Literature DB >> 6745936

Population and formal genetics of the human C81(alpha-gamma) polymorphism.

C Rittner, W Hargesheimer, E Mollenhauer.   

Abstract

One hundred and ninety-six unrelated healthy individuals and 30 families with 75 offspring have been studied for the C81(alpha-gamma) polymorphism. The following allele frequencies were calculated: C81*A = 0.5536; C81*B = 0.4286; C81*A1 = 0.0178. Observed and expected phenotype frequencies were in a good agreement according to the Hardy Weinberg law. No exceptions from the mode of inheritance were found. In family W the segregation of the rare allele C81*A1 could be followed. Comparing the results of this study with previous data from Boston and Oslo, a combined technology including C8-dependent lysis and C8 structural variation is suggested for future investigations.

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Year:  1984        PMID: 6745936     DOI: 10.1007/BF00272993

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


  12 in total

1.  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

2.  Genetics of human C4 polymorphism: detection and segregation of rare and duplicated haplotypes.

Authors:  C Rittner; C M Giles; M H Roos; P Démant; E Mollenhauer
Journal:  Immunogenetics       Date:  1984       Impact factor: 2.846

3.  Human C4 polymorphism: pedigree analysis of qualitative, quantitative, and functional parameters as a basis for phenotype interpretations.

Authors:  G Mauff; K Bender; C M Giles; S Goldmann; W Opferkuch; B Wachauf
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

4.  The eighth component of human complement. Purification and physicochemical characterization of its unusual subunit structure.

Authors:  E W Steckel; R G York; J B Monahan; J M Sodetz
Journal:  J Biol Chem       Date:  1980-12-25       Impact factor: 5.157

5.  Two types of dysfunctional eighth component of complement (C8) molecules in C8 deficiency in man. Reconstitution of normal C8 from the mixture of two abnormal C8 molecules.

Authors:  F Tedesco; P Densen; M A Villa; B H Petersen; G Sirchia
Journal:  J Clin Invest       Date:  1983-02       Impact factor: 14.808

6.  Genetic polymorphism in C8 beta-chains. Evidence for two unlinked genetic loci for the eighth component of human complement (C8).

Authors:  C A Alper; D Marcus; D Raum; B H Petersen; T J Spira
Journal:  J Clin Invest       Date:  1983-11       Impact factor: 14.808

7.  [C6-polymorphism of the sixth component of complement: application to paternity cases (author's transl)].

Authors:  C Rittner; G Dewald; E Berghoff; E Mollenhauer
Journal:  Z Rechtsmed       Date:  1979-04-27

8.  A molecular basis for the two locus model of human complement component C4.

Authors:  M H Roos; E Mollenhauer; P Démant; C Rittner
Journal:  Nature       Date:  1982-08-26       Impact factor: 49.962

9.  Genetic control of the eighth component of complement.

Authors:  D Raum; M A Spence; D Balavitch; S Tideman; A D Merritt; R T Taggart; B H Petersen; N K Day; C A Alper
Journal:  J Clin Invest       Date:  1979-09       Impact factor: 14.808

10.  The membrane attack mechanism of complement: the three polypeptide chain structure of the eigth component (C8).

Authors:  W P Klob; H J Müller-Eberhard
Journal:  J Exp Med       Date:  1976-05-01       Impact factor: 14.307

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  8 in total

1.  DNA polymorphism of the human complement C8 beta gene: formal genetics and intragenic localization.

Authors:  D Herrmann; J M Sodetz; C Rittner; P M Schneider
Journal:  Immunogenetics       Date:  1989       Impact factor: 2.846

2.  Genetic polymorphism of human complement component C81 in the Japanese population.

Authors:  S Nakamura; O Ohue; K Abe
Journal:  Hum Genet       Date:  1986-04       Impact factor: 4.132

3.  Genetic polymorphism of complement component C8.

Authors:  S Rogde; B Mevåg; P Teisberg; T Gedde-Dahl; F Tedesco; B Olaisen
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

4.  The eighth component of human complement: molecular basis of C8A (C81) polymorphism.

Authors:  L Zhang; C Rittner; J M Sodetz; P M Schneider; T Kaufmann
Journal:  Hum Genet       Date:  1995-09       Impact factor: 4.132

5.  The human complement component C8B gene: structure and phylogenetic relationship.

Authors:  T Kaufmann; C Rittner; P M Schneider
Journal:  Hum Genet       Date:  1993-08       Impact factor: 4.132

6.  Human complement C81 (C8 A) polymorphism: detection and segregation of new variants.

Authors:  C Rittner; B Stradmann-Bellinghausen
Journal:  Hum Genet       Date:  1993-10       Impact factor: 4.132

Review 7.  Complement and glomerulonephritis--an update.

Authors:  R H McLean
Journal:  Pediatr Nephrol       Date:  1993-04       Impact factor: 3.714

8.  Human C81 (alpha-gamma) polymorphism: detection in the alpha-gamma subunit on SDS-PAGE, formal genetics and linkage relationship.

Authors:  C Rittner; W Hargesheimer; B Stradmann; J Bertrams; M P Baur; B H Petersen
Journal:  Am J Hum Genet       Date:  1986-04       Impact factor: 11.025

  8 in total

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