Literature DB >> 6585138

An unusual "morphologic" variant of BF S.

D Raum, T Surgenor, Z Awdeh, D Marcus, M Blumenthal, E J Yunis, C A Alper.   

Abstract

In the course of family studies of haplotypes of the alleles of the sixth chromosome loci HLA-A, C, B, D/DR, BF, C2, C4A, C4B, and glyoxalase I, we encountered an unusual BF variant. Its mobility was similar to BF F but it appeared to have a lesser intensity after straining with Coomassie Blue, and it was demonstrated by crossed immunoelectrophoresis to be present in lower concentration. It was therefore designated BF FQL. This variant was found on the haplotype HLA-A1, B17, DR7, BF*FQL, C2*C, C4A*6, C4B*1, GLO2. All other haplotypes of this type so far identified carry the BF variant BF S. Following activation of serum samples with zymosan, BF was analyzed by both agarose electrophoresis and isoelectric focusing and immunofixation. On both treatments, serum with BF SFQL produced a Ba pattern identical to that of a sample which was BF S. The Bb pattern for F and S are similar but differ from those of the rare variants BF F1 and BF S1. The Bb pattern of BF FQL was, thus, as expected, the same as BF F or BF S. Hence, we conclude that the variant is a mutant from BF S with mobility similar to BF F. The mutation seemed also to have resulted in a lower concentration of product than normal.

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Year:  1984        PMID: 6585138      PMCID: PMC1684408     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN: 0002-9297            Impact factor:   11.025


  14 in total

1.  Bf polymorphism: study of a new variant (F0.55).

Authors:  G Hauptmann; M M Tongio; S Mayer
Journal:  Hum Genet       Date:  1976-08-30       Impact factor: 4.132

2.  Bf polymorphism: another variant (S0.8).

Authors:  G Hauptmann; E Wertheimer; M M Tongio; S Mayer
Journal:  Hum Genet       Date:  1977-04-07       Impact factor: 4.132

3.  Haemolytic diffusion plate assays for factors B and D of the alternative pathway of complement activation.

Authors:  A Martin; P J Lachmann; L Halbwachs; M J Hobart
Journal:  Immunochemistry       Date:  1976-04

4.  Properdin factor B and histocompatibility loci linked in the rhesus monkey.

Authors:  J B Ziegler; C A Alper; H Balner
Journal:  Nature       Date:  1975-04-17       Impact factor: 49.962

5.  Polymorphism of red cell glyoxalase I (EI: 4.4.1.5); a new genetic marker in man. Investigation of 169 mother-child combinations.

Authors:  J Kömpf; S Bissbort; S Gussmann; H Ritter
Journal:  Humangenetik       Date:  1975

6.  Quantitative deficiency of chain-specific globin messenger ribonucleic acids in the thalassemia syndromes.

Authors:  D Housman; B G Forget; A Skoultchi; E J Benz
Journal:  Proc Natl Acad Sci U S A       Date:  1973-06       Impact factor: 11.205

7.  Decreased globin messenger RNA in thalassemia detected by molecular hybridization.

Authors:  D L Kacian; R Gambino; L W Dow; E Grossbard; C Natta; F Ramirez; S Spiegelman; P A Marks; A Bank
Journal:  Proc Natl Acad Sci U S A       Date:  1973-06       Impact factor: 11.205

8.  Studies of a hypomorphic variant of human C3.

Authors:  C A Alper; F S Rosen
Journal:  J Clin Invest       Date:  1971-02       Impact factor: 14.808

9.  Inherited structural polymorphism in human C2: evidence for genetic linkage between C2 and Bf.

Authors:  C A Alper
Journal:  J Exp Med       Date:  1976-10-01       Impact factor: 14.307

10.  Genetic polymorphism in human glycine-rich beta-glycoprotein.

Authors:  C A Alper; T Boenisch; L Watson
Journal:  J Exp Med       Date:  1972-01       Impact factor: 14.307

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  2 in total

1.  Apparently non-expressed alleles of factor B (BF) code for hypomorphic proteins.

Authors:  I Siemens; M Brenden; G Mauff; M Abbal; E Du Toit; J Bertrams; G Geserick
Journal:  Immunogenetics       Date:  1992       Impact factor: 2.846

2.  A new BF variant (BF S11) with information for orientation of MHC class III genes.

Authors:  M Abbal; C Moennarid; A Cambon-Thomsen; J Tkaczuk; E Ohayon; G Mauff
Journal:  Immunogenetics       Date:  1987       Impact factor: 2.846

  2 in total

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