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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Early-onset autoimmune hepatitis is associated with a C4A gene deletion.
TL;DR: A C4A gene deletion is found in patients with autoimmune hepatitis, especially those presenting at a young age, and this complement gene deletion may be an important factor in the development of this disease.
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NcoI restriction fragment length polymorphism (RFLP) of the tumour necrosis factor (TNF alpha) region in primary biliary cirrhosis and in healthy Danes.
Lars Fugger,Niels Morling,L. P. Ryder,P. Platz,J. Georgsen,Bodil K. Jakobsen,A. Svejgaard,Kim Dalhoff,Leo Ranek +8 more
TL;DR: The restriction fragment length polymorphism of the human tumour necrosis factor (TNFα) region was investigated by means of 20 different restriction enzymes and a human TNFα cDNA probe and only one of the enzymes, NcoI, revealed a polymorphic pattern consisting of fragments of 10.5 and 5.5 kb, which behaved as alleles.
Journal ArticleDOI
Phenotypes, genotypes and disease susceptibility associated with gene copy number variations: complement C4 CNVs in European American healthy subjects and those with systemic lupus erythematosus
Y.L. Wu,Y. Yang,E.K. Chung,B. Zhou,K.J. Kitzmiller,S.L. Savelli,Haikady N. Nagaraja,Daniel J. Birmingham,B.P. Tsao,Brad H. Rovin,L A Hebert,Chack-Yung Yu +11 more
TL;DR: This review describes the phenotypic and genotypic diversities of complement C4 created by copy number variations of RCCX modules (RP-C4-CYP21-TNX) and size dichotomy of C4 genes and concludes that lower copy number of C 4 is a risk factor for and higher gene copyNumber C4 is a protective factor against SLE disease susceptibility.
Journal ArticleDOI
A major histocompatibility complex Class III allotype (C4B 2) associated with Primary Biliary Cirrhosis (PBC)
TL;DR: Data presented here show, for the first time, a strong association in Caucasoids between PBC and the major histocompatibility complex (MHC), and strong evidence that this genetic area is implicated in the pathogenesis of this disease.
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Genetics of Human C4 Polymorphism: Detection and Segregation of Rare and Duplicated Haplotypes*
TL;DR: Combining a combined technology for the detection of allotypec variation of the fourth component of human complement (C4), including immunofixation with anti-C4 and C4-dependent lysis after agarose electrophoresis and the determination of Rodgers (Rg) and Chido (Ch) determinants of C4 in serum and at the blotted C4 α-chains, detected rare human C4 allotypes and studied the genetic linkage.
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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