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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Differences Between Membranoproliferative Glomerulonephritis Types I and III in Clinical Presentation, Glomerular Morphology, and Complement Perturbation
Elizabeth C. Jackson,A. James McAdams,C. Frederic Strife,Judith Forristal,Thomas R. Welch,Clark D. West +5 more
TL;DR: Despite their differences, types I and III are variants of the same disease, and there is compelling evidence from other studies that a predisposition to both types is inherited and that similar genetic factors are operative in the two types.
Journal ArticleDOI
Haplotype study on C4 polymorphism in Japanese. Associations with MIHC Alleles, complotypes, and HLA-complement haplotypes
Katsushi Tokunaga,Keiichi Omoto,Tatsuya Akaza,Nobuo Akiyama,Hiroshi Amemiya,Setsuya Naito,Takehiko Sasazuki,Hiroyuki Satoh,Takeo Juji +8 more
TL;DR: Genetic polymorphism of the fourth component of human complement (C4) was investigated in 83 Japanese families which have been typed for HLA-A, -B, -C, -DR, C2, and BF and strong positive gametic associations were found in the following C4-HLA haplotypes.
Journal ArticleDOI
Conserved extended haplotypes discriminate HLA-DR3-homozygous Basque patients with type 1 diabetes mellitus and celiac disease
Jose Ramon Bilbao,Begoña Calvo,Ana M. Aransay,Ainhoa Martín-Pagola,G. Pérez de Nanclares,Theresa A. Aly,Itxaso Rica,Juan Carlos Vitoria,Sonia Gaztambide,Janelle A. Noble,Pamela R. Fain,Zuheir L. Awdeh,Chester A. Alper,Luis Castaño +13 more
TL;DR: High-density single nucleotide polymorphism (SNP) analysis of the complete CEH revealed extraordinary conservation throughout the 4.9 Mbp analyzed supporting the existence of additional diabetogenic variants conserved within the DR3-B18 CEH (but not in other DR3 haplotypes) that could explain its enhanced diabetogenicity.
Journal ArticleDOI
Analysis of Single Nucleotide Polymorphisms Identifies Major Type 1A Diabetes Locus Telomeric of the Major Histocompatibility Complex
Theresa A. Aly,Erin E. Baschal,Mohamed M. Jahromi,Maria S. Fernando,Sunanda R. Babu,Tasha E. Fingerlin,Adam Kretowski,Henry A. Erlich,Pamela R. Fain,Marian Rewers,George S. Eisenbarth +10 more
TL;DR: Polymorphisms in the region of the UBD/MAS1L genes are associated with type 1A diabetes independent of HLA class II and I alleles.
Journal ArticleDOI
IgA deficiency and the MHC: assessment of relative risk and microheterogeneity within the HLA A1 B8, DR3 (8.1) haplotype.
Javad Mohammadi,Ryan Ramanujam,Sara Jarefors,Nima Rezaei,Asghar Aghamohammadi,Peter K. Gregersen,Lennart Hammarström +6 more
TL;DR: The results do not support the hypothesis that IgA deficiency is associated with a distinct subgroup of 8.1 related haplotypes, but rather indicate that risk is conferred by the common 8.
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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