HLA‐DPB1 DNA POLYMORPHISM IN THE SWISS POPULATION: LINKAGE DISEQUILIBRIUM WITH OTHER HLA LOCI AND POPULATION GENETIC AFFINITIES
Identifieur interne : 001B40 ( Istex/Corpus ); précédent : 001B39; suivant : 001B41HLA‐DPB1 DNA POLYMORPHISM IN THE SWISS POPULATION: LINKAGE DISEQUILIBRIUM WITH OTHER HLA LOCI AND POPULATION GENETIC AFFINITIES
Auteurs : C. Grundschober ; A. Sanchez-Mazas ; L. Excoffier ; A. Langaney ; M. Jeannet ; J. TiercySource :
- International Journal of Immunogenetics [ 1744-3121 ] ; 1994-06.
English descriptors
- Teeft :
- Acute disease, Adjacent loci, Allele, Allelic, Allelic frequencies, Ancestral haplotypes, Balanced selection, Blank alleles, Bone marrow transplantation, Caucasoid populations, Coancestry coefficients, Complement loci, Different continents, Disequilibrium, Dpbl, Dpbl alleles, Dpbl allelic frequencies, Drb1, Drb1 loci, Drbl, Drbl alleles, European journal, European populations, Genetic distances, Genetic diversity, Genetic homogeneity, Genetics, Geographic distances, Haplotype, Haplotype frequencies, Heterozygosity, Heterozygosity level, Heterozygous combinations, Human immunology, Imanishi, Immunology, Important implications, Kimura sasazuki, Limited number, Linkage, Linkage disequilibrium, Locus, Lower level, Main alleles, More polymorphic, Oligonucleotide, Oligonucleotide probes, Oligonucleotide typing, Oligotyping, Original method, Other continents, Other europeans, Other hand, Other loci, Other pairs, Other populations, Oxford university press, Physical distance, Polymerase chain reaction, Polymorphic, Polymorphic frequency, Polymorphic haplotypes, Polymorphism, Population genetics, Positive association, Rapid method, Routine practice, Same frequency, Sample frequency, Sasazuki, Selective neutrality, Significant associations, Significant correlation coefficient, Similar heterozygosity levels, Statistical package ntsys, Swiss individuals, Swiss population, Swiss sample, Tiercy, Tissue anrigens, Tissue antigens, Total disequilibrium, Transplantation, Transplantation proceedings, Tsuji, Unexpected phenotypes.
Abstract
Allelic diversity at the HLA‐DPB1 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 (DPB 1*0401, *0201, *0301, *0402) reached a cumulative frequency of 74.8%. HLA‐A and ‐B (by serology) and HLA‐DRB1 (by oligotyping) allelic polymorphisms were analysed also. HLA‐B and HLA‐DRB1 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 DPB1 (0.81) loci. This paper presents also a global comparison of DPB1 allelic frequencies among 15 populations from four continents. As opposed to the DRB1 locus, overall DPB1 is shown to have a lower level of polymorphism and may be considered as neutral in all tested populations. DPB 1 genetic diversity is correlated significantly with geography also, as found previously for DRB1. Two‐ and four‐locus haplotype frequencies were determined and the significance of their linkage disequilibrium tested by an original non‐parametric method. A significant positive linkage disequilibrium was found for 11 A‐B, 16 B‐DRB1, 7 DRB1‐DPB1 and 3 A‐B‐DRB1‐DPB1 haplotypes. The overall linkage disequilibrium between DRB1 and DPB1 was much lower than expected from the physical distance and lower than for A‐B and B‐DRB1 pairs. The implications of these results for bone marrow transplantation and for the evolution of HLA loci are discussed.
