Literature DB >> 6230396

Genetic polymorphism of human factor H (beta 1H).

S Rodríguez de Córdoba, P Rubinstein.   

Abstract

Human Factor H (beta 1H) was found to be polymorphic after neuraminidase treatment and isoelectric focusing (IEF) under completely denaturing conditions. Three variants, FH 1, FH 2, and FH 3, were identified in a sample population of 81 unrelated caucasoid individuals. Family studies demonstrated correct mendelian segregation of FH 1, FH 2, and FH 3. Our data indicate that these genetic variants of human Factor H are encoded by three codominant alleles, FH*1, FH*2, and FH*3, at a single autosomal locus FH. In the sample analyzed, the gene frequencies of FH*1, FH*2, and FH*3 were, respectively, 0.691, 0.302, and 0.006.

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Year:  1984        PMID: 6230396

Source DB:  PubMed          Journal:  J Immunol        ISSN: 0022-1767            Impact factor:   5.422


  12 in total

1.  Polymorphism and deficiency of human factor H-related proteins p39 and p37.

Authors:  E Feifel; W M Prodinger; M Mölgg; W Schwaeble; D Schönitzer; V Koistinen; R Misasi; M P Dierich
Journal:  Immunogenetics       Date:  1992       Impact factor: 2.846

Review 2.  Complement activation, regulation, and molecular basis for complement-related diseases.

Authors:  Goran Bajic; Søren E Degn; Steffen Thiel; Gregers R Andersen
Journal:  EMBO J       Date:  2015-10-21       Impact factor: 11.598

3.  Human factor H (beta 1H-globulin): linkage analysis.

Authors:  J Kömpf; C Luckenbach; D Kloor; F Schunter; P Wernet; H Ritter
Journal:  Hum Genet       Date:  1988-06       Impact factor: 4.132

4.  Sequence polymorphism of human complement factor H.

Authors:  A J Day; A C Willis; J Ripoche; R B Sim
Journal:  Immunogenetics       Date:  1988       Impact factor: 2.846

5.  New alleles of C4-binding protein and factor H and further linkage data in the regulator of complement activation (RCA) gene cluster in man.

Authors:  S Rodriguez de Cordoba; P Rubinstein
Journal:  Immunogenetics       Date:  1987       Impact factor: 2.846

6.  Genetic polymorphism of human factor I (C3b inactivator).

Authors:  S Nakamura; K Abe
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

7.  Structural and functional characterization of factor H mutations associated with atypical hemolytic uremic syndrome.

Authors:  Pilar Sánchez-Corral; David Pérez-Caballero; Olatz Huarte; Ari M Simckes; Elena Goicoechea; Margarita López-Trascasa; Santiago Rodríguez de Córdoba
Journal:  Am J Hum Genet       Date:  2002-11-06       Impact factor: 11.025

8.  Evidence for linkage between the loci coding for the binding protein for the fourth component of human complement (C4BP) and for the C3b/C4b receptor.

Authors:  S Rodriguez de Cordoba; T R Dykman; F Ginsberg-Fellner; G Ercilla; M Aqua; J P Atkinson; P Rubinstein
Journal:  Proc Natl Acad Sci U S A       Date:  1984-12       Impact factor: 11.205

9.  Does the mouse C4-binding protein gene (C4BP) map in the H-2 region?

Authors:  S Rodríguez de Córdoba; A Ferreira