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Literature DB >> 7451653

Genetic analysis of C4 deficiency.

Abstract

The inherited structural polymorphism in the fourth component of complement was studied in the family of a child with homozygous deficiency of this protein. It was shown that a number of family members, including the child's parents, carried a C4 haplotype, C4A*QO C4B*QO, that produced no detectable protein at either the Chido (C4B) or Rodgers (C4A) locus. The family contained individuals with one, two, three, or four expressed C4 genes, and the mean serum C4 levels in such individuals roughly reflected the number of structural genes.

Entities: Gene Species

Mesh：

Substances：
Complement C4

Year: 1981 PMID： 7451653 PMCID： PMC371595 DOI： 10.1172/JCI110021

Source DB: PubMed Journal: J Clin Invest ISSN： 0021-9738 Impact factor: 14.808

15 in total

1. Linkage between the gene (or genes) controlling synthesis of the fourth component of complement and the major histocompatibility complex.

Authors: H D Ochs; S I Rosenfeld; E D Thomas; E R Giblett; C A Alper; B Dupont; J G Schaller; B C Gilliland; J A Hansen; R J Wedgwood
Journal: N Engl J Med Date: 1977-03-03 Impact factor: 91.245

2. International system for human gene nomenclature (1979) ISGN (1979).

Authors: T B Shows; C A Alper; D Bootsma; M Dorf; T Douglas; T Huisman; S Kit; H P Klinger; C Kozak; P A Lalley; D Lindsley; P J McAlpine; J K McDougall; P Meera Khan; M Meisler; N E Morton; J M Opitz; C W Partridge; R Payne; T H Roderick; P Rubinstein; F H Ruddle; M Shaw; J W Spranger; K Weiss
Journal: Cytogenet Cell Genet Date: 1979

3. alpha-Globin gene organisation in blacks precludes the severe form of alpha-thalassaemia.

Authors: A M Dozy; Y W Kan; S H Embury; W C Mentzer; W C Wang; B Lubin; J R Davis; H M Koenig
Journal: Nature Date: 1979-08-16 Impact factor: 49.962

4. Immunochemical quantitation of antigens by single radial immunodiffusion.

Authors: G Mancini; A O Carbonara; J F Heremans
Journal: Immunochemistry Date: 1965-09

5. Inherited deficiency of the third component of human complement (C'3).

Authors: C A Alper; R P Propp; M R Klemperer; F S Rosen
Journal: J Clin Invest Date: 1969-03 Impact factor: 14.808

6. Chido and Rodgers blood groups are distinct antigenic components of human complement C4.

Authors: G J O'Neill; S Y Yang; J Tegoli; R Berger; B Dupont
Journal: Nature Date: 1978-06-22 Impact factor: 49.962

7. Genetic polymorphism of human complement C4 and detection of heterozygotes.

Authors: Z L Awdeh; D Raum; C A Alper
Journal: Nature Date: 1979-11-08 Impact factor: 49.962

8. Evidence for a silent or null gene in hereditary C2 deficiency.

Authors: K M Pariser; D Raum; E M Berkman; C A Alper; V Agnello
Journal: J Immunol Date: 1978-12 Impact factor: 5.422

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

11 in total

1. Effects of C4 null alleles and homoduplications on quantitative expression of C4A and C4B.

Authors: A Hammond; W Ollier; M J Walport
Journal: Clin Exp Immunol Date: 1992-04 Impact factor: 4.330

2. Reference ranges for serum C4 concentrations in subjects with and without C4 null alleles.

Authors: G Uko; F T Christiansen; R L Dawkins; V J McCann
Journal: J Clin Pathol Date: 1986-05 Impact factor: 3.411

Review 3. Inherited deficiencies of complement proteins in man.

Authors: C A Alper; F S Rosen
Journal: Springer Semin Immunopathol Date: 1984

4. Low serum C4 concentrations in insulin dependent diabetes mellitus.

Authors: G Uko; F T Christiansen; R L Dawkins; P H Kay
Journal: Br Med J (Clin Res Ed) Date: 1983-05-28

5. Low C4 concentrations in insulin dependent diabetes mellitus.

Authors: R L Dawkins; G Uko; F T Christiansen; P H Kay
Journal: Br Med J (Clin Res Ed) Date: 1983-09-17

6. Association of Sjögren's syndrome with C4 deficiency, defective reticuloendothelial function and circulating immune complexes.

Authors: P Hersey; S Lawrence; D Prendergast; C Bindon; W Benson; P Valk
Journal: Clin Exp Immunol Date: 1983-06 Impact factor: 4.330

7. Inherited incomplete deficiency of the fourth component of complement (C4) determined by a gene not linked to human histocompatibility leukocyte antigens.

Authors: W A Muir; S Hedrick; C A Alper; O D Ratnoff; B Schacter; J J Wisnieski
Journal: J Clin Invest Date: 1984-10 Impact factor: 14.808

8. Serum C3 and C4 levels and complement-dependent antibody-mediated cytotoxic activity of islet cell surface antibody in type 1 (insulin-dependent) diabetic children.

Authors: S Okada; K Sato; Y Miyai; Y Masaki; T Higuchi; Y Ogino; Z Ota
Journal: Diabetologia Date: 1987-11 Impact factor: 10.122

9. Serum C4 concentration in the monitoring of systemic lupus erythematosus: requirement for C4 allotyping.

Authors: G Uko; F T Christiansen; R L Dawkins
Journal: Rheumatol Int Date: 1986 Impact factor: 2.631

10. Human C4 haplotypes with duplicated C4A or C4B.

Authors: D Raum; Z Awdeh; J Anderson; L Strong; J Granados; L Teran; E Giblett; E J Yunis; C A Alper
Journal: Am J Hum Genet Date: 1984-01 Impact factor: 11.025