Url:
DOI: 10.1111/j.1744-313X.1994.tb00186.x
Links to Exploration step
ISTEX:32C6A1FA7D1F277BB0A6D9D38F919F16E707AB42Le document en format XML
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Grundschober</name><affiliation><mods:affiliation>Unité? Immunologie de Transplantation, Division ? Immunologie et ? Allergologie, Hôpital Cantonal Universitaire, Geneva, Switzerland</mods:affiliation></affiliation></author><author><name sortKey="Sanchez Azas, A" sort="Sanchez Azas, A" uniqKey="Sanchez Azas A" first="A." last="Sanchez-Mazas">A. Sanchez-Mazas</name><affiliation><mods:affiliation>Laboratoire de Génétique et Biométrie, Département ? Anthropologie et ? Ecologie, Université de Genève, Geneva, Switzerland, and URA49 CNRS Museum, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Excoffier, L" sort="Excoffier, L" uniqKey="Excoffier L" first="L." last="Excoffier">L. Excoffier</name><affiliation><mods:affiliation>Laboratoire de Génétique et Biométrie, Département ? Anthropologie et ? Ecologie, Université de Genève, Geneva, Switzerland, and URA49 CNRS Museum, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Langaney, A" sort="Langaney, A" uniqKey="Langaney A" first="A." last="Langaney">A. Langaney</name><affiliation><mods:affiliation>Laboratoire de Génétique et Biométrie, Département ? Anthropologie et ? Ecologie, Université de Genève, Geneva, Switzerland, and URA49 CNRS Museum, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Jeannet, M" sort="Jeannet, M" uniqKey="Jeannet M" first="M." last="Jeannet">M. Jeannet</name><affiliation><mods:affiliation>Unité? Immunologie de Transplantation, Division ? Immunologie et ? Allergologie, Hôpital Cantonal Universitaire, Geneva, Switzerland</mods:affiliation></affiliation></author><author><name sortKey="Tiercy, J" sort="Tiercy, J" uniqKey="Tiercy J" first="J." last="Tiercy">J. Tiercy</name><affiliation><mods:affiliation>Unité? Immunologie de Transplantation, Division ? Immunologie et ? Allergologie, Hôpital Cantonal Universitaire, Geneva, Switzerland</mods:affiliation></affiliation><affiliation><mods:affiliation>Correspondence address: Dr J.‐M. Tiercy, Unité?Immunologie de Transplantation, Laboratory 8252, Centre Médical Universitaire, 1 rue Michel Servet, 1211 Genève 4, Switzerland.</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">International Journal of Immunogenetics</title><title level="j" type="alt">INTERNATIONAL JOURNAL OF IMMUNOGENETICS</title><idno type="ISSN">1744-3121</idno><idno type="eISSN">1744-313X</idno><imprint><biblScope unit="vol">21</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="143">143</biblScope><biblScope unit="page" to="157">157</biblScope><biblScope unit="page-count">15</biblScope><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="1994-06">1994-06</date></imprint><idno type="ISSN">1744-3121</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1744-3121</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="Teeft" xml:lang="en"><term>Acute disease</term><term>Adjacent loci</term><term>Allele</term><term>Allelic</term><term>Allelic frequencies</term><term>Ancestral haplotypes</term><term>Balanced selection</term><term>Blank alleles</term><term>Bone marrow transplantation</term><term>Caucasoid populations</term><term>Coancestry coefficients</term><term>Complement loci</term><term>Different continents</term><term>Disequilibrium</term><term>Dpbl</term><term>Dpbl alleles</term><term>Dpbl allelic frequencies</term><term>Drb1</term><term>Drb1 loci</term><term>Drbl</term><term>Drbl alleles</term><term>European journal</term><term>European populations</term><term>Genetic distances</term><term>Genetic diversity</term><term>Genetic homogeneity</term><term>Genetics</term><term>Geographic distances</term><term>Haplotype</term><term>Haplotype frequencies</term><term>Heterozygosity</term><term>Heterozygosity level</term><term>Heterozygous combinations</term><term>Human immunology</term><term>Imanishi</term><term>Immunology</term><term>Important implications</term><term>Kimura sasazuki</term><term>Limited number</term><term>Linkage</term><term>Linkage disequilibrium</term><term>Locus</term><term>Lower level</term><term>Main alleles</term><term>More polymorphic</term><term>Oligonucleotide</term><term>Oligonucleotide probes</term><term>Oligonucleotide typing</term><term>Oligotyping</term><term>Original method</term><term>Other continents</term><term>Other europeans</term><term>Other hand</term><term>Other loci</term><term>Other pairs</term><term>Other populations</term><term>Oxford university press</term><term>Physical distance</term><term>Polymerase chain reaction</term><term>Polymorphic</term><term>Polymorphic frequency</term><term>Polymorphic