHISM IN THE SWISS POPULA TION: LINKAGE DISEQUILIBRIUM WITH
OTHER HLA LOCI AND POPULATION GENETIC AFFINITIES
C. GRUNDSCHOBER,*t A. SANCIIEZ~MAZAS,*:1- L. EXCOFFIER,4:
A. LANGANEY,:I: M. JEANNI'T'i' & J.-M. TIERCY'i'
'j' Unite d'Inunul1ologie de Transplantation, Division d'lmmunologie et d'AlIerg%gie, H6pital Cantonal Universitaire, Geneva, Switzerland, and :1:Laboratoire de Genetique et Biornerrie, Departement d'Anthrop%gie et d'Ec%gie, Universite de Geneve, Geneva, Switzerland, and
URA49 eNRS Museum, Paris, France (ReceiVl.'d 28 September /993; accepted 30 November 1993)
SUMMARY
Allelic diversity at the HLA-OPBl locus was determined by PCR~()ligotyping in a sample of 125 healthy Swiss individuals. A total of 17 a!!eles were detected among which four main alleles (DPBP0401, ';'0201, "0301, "(402) rcached a cumulative frequency 0174.8%. HLA-A and -B (by serology) and HLA-DRBl (by oJigotyping) allelic pOlymorphisms were analysed also. HLA~B and HLA~DRBl loci were highly polymorphic with 25 and 28 aneles respectively and similar heterozygosity levels of 0.93 and 0.92. These two loci were found to be morc polymorphic than expected under neutrality, while lower heterozygosity levels were found for HLA-A (0.87) and OPB 1 (0.81) loci. This paper presents also a global comparison of OPBl allelic frequencies among 15 populations from four continents. As opposed to the ORBl loclls, overall OPB] is shown to have a lower level of polymorphism and may be considered as neutral in all tested populations. OPB 1 genetic diversity is correlated significantly with geography also, as found previously for ORBl. Two~ and four-locus haplotype frequencies were determined and the signifkance of their linkage disequilibrium tested by an original non~parametric method. A significant positive linkage disequili- brium was found for 11 A-B, 16 B-DRB1, 7 DRBI-DPBl and 3 A-B-DRBI-DPBl haplotypes. The overall linkage disequilibrium between ORB1 and OPB] was much lower than expected from the physical distance and lower than for A-B and B~ORB 1 pairs. The implications of these results for bone marrow transplantation and for the evolution of HLA loci arc discussed.
*Both authors contributed equally to this work.
Correspondence: Dr J.~M. Tiercy, Unite d'Immunologie de Transplantation, Laboratory 8252, Centre Medical Universitaire, I rue Michel Servet, 1211 Gellcve 4, Switzerland.
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