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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Stiff-person syndrome: an autoimmune disease.
Philip Blum,Joseph Jankovic +1 more
TL;DR: Two patients with this syndrome who had GAD antibodies in both CSF and serum are described, providing additional evidence of an autoimmune etiology of SPS and of the role of immunotherapy in its treatment.
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Increased frequency of the null allele at the complement C4b locus in autism.
TL;DR: The autistic subjects and their mothers had significantly increased phenotypic frequencies of the C4B null allele and the siblings of the autistic subjects also had an increased frequency of this null allele, but this increase was not significant.
Journal ArticleDOI
Genetic linkage of IgA deficiency to the major histocompatibility complex: evidence for allele segregation distortion, parent-of-origin penetrance differences, and the role of anti-IgA antibodies in disease predisposition.
Igor Vořechovský,Igor Vořechovský,A. David B. Webster,Alessandro Plebani,Lennart Hammarström +4 more
TL;DR: An increased allele sharing at 6p21 in affected members of 83 multiplex IgAD/CVID pedigrees is shown and family-based associations indicating the presence of a predisposing locus, designated "IGAD1," in the proximal part of the major histocompatibility complex (MHC) are demonstrated.
Journal ArticleDOI
Familial Juvenile Onset Psoriasis Is Associated with the Human Leukocyte Antigen (HLA) Class I side of the Extended Haplotype Cw6-B57-DRB1*0701-DQA1*0201-DQB1*0303: A Population- And Family-Based Study
Marcus Schmitt-Egenolf,Marcus Schmitt-Egenolf,Thomas Eiermann,Wolf-Henning Boehncke,Markward Ständer,Wolfram Sterry +5 more
TL;DR: Results strongly suggest that a gene for familial psoriasis is associated with the class I side of the extended haplotype Cw6-B57-DRB1*0701-DQA1*0201-DQB1* 0303.
Journal ArticleDOI
Serum complement 'supergenes' of the major histocompatibility complex in man (complotypes).
TL;DR: There are 14 complotypes with frequencies in excess of 1% in the study population of normal sixth chromosomes from Caucasians, and they are also intimately associated with HLA‐DR, so they may be of importance in screening programs for transplantation.
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.
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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.
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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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