haplotypes</term><term>Polymorphism</term><term>Population genetics</term><term>Positive association</term><term>Rapid method</term><term>Routine practice</term><term>Same frequency</term><term>Sample frequency</term><term>Sasazuki</term><term>Selective neutrality</term><term>Significant associations</term><term>Significant correlation coefficient</term><term>Similar heterozygosity levels</term><term>Statistical package ntsys</term><term>Swiss individuals</term><term>Swiss population</term><term>Swiss sample</term><term>Tiercy</term><term>Tissue anrigens</term><term>Tissue antigens</term><term>Total disequilibrium</term><term>Transplantation</term><term>Transplantation proceedings</term><term>Tsuji</term><term>Unexpected phenotypes</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Allelic diversity at the HLA‐DPB1 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 (DPB 1*0401, *0201, *0301, *0402) reached a cumulative frequency of 74.8%. HLA‐A and ‐B (by serology) and HLA‐DRB1 (by oligotyping) allelic polymorphisms were analysed also. HLA‐B and HLA‐DRB1 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 DPB1 (0.81) loci. This paper presents also a global comparison of DPB1 allelic frequencies among 15 populations from four continents. As opposed to the DRB1 locus, overall DPB1 is shown to have a lower level of polymorphism and may be considered as neutral in all tested populations. DPB 1 genetic diversity is correlated significantly with geography also, as found previously for DRB1. Two‐ and four‐locus haplotype frequencies were determined and the significance of their linkage disequilibrium tested by an original non‐parametric method. A significant positive linkage disequilibrium was found for 11 A‐B, 16 B‐DRB1, 7 DRB1‐DPB1 and 3 A‐B‐DRB1‐DPB1 haplotypes. The overall linkage disequilibrium between DRB1 and DPB1 was much lower than expected from the physical distance and lower than for A‐B and B‐DRB1 pairs. The implications of these results for bone marrow transplantation and for the evolution of HLA loci are discussed.</div></front></TEI><istex><corpusName>wiley</corpusName><keywords><teeft><json:string>haplotype</json:string><json:string>allele</json:string><json:string>polymorphism</json:string><json:string>dpbl</json:string><json:string>disequilibrium</json:string><json:string>linkage disequilibrium</json:string><json:string>allelic</json:string><json:string>drbl</json:string><json:string>oligotyping</json:string><json:string>tiercy</json:string><json:string>swiss population</json:string><json:string>transplantation</json:string><json:string>locus</json:string><json:string>imanishi</json:string><json:string>oligonucleotide</json:string><json:string>polymorphic</json:string><json:string>heterozygosity</json:string><json:string>immunology</json:string><json:string>dpbl alleles</json:string><json:string>tissue antigens</json:string><json:string>genetics</json:string><json:string>sasazuki</json:string><json:string>tsuji</json:string><json:string>drb1</json:string><json:string>swiss sample</json:string><json:string>haplotype frequencies</json:string><json:string>human immunology</json:string><json:string>european populations</json:string><json:string>oxford university press</json:string><json:string>linkage</json:string><json:string>other populations</json:string><json:string>selective neutrality</json:string><json:string>other europeans</json:string><json:string>sample frequency</json:string><json:string>oligonucleotide probes</json:string><json:string>oligonucleotide typing</json:string><json:string>bone marrow transplantation</json:string><json:string>genetic distances</json:string><json:string>allelic frequencies</json:string><json:string>positive association</json:string><json:string>ancestral haplotypes</json:string><json:string>different continents</json:string><json:string>polymerase chain reaction</json:string><json:string>tissue anrigens</json:string><json:string>swiss individuals</json:string><json:string>polymorphic haplotypes</json:string><json:string>physical distance</json:string><json:string>total disequilibrium</json:string><json:string>adjacent loci</json:string><json:string>geographic distances</json:string><json:string>kimura sasazuki</json:string><json:string>drb1 loci</json:string><json:string>similar heterozygosity levels</json:string><json:string>same frequency</json:string><json:string>heterozygosity level</json:string><json:string>other loci</json:string><json:string>significant correlation coefficient</json:string><json:string>heterozygous combinations</json:string><json:string>caucasoid populations</json:string><json:string>polymorphic frequency</json:string><json:string>significant