Pvu II polymorphism in the primate homologue of the mouse B144 (LST-1). A novel marker gene within the tumor necrosis factor region.
A Pvu II RFLP was mapped within the LST-1 gene, the human homologue of the mouse B144 sequence, establishing LST-1 as a new marker gene within the TNF region. We investigated the distribution of this Pvu II RFLP in 274 unrelated individuals, 132 additional HLA-DR7-positive individuals, 86 homozygous lymphoblastoid cell lines, and in four families. Seventeen of 274 individuals (6.2%) were heterozygous for the Pvu II restriction site (ADB1 = lack and ADB2 = presence of the Pvu II restriction site). In our study population the polymorphism has a much wider distribution than that previously reported in an analysis of selected haplotypes. Besides a strong association of ADB1 with HLA-B14, -DR7, we found a further association with HLA-B35. These results were also validated by family segregation studies and analyses of homozygous cell lines. In addition, five of 17 individuals carrying the ADB1 allele had HLA types other than B14 or B35, emphasizing that the presence of ADB1 is not limited to the HLA-B14, DR7 haplotype. LST-1 and its polymorphism may be used as an additional marker of the TNF region, where genes responsible for autoimmune diseases are suspected to be localized.
de Baey
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Department of Anthropology and Human Genetics, University of Munich, Germany.
Holzinger
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Scholz
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Keller
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Weiss
E H
EH
Albert
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E
D000483:Alleles; D000818:Animals; D001327:Autoimmune Diseases / Q000235:genetics; D001483:Base Sequence; D001798:Blood Proteins / Q000235:genetics*; D002460:Cell Line; D015252:Deoxyribonucleases, Type II Site-Specific; D005260:Female; D005787:Gene Frequency; D008040:Genetic Linkage; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006071:Gorilla gorilla / Q000235:genetics; D015234:HLA-A Antigens / Q000235:genetics; D015235:HLA-B Antigens / Q000235:genetics; D006684:HLA-DR Antigens / Q000235:genetics; D015809:HLA-DR7 Antigen / Q000235:genetics; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D006922:Hylobates / Q000235:genetics; D047908:Intracellular Signaling Peptides and Proteins; D008214:Lymphocytes; D008233:Lymphotoxin-alpha / Q000235:genetics; D008285:Major Histocompatibility Complex / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins; D051379:Mice / Q000235:genetics; D008969:Molecular Sequence Data; D002679:Pan troglodytes / Q000235:genetics; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D011148:Pongo pygmaeus / Q000235:genetics; D011323:Primates / Q000235:genetics*; D013045:Species Specificity
D001798:Blood Proteins; D005819:Genetic Markers; D015234:HLA-A Antigens; D015235:HLA-B Antigens; D006684:HLA-DR Antigens; D015809:HLA-DR7 Antigen; D047908:Intracellular Signaling Peptides and Proteins; C093604:LST1 protein, human; C490562:Lst1 protein, mouse; D008233:Lymphotoxin-alpha; D008565:Membrane Proteins; C025630:CAGCTG-specific type II deoxyribonucleases; D015252:Deoxyribonucleases, Type II Site-Specific