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Literature DB >> 3848405

Another family with a silent allele of properdin factor B polymorphism (BF QO).

Abstract

In five of eight members of a three generation family the existence of a silent allele of the properdin factor B polymorphism (BF QO) was indicated by immunofixation of BF electrophoretic variants and by the hemolytic overlay after isoelectric focusing of BF allotypes. This was further supported by the results of HLA-A, B, C, DR, C2, C4A, C4B, GLO-typing. BF protein was decreased in all heterozygous BF deficient family members. The absolute hemolytic activity, however, was obviously compensated for by an increased relative functional activity of the normal S or F alleles on the other chromosome.

Entities: Gene

Mesh：

Substances：

Year: 1985 PMID： 3848405 DOI： 10.1007/bf00295369

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

13 in total

1. Improved B cell typing for HLA-DR using nylon wool column enriched B lymphocyte preparations.

Authors: R Lowry; J Goguen; C B Carpenter; T B Strom; M R Garovoy
Journal: Tissue Antigens Date: 1979-10

2. 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

3. A hemolytically inactive gene product of factor B.

Authors: G Mauff; G Federmann; G Hauptmann
Journal: Immunobiology Date: 1980 Impact factor: 3.144

4. Statement on the nomenclature of human C4 allotypes.

Authors: G Mauff; C A Alper; Z Awdeh; J R Batchelor; J Bertrams; G Bruun-Petersen; R L Dawkins; P Démant; J Edwards; H Grosse-Wilde; G Hauptmann; P Klouda; L Lamm; E Mollenhauer; C Nerl; B Olaisen; G O'Neill; C Rittner; M H Roos; V Skanes; P Teisberg; L Wells
Journal: Immunobiology Date: 1983-03 Impact factor: 3.144

5. The BF locus and HLA: rare alleles coding for functionally active and inactive factor-B products.

Authors: G J O'Neill; P Miniter; C Nerl; S Y Yang; B Dupont; M S Pollack
Journal: Hum Immunol Date: 1982-11 Impact factor: 2.850

6. Properdin factor B-polymorphism. An indication for the existence of a Bf O-allele.

Authors: S Weidinger; F Schwarzfischer; H Cleve
Journal: Z Rechtsmed Date: 1979-08

Review 7. Inherited complement deficiencies.

Authors: P J Lachmann
Journal: Philos Trans R Soc Lond B Biol Sci Date: 1984-09-06 Impact factor: 6.237

8. Further study on a BF silent allele.

Authors: K Tokunaga; K Omoto; Y Yukiyama; M Sakurai; H Saji; E Maruya
Journal: Hum Genet Date: 1984 Impact factor: 4.132

9. Polymorphism of the second component of human complement (C2). Observation of the rare phenotype (C2 2 (= C2 B) and data on the localization of the C2 locus in the HLA region.

Authors: G Dewald; C Rittner
Journal: Vox Sang Date: 1979 Impact factor: 2.144

Another family with a silent allele of properdin factor B polymorphism (BF QO).

1. Improved B cell typing for HLA-DR using nylon wool column enriched B lymphocyte preparations.

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

3. A hemolytically inactive gene product of factor B.

4. Statement on the nomenclature of human C4 allotypes.

5. The BF locus and HLA: rare alleles coding for functionally active and inactive factor-B products.

6. Properdin factor B-polymorphism. An indication for the existence of a Bf O-allele.

Review 7. Inherited complement deficiencies.

8. Further study on a BF silent allele.

9. Polymorphism of the second component of human complement (C2). Observation of the rare phenotype (C2 2 (= C2 B) and data on the localization of the C2 locus in the HLA region.

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

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

2. Nomenclature for human complement factor B. WHO-IUIS Nomenclature Sub-Committee.

3. Properdin factor B(Bf) polymorphism in the population of Veneto, Italy.

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