associations</json:string><json:string>more polymorphic</json:string><json:string>limited number</json:string><json:string>other hand</json:string><json:string>unexpected phenotypes</json:string><json:string>blank alleles</json:string><json:string>other pairs</json:string><json:string>important implications</json:string><json:string>routine practice</json:string><json:string>acute disease</json:string><json:string>balanced selection</json:string><json:string>genetic homogeneity</json:string><json:string>other continents</json:string><json:string>drbl alleles</json:string><json:string>genetic diversity</json:string><json:string>european journal</json:string><json:string>original method</json:string><json:string>dpbl allelic frequencies</json:string><json:string>main alleles</json:string><json:string>lower level</json:string><json:string>coancestry coefficients</json:string><json:string>statistical package ntsys</json:string><json:string>rapid method</json:string><json:string>complement loci</json:string><json:string>population genetics</json:string><json:string>transplantation proceedings</json:string></teeft></keywords><author><json:item><name>C. Grundschober</name><affiliations><json:string>Unité? Immunologie de Transplantation, Division ? Immunologie et ? Allergologie, Hôpital Cantonal Universitaire, Geneva, Switzerland</json:string></affiliations></json:item><json:item><name>A. Sanchez‐Mazas</name><affiliations><json:string>Laboratoire de Génétique et Biométrie, Département ? Anthropologie et ? Ecologie, Université de Genève, Geneva, Switzerland, and URA49 CNRS Museum, Paris, France</json:string></affiliations></json:item><json:item><name>L. Excoffier</name><affiliations><json:string>Laboratoire de Génétique et Biométrie, Département ? Anthropologie et ? Ecologie, Université de Genève, Geneva, Switzerland, and URA49 CNRS Museum, Paris, France</json:string></affiliations></json:item><json:item><name>A. Langaney</name><affiliations><json:string>Laboratoire de Génétique et Biométrie, Département ? Anthropologie et ? Ecologie, Université de Genève, Geneva, Switzerland, and URA49 CNRS Museum, Paris, France</json:string></affiliations></json:item><json:item><name>M. Jeannet</name><affiliations><json:string>Unité? Immunologie de Transplantation, Division ? Immunologie et ? Allergologie, Hôpital Cantonal Universitaire, Geneva, Switzerland</json:string></affiliations></json:item><json:item><name>J.‐M. Tiercy</name><affiliations><json:string>Unité? Immunologie de Transplantation, Division ? Immunologie et ? Allergologie, Hôpital Cantonal Universitaire, Geneva, Switzerland</json:string><json:string>Correspondence address: Dr J.‐M. Tiercy, Unité?Immunologie de Transplantation, Laboratory 8252, Centre Médical Universitaire, 1 rue Michel Servet, 1211 Genève 4, Switzerland.</json:string></affiliations></json:item></author><articleId><json:string>IJI143</json:string></articleId><arkIstex>ark:/67375/WNG-SHLFD9DQ-N</arkIstex><language><json:string>eng</json:string></language><originalGenre><json:string>article</json:string></originalGenre><abstract>Allelic diversity at the HLA‐DPB1 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 (DPB 1*0401, *0201, *0301, *0402) reached a cumulative frequency of 74.8%. HLA‐A and ‐B (by serology) and HLA‐DRB1 (by oligotyping) allelic polymorphisms were analysed also. HLA‐B and HLA‐DRB1 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 DPB1 (0.81) loci. This paper presents also a global comparison of DPB1 allelic frequencies among 15 populations from four continents. As opposed to the DRB1 locus, overall DPB1 is shown to have a lower level of polymorphism and may be considered as neutral in all tested populations. DPB 1 genetic diversity is correlated significantly with geography also, as found previously for DRB1. Two‐ and four‐locus haplotype frequencies were determined and the significance of their linkage disequilibrium tested by an original non‐parametric method. A significant positive linkage disequilibrium was found for 11 A‐B, 16 B‐DRB1, 7 DRB1‐DPB1 and 3 A‐B‐DRB1‐DPB1 haplotypes. The overall linkage disequilibrium between DRB1 and DPB1 was much lower than expected from the physical distance and lower than for A‐B and B‐DRB1 pairs. The implications of these results for bone marrow transplantation and for the evolution of HLA loci are discussed.