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 A*02 allele frequencies and B haplotype associations in Western Indians.
TL;DR: A substantial heterogeneity is demonstrated in the frequencies of human leukocyte antigen A*02 alleles and their B* allele haplotype associations among 664 healthy unrelated Western Indians, which may be a consequence of founder effect, racial admixture, or selection pressure due to environmental factors.
Journal ArticleDOI
HLA antigens and complotypes in insulin-dependent diabetes mellitus
TL;DR: Examination of HLA, Bf and C4 phenotypes suggested that at least two supratypes "B15 BfS C4A3B3 D(R)4" and "B8 BfC4A0B1 D( R)3" were markers for the susceptibility to type I diabetes, one third of patients had either of these supr atypes.
Book ChapterDOI
Polymorphic olfactory receptor genes and HLA loci constitute extended haplotypes
Andreas Ziegler,Anke Ehlers,Simon Forbes,John Trowsdale,Barbara Uchanska-Ziegler,Armin Volz,Ruth Younger,Stephan Beck +7 more
TL;DR: If HLA and HLA-linked polymorphic OR genes also turn out to be functionally connected, a view supported by the finding of polymorphism of these OR genes, the entire region might be considered to constitute an extended gene complex which could be designated “Immuno-Olfactory Supercomplex” (IOS).
Journal ArticleDOI
Defining the allelic variants of HLA A19 in the western Indian population.
TL;DR: Investigation of the genetic diversity of human leukocyte antigen (HLA A19) in Western Indians revealed a high occurrence of A*3303 in this population along with other common oriental alleles, which may be a consequence of the founder effect, racial admixture, or selection pressure due to environmental factors among this population.
Journal ArticleDOI
Intrahaplotypic Variants Differentiate Complex Linkage Disequilibrium within Human MHC Haplotypes.
TL;DR: The strong linkage disequilibrium structure within the human MHC that typically confounds precise identification of genetic features can be resolved using intra-CEH variants, as evidenced by rs3129063 and rs448489, which affect expression of ZFP57, a gene important in methylation and epigenetic regulation.
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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