Extended HLA/complement allele haplotypes: evidence for T/t-like complex in man.
TLDR
In this paper, the distribution of alleles for HLA-A, B, C, D, BF, C2, C4A, and C4B markers were found to occur in haplotypes at frequencies significantly higher than expected.Abstract:
The chromosomal distribution of alleles for HLA-A,-B,-C, and -DR and the serum complement protein alleles of factor B and C2 and C4 was studied in normal Caucasian families. Eight combinations of HLA-B, DR, BF, C2, C4A, and C4B markers were found to occur in haplotypes at frequencies significantly higher than expected. In these combinations, which were defined as extended major histocompatibility complex haplotypes, HLA-A showed limited variation. A possible mechanism for the maintenance of extended haplotypes are human analogs of murine t mutants which are characterized by crossover suppression and male transmission bias. One human 6p haplotype, HLA-B8, DR3, SCO1, GLO 2, was found to be transmitted from males to 83% of their offspring. The same haplotype with GLO 1 had no transmission bias. It is suggested that this GLO 2-marked chromosome is a human analog of a murine t mutant.read more
Citations
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Journal ArticleDOI
HLA and altered sex ratios in juvenile rheumatoid arthritis sibships.
Catherine Van Kerckhove,Catherine Van Kerckhove,Catherine Van Kerckhove,Kamala Balakrishnan,Kamala Balakrishnan,Kamala Balakrishnan,Joseph E. Levinson,Joseph E. Levinson,Joseph E. Levinson,Martin G. Larson,Martin G. Larson,Martin G. Larson,David N. Glass,David N. Glass,David N. Glass +14 more
TL;DR: Analysis of sex ratio in 301 siblings of 150 patients with early-onset pauciarticular juvenile rheumatoid arthritis revealed a male-to-female ratio of 1:2.00 in sibships with an HLA-B44+ proband, and the capacity to distort the sex ratio was limited therefore to disease-associated HLA -B44 haplotypes.
Journal ArticleDOI
Coeliac disease and C4A*QO: an association secondary to HLA-DR3.
Book ChapterDOI
Molecular Genetics of the Class III Region of the HLA Complex
TL;DR: The class III region of the HLA complex is located between the class I and class II regions and consists of at least four types of genes, only two of which have obvious functions in the immune system.
Journal ArticleDOI
Molecular biology of the human and mouse MHC class III genes: phylogenetic conservation, genetics and regulation of expression.
TL;DR: The considerable progress which has been made in the molecular analysis of C2, factor B and C4 using DNA clones forms the basis for the future study of the biology of the class III genes and the role of complement in inflammatory processes and in the immune system.
Journal ArticleDOI
The -1030/-862-linked TNF promoter single-nucleotide polymorphisms are associated with the inability to control HIV-1 viremia.
Julio C. Delgado,Julio C. Delgado,Jessica Y. Leung,Andres Baena,Olga P. Clavijo,Eric Vittinghoff,Susan Buchbinder,Steven M. Wolinsky,Marilynn Addo,Bruce D. Walker,Edmond J. Yunis,Anne E. Goldfeld,Anne E. Goldfeld +12 more
TL;DR: In this cohort, the −1030/−862-linked TNF promoter single-nucleotide polymorphisms (SNPs), but not MICA variants, are significantly associated with lack of control of HIV-1 viremia (P=0.03), and non-randomly associated genes near the TNF locus are likely involved in control ofAIDS.
References
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Journal ArticleDOI
Genetic polymorphism in human glycine-rich beta-glycoprotein.
TL;DR: Electrophoretic studies of fragments from defined types of GBG suggested that GBG cleavage induced by complement or properdin activation in serum occurred through this C moiety, since two variants were detectable in one fragment and two were found in the other fragment.
Journal ArticleDOI
Inherited structural polymorphism of the fourth component of human complement.
Zuheir L. Awdeh,Chester A. Alper +1 more
TL;DR: Close linkage with no crossovers was found between the two C4 loci, allowing the definition of C4AB haplotypes, and between C4 haplotypes and the C2 and BF loci of the human histocompatibility complex.
Journal ArticleDOI
Two HLA-linked loci controlling the fourth component of human complement
TL;DR: Family studies showed that this polymorphism of C4 did not segregate with HLA histocompatibility genes in a fashion governed by two codominant alleles at a single genetic locus, in agreement with the hypothesis that two different genetic loci control the electrophoretic patterns of C 4.
Journal ArticleDOI
Evidence for linkage between HL-A histocompatibility genes and those involved in the synthesis of the second component of complement.
TL;DR: In this paper, a family with C2 deficiency revealed evidence for close linkage between the C2 defect and the histocompatibility HL-A loci, and the possible significance of such linkage was discussed.
Journal ArticleDOI
Linkage of HL-A and GBG.
TL;DR: The HL‐A histocompatibility locus is closely linked to that for the glycinerich β‐glycoprotein polymorphism and no recombinants were seen among 44 children from 12 informative families.
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Inherited structural polymorphism of the fourth component of human complement.
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