</abstract><qualityIndicators><refBibsNative>true</refBibsNative><abstractWordCount>242</abstractWordCount><abstractCharCount>1577</abstractCharCount><keywordCount>0</keywordCount><score>9.904</score><pdfWordCount>6031</pdfWordCount><pdfCharCount>41025</pdfCharCount><pdfVersion>1.4</pdfVersion><pdfPageCount>15</pdfPageCount><pdfPageSize>486 x 702 pts</pdfPageSize><pdfWordsPerPage>402</pdfWordsPerPage><pdfText>true</pdfText></qualityIndicators><title>HLA‐DPB1 DNA POLYMORPHISM IN THE SWISS POPULATION: LINKAGE DISEQUILIBRIUM WITH OTHER HLA LOCI AND POPULATION GENETIC AFFINITIES</title><pmid><json:string>9098428</json:string></pmid><genre><json:string>article</json:string></genre><host><title>International Journal of Immunogenetics</title><language><json:string>unknown</json:string></language><doi><json:string>10.1111/(ISSN)1744-313X</json:string></doi><issn><json:string>1744-3121</json:string></issn><eissn><json:string>1744-313X</json:string></eissn><publisherId><json:string>IJI</json:string></publisherId><volume>21</volume><issue>3</issue><pages><first>143</first><last>157</last><total>15</total></pages><genre><json:string>journal</json:string></genre></host><namedEntities><unitex><date><json:string>1994</json:string></date><geogName><json:string>San</json:string></geogName><orgName><json:string>Biotech</json:string><json:string>Blood Transfusion Center</json:string><json:string>United States and Canadian Caucasoids</json:string><json:string>Geneva Blood Transfusion Center</json:string></orgName><orgName_funder></orgName_funder><orgName_provider></orgName_provider><persName><json:string>Gilles Pongratz</json:string><json:string>Sylvia Andersen</json:string><json:string>Barbara Battistolo</json:string><json:string>Caucasoids</json:string><json:string>Patricia Roux-Chabbey</json:string><json:string>Michel Servet</json:string><json:string>O.Ol</json:string><json:string>Geneva Hospital</json:string><json:string>Christine Gonet</json:string><json:string>C. Grundschober</json:string></persName><placeName><json:string>Paris</json:string><json:string>Switzerland</json:string><json:string>Germany</json:string><json:string>Diibendorf</json:string><json:string>Mannheim</json:string><json:string>Europe</json:string><json:string>South Africa</json:string><json:string>France</json:string><json:string>Guinea</json:string></placeName><ref_url></ref_url><ref_bibl><json:string>Bodmer et al., 1952</json:string><json:string>Sanchez-Perez & Shaw, 1986</json:string><json:string>Begovich et al., 1992</json:string><json:string>C.Grundschober et al.</json:string><json:string>Imanishi et al., 1992a</json:string><json:string>Tait et al., 1992</json:string><json:string>Ronningen et al., 1990</json:string><json:string>Petersdorf et al., 1993</json:string><json:string>Rohlf, 1993</json:string><json:string>Eiermann et al., 1991</json:string><json:string>Awdeh et al.. 1992</json:string><json:string>Degli-Eposti et al.. 1992</json:string><json:string>Shaw et al., 1980</json:string><json:string>Excoffier et al. 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Immunologie de Transplantation</orgName><orgName type="division">Division ? Immunologie et ? Allergologie</orgName><orgName type="institution">Hôpital Cantonal Universitaire</orgName><address><addrLine>Geneva</addrLine><addrLine>Switzerland</addrLine><country key="CH" xml:lang="en">SWITZERLAND</country></address></affiliation></author><author xml:id="author-0001"><persName><forename type="first">A.</forename><surname>Sanchez‐Mazas</surname></persName><affiliation><orgName type="laboratory">Laboratoire de Génétique et Biométrie</orgName><orgName type="division">Département ? Anthropologie et ? Ecologie</orgName><orgName type="institution">Université de Genève</orgName><address><addrLine>Geneva</addrLine><addrLine>Switzerland, and URA49 CNRS Museum, Paris, France</addrLine></address></affiliation></author><author xml:id="author-0002"><persName><forename type="first">L.</forename><surname>Excoffier</surname></persName><affiliation><orgName type="laboratory">Laboratoire de Génétique et Biométrie</orgName><orgName type="division">Département ? Anthropologie et ? Ecologie</orgName><orgName type="institution">Université de Genève</orgName><address><addrLine>Geneva</addrLine><addrLine>Switzerland, and URA49 CNRS Museum, Paris, France</addrLine></address></affiliation></author><author xml:id="author-0003"><persName><forename type="first">A.</forename><surname>Langaney</surname></persName><affiliation><orgName type="laboratory">Laboratoire de Génétique et Biométrie</orgName><orgName type="division">Département ? Anthropologie et ? Ecologie</orgName><orgName type="institution">Université de Genève</orgName><address><addrLine>Geneva</addrLine><addrLine>Switzerland, and URA49 CNRS Museum, Paris, France</addrLine></address></affiliation></author><author xml:id="author-0004"><persName><forename type="first">M.