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
More filters
Journal ArticleDOI
Frequent occurrence of conserved extended haplotypes (CEHs) in two Caucasian populations.
Ágnes Szilágyi,Zsófia Bánlaki,Éva Pozsonyi,Edmond J. Yunis,Zuheir L. Awdeh,Adrienn Hossó,Katalin Rajczy,Charles E. Larsen,Dolores A. Fici,Chester A. Alper,George Füst +10 more
TL;DR: It is found that 11 of 12 of the most common CEHs (with a frequency of at least 1%) among the Boston chromosomes also occurred in Hungary, and there was a significant correlation in the frequency order of these haplotypes between the two Caucasian populations.
Journal ArticleDOI
A restriction fragment of the C2 gene is a unique marker for C2 deficiency and the uncommon C2 allele C2*B (a marker for type 1 diabetes).
Susan Simon,Z Awdeh,R D Campbell,P Ronco nd,Stuart J. Brink,George S. Eisenbarth,Edmond J. Yunis,Chester A. Alper +7 more
TL;DR: C2*B (particularly as the haplotype HLA-Bw62, SB42,DR4, DR4) is associated with type 1 diabetes but C2*Q0 is protective but C1*C is informatively split by the RFLP.
Journal ArticleDOI
The patient with combined deficiency of neuraminidase and 21-hydroxylase.
F. Harada,Yasuharu Nishimura,Koichi Suzuki,Hideo Matsumoto,Takahiko Oohira,Ichiro Matsuda,Takehiko Sasazuki +6 more
TL;DR: Southern blot analysis revealed the existence of two 21-hydroxylase genes, so that there is no evidence to support the possibility that deletion en bloc in the HLA class III region had caused the combined deficiency of neuraminidase and 21-Hydroxylases.
Journal ArticleDOI
HLA Homozygosity and Shared HLA Haplotypes in the Development of Transfusion-Associated Graft-Versus-Host Disease
TL;DR: It is emphasized that transfusion of blood products from individuals who are homozygous at the HLA loci to heterozygous recipients who share that HLA haplotype occurs at a frequency proportional to the genetic homogeneity of the population and that the process mediating TA-GVHD in such instances appears to be independent of the host's immune status.
Journal ArticleDOI
Incomplete penetrance of MHC susceptibility genes: prospective analysis of polygenic MHC-determined traits
Chester A. Alper,Z Awdeh +1 more
TL;DR: An approach to understanding incomplete penetrance of disease susceptibility genes as a method of studying the underlying mechanisms of polygenic diseases and determining trait expression in homozygotes, heterozygotes or non-carriers of trait-associated conserved extended MHC haplotypes is proposed.
References
More filters
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.
Related Papers (5)
Inherited structural polymorphism of the fourth component of human complement.
Zuheir L. Awdeh,Chester A. Alper +1 more