</forename><surname>Jeannet</surname></persName><affiliation><orgName type="laboratory">Unité? Immunologie de Transplantation</orgName><orgName type="division">Division ? Immunologie et ? Allergologie</orgName><orgName type="institution">Hôpital Cantonal Universitaire</orgName><address><addrLine>Geneva</addrLine><addrLine>Switzerland</addrLine><country key="CH" xml:lang="en">SWITZERLAND</country></address></affiliation></author><author xml:id="author-0005" role="corresp"><persName><forename type="first">J.‐M.</forename><surname>Tiercy</surname></persName><affiliation><orgName type="laboratory">Unité? Immunologie de Transplantation</orgName><orgName type="division">Division ? Immunologie et ? 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<ref target="http://www.tei-c.org/">We use TEI</ref></desc></application></appInfo></encodingDesc><profileDesc><abstract xml:lang="en" style="main"><head>SUMMARY</head><p>Allelic diversity at the HLA‐DPB1 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 (DPB 1*0401, *0201, *0301, *0402) reached a cumulative frequency of 74.8%. HLA‐A and ‐B (by serology) and HLA‐DRB1 (by oligotyping) allelic polymorphisms were analysed also. HLA‐B and HLA‐DRB1 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 DPB1 (0.81) loci. This paper presents also a global comparison of DPB1 allelic frequencies among 15 populations from four continents. As opposed to the DRB1 locus, overall DPB1 is shown to have a lower level of polymorphism and may be considered as neutral in all tested populations. DPB 1 genetic diversity is correlated significantly with geography also, as found previously for DRB1. Two‐ and four‐locus haplotype frequencies were determined and the significance of their linkage disequilibrium tested by an original non‐parametric method. A significant positive linkage disequilibrium was found for 11 A‐B, 16 B‐DRB1, 7 DRB1‐DPB1 and 3 A‐B‐DRB1‐DPB1 haplotypes. The overall linkage disequilibrium between DRB1 and DPB1 was much lower than expected from the physical distance and lower than for A‐B and B‐DRB1 pairs. The implications of these results for bone marrow transplantation and for the evolution of HLA loci are discussed.</p></abstract><textClass><keywords rend="tocHeading1"><term>Orignal Articles</term></keywords></textClass><langUsage><language ident="en"></language></langUsage></profileDesc><revisionDesc><change when="2019-12-20" who="#istex" xml:id="pub2tei">formatting</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/ark:/67375/WNG-SHLFD9DQ-N/fulltext.txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Blackwell Publishing Ltd</publisherName><publisherLoc>Oxford, UK</publisherLoc></publisherInfo><doi origin="wiley" registered="yes">10.1111/(ISSN)1744-313X</doi><issn type="print">1744-3121</issn><issn type="electronic">1744-313X</issn><idGroup><id type="product" value="IJI"></id><id type="publisherDivision" value="ST"></id></idGroup><titleGroup><title type="main" sort="INTERNATIONAL JOURNAL OF IMMUNOGENETICS">International Journal of Immunogenetics</title></titleGroup></publicationMeta><publicationMeta level="part" position="06003"><doi origin="wiley">10.1111/eji.1994.21.issue-3</doi><numberingGroup><numbering type="journalVolume" number="21">21</numbering><numbering type="journalIssue" number="3">3</numbering></numberingGroup><coverDate startDate="1994-06">June 1994</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="0014300" status="forIssue"><doi origin="wiley">10.1111/j.1744-313X.1994.tb00186.x</doi><idGroup><id type="unit" value="IJI143"></id></idGroup><countGroup><count type="pageTotal" number="15"></count></countGroup><titleGroup><title type="tocHeading1">Orignal Articles</title></titleGroup><eventGroup><event type="firstOnline" date="2007-04-02"></event><event type="publishedOnlineFinalForm" date="2007-04-02"></event><event type="xmlConverted" agent="Converter:BPG_TO_WML3G version:2.3.2 mode:FullText source:HeaderRef result:HeaderRef" date="2010-03-07"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-01-28"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-23"></event></eventGroup><numberingGroup><numbering type="pageFirst" number="143">143</numbering><numbering type="pageLast" number="157">157</numbering></numberingGroup><correspondenceTo>Dr J.‐M. Tiercy, Unité?Immunologie de Transplantation, Laboratory 8252, Centre Médical Universitaire, 1 rue Michel Servet, 1211 Genève 4, Switzerland.</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:IJI.IJI143.pdf"></link></linkGroup></publicationMeta><contentMeta><unparsedEditorialHistory>(Received 28 September 1993; accepted 30 November 1993)</unparsedEditorialHistory><countGroup><count type="referenceTotal" number="56"></count><count type="linksCrossRef" number="9"></count></countGroup><titleGroup><title type="main">HLA‐DPB1 DNA POLYMORPHISM IN THE SWISS POPULATION: LINKAGE DISEQUILIBRIUM WITH OTHER HLA LOCI AND POPULATION GENETIC AFFINITIES</title></titleGroup><creators><creator creatorRole="author" xml:id="cr1" affiliationRef="#a1" noteRef="#fn1"><personName><givenNames>C.</givenNames><familyName>Grundschober</familyName></personName></creator><creator creatorRole="author" xml:id="cr2" affiliationRef="#a2" noteRef="#fn1"><personName><givenNames>A.</givenNames><familyName>Sanchez‐Mazas</familyName></personName></creator><creator creatorRole="author" xml:id="cr3" affiliationRef="#a2"><personName><givenNames>L.</givenNames><familyName>Excoffier</familyName></personName></creator><creator creatorRole="author" xml:id="cr4" affiliationRef="#a2"><personName><givenNames>A.</givenNames><familyName>Langaney</familyName></personName></creator><creator creatorRole="author" xml:id="cr5" affiliationRef="#a1"><personName><givenNames>M.</givenNames><familyName>Jeannet</familyName></personName></creator><creator creatorRole="author" xml:id="cr6" affiliationRef="#a1" corresponding="yes"><personName><givenNames>J.‐M.</givenNames><familyName>Tiercy</familyName></personName></creator></creators><affiliationGroup><affiliation xml:id="a1" countryCode="CH"><unparsedAffiliation>Unité? Immunologie de Transplantation, Division ? Immunologie et ? Allergologie, Hôpital Cantonal Universitaire, Geneva, Switzerland</unparsedAffiliation></affiliation><affiliation xml:id="a2"><unparsedAffiliation>Laboratoire de Génétique et Biométrie, Département ? Anthropologie et ? Ecologie, Université de Genève, Geneva, Switzerland, and URA49 CNRS Museum, Paris, France</unparsedAffiliation></affiliation></affiliationGroup><abstractGroup><abstract type="main" xml:lang="en"><title type="main">SUMMARY</title><p>Allelic diversity at the HLA‐DPB1 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 (DPB 1*0401, *0201, *0301, *0402) reached a cumulative frequency of 74.8%. HLA‐A and ‐B (by serology) and HLA‐DRB1 (by oligotyping) allelic polymorphisms were analysed also. HLA‐B and HLA‐DRB1 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 DPB1 (0.81) loci. This paper presents also a global comparison of DPB1 allelic frequencies among 15 populations from four continents. As opposed to the DRB1 locus, overall DPB1 is shown to have a lower level of polymorphism and may be considered as neutral in all tested populations. DPB 1 genetic diversity is correlated significantly with geography also, as found previously for DRB1. Two‐ and four‐locus haplotype frequencies were determined and the significance of their linkage disequilibrium tested by an original non‐parametric method. A significant positive linkage disequilibrium was found for 11 A‐B, 16 B‐DRB1, 7 DRB1‐DPB1 and 3 A‐B‐DRB1‐DPB1 haplotypes. The overall linkage disequilibrium between DRB1 and DPB1 was much lower than expected from the physical distance and lower than for A‐B and B‐DRB1 pairs. The implications of these results for bone marrow transplantation and for the evolution of HLA loci are discussed.</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><label>*</label><p>Both authors contributed equally to this work.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>HLA‐DPB1 DNA POLYMORPHISM IN THE SWISS POPULATION: LINKAGE DISEQUILIBRIUM WITH OTHER HLA LOCI AND POPULATION GENETIC AFFINITIES</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>HLA‐DPB1 DNA POLYMORPHISM IN THE SWISS POPULATION: LINKAGE DISEQUILIBRIUM WITH OTHER HLA LOCI AND POPULATION GENETIC AFFINITIES</title></titleInfo><name type="personal"><namePart type="given">C.</namePart><namePart type="family">Grundschober</namePart><affiliation>Unité? Immunologie de Transplantation, Division ? Immunologie et ? Allergologie, Hôpital Cantonal Universitaire, Geneva, Switzerland</affiliation><description>Both authors contributed equally to this work.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">A.</namePart><namePart type="family">Sanchez‐Mazas</namePart><affiliation>Laboratoire de Génétique et Biométrie, Département ? Anthropologie et ? Ecologie, Université de Genève, Geneva, Switzerland, and URA49 CNRS Museum, Paris, France</affiliation><description>Both authors contributed equally to this work.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">L.</namePart><namePart type="family">Excoffier</namePart><affiliation>Laboratoire de Génétique et Biométrie, Département ? Anthropologie et ? Ecologie, Université de Genève, Geneva, Switzerland, and URA49 CNRS Museum, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">A.</namePart><namePart type="family">Langaney</namePart><affiliation>Laboratoire de Génétique et Biométrie, Département ? Anthropologie et ? Ecologie, Université de Genève, Geneva, Switzerland, and URA49 CNRS Museum, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">M.</namePart><namePart type="family">Jeannet</namePart><affiliation>Unité? Immunologie de Transplantation, Division ? Immunologie et ? Allergologie, Hôpital Cantonal Universitaire, Geneva, Switzerland</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">J.‐M.</namePart><namePart type="family">Tiercy</namePart><affiliation>Unité? Immunologie de Transplantation, Division ? Immunologie et ? Allergologie, Hôpital Cantonal Universitaire, Geneva, Switzerland</affiliation><affiliation>Correspondence address: Dr J.‐M. Tiercy, Unité?Immunologie de Transplantation, Laboratory 8252, Centre Médical Universitaire, 1 rue Michel Servet, 1211 Genève 4, Switzerland.</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article" authority="ISTEX" authorityURI="https://content-type.data.istex.fr" valueURI="https://content-type.data.istex.fr/ark:/67375/XTP-6N5SZHKN-D">article</genre><originInfo><publisher>Blackwell Publishing Ltd</publisher><place><placeTerm type="text">Oxford, UK</placeTerm></place><dateIssued encoding="w3cdtf">1994-06</dateIssued><edition>(Received 28 September 1993; accepted 30 November 1993)</edition><copyrightDate encoding="w3cdtf">1994</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><extent unit="references">56</extent><extent unit="linksCrossRef">9</extent></physicalDescription><abstract lang="en">Allelic diversity at the HLA‐DPB1 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 (DPB 1*0401, *0201, *0301, *0402) reached a cumulative frequency of 74.8%. HLA‐A and ‐B (by serology) and HLA‐DRB1 (by oligotyping) allelic polymorphisms were analysed also. HLA‐B and HLA‐DRB1 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 DPB1 (0.81) loci. This paper presents also a global comparison of DPB1 allelic frequencies among 15 populations from four continents. As opposed to the DRB1 locus, overall DPB1 is shown to have a lower level of polymorphism and may be considered as neutral in all tested populations. DPB 1 genetic diversity is correlated significantly with geography also, as found previously for DRB1. Two‐ and four‐locus haplotype frequencies were determined and the significance of their linkage disequilibrium tested by an original non‐parametric method. A significant positive linkage disequilibrium was found for 11 A‐B, 16 B‐DRB1, 7 DRB1‐DPB1 and 3 A‐B‐DRB1‐DPB1 haplotypes. The overall linkage disequilibrium between DRB1 and DPB1 was much lower than expected from the physical distance and lower than for A‐B and B‐DRB1 pairs. The implications of these results for bone marrow transplantation and for the evolution of HLA loci are discussed.</abstract><relatedItem type="host"><titleInfo><title>International Journal of Immunogenetics</title></titleInfo><genre type="journal" authority="ISTEX" authorityURI="https://publication-type.data.istex.fr" valueURI="https://publication-type.data.istex.fr/ark:/67375/JMC-0GLKJH51-B">journal</genre><identifier type="ISSN">1744-3121</identifier><identifier type="eISSN">1744-313X</identifier><identifier type="DOI">10.1111/(ISSN)1744-313X</identifier><identifier type="PublisherID">IJI</identifier><part><date>1994</date><detail type="volume"><caption>vol.</caption><number>21</number></detail><detail type="issue"><caption>no.</caption><number>3</number></detail><extent unit="pages"><start>143</start><end>157</end><total>15</total></extent></part></relatedItem><relatedItem type="references" displayLabel="cit1"><titleInfo><title>HLA‐DP polymorphism in the present‐day San (Bushmen) and Khoi (Hottentots) using polymerase chain reaction and sequence specific oligonucleotide typing</title></titleInfo><name type="personal"><namePart type="given">B.</namePart><namePart type="family">Arendse</namePart><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">R.W.</namePart><namePart type="family">Martell</namePart><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">M.</namePart><namePart type="family">Jacobs</namePart><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">O.</namePart><namePart type="family">Oosthuizen</namePart><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">E.D.</namePart><namePart type="family">Du Toit</namePart><role><roleTerm type="text">author</roleTerm></role></name><genre>journal-article</genre><note type="citation/reference">Arendse, B., Martell, R.W., Jacobs, M., Oosthuizen, O. & Du Toit, E.D. (1992) HLA‐DP polymorphism in the present‐day San (Bushmen) and Khoi (Hottentots) using polymerase chain reaction and sequence specific oligonucleotide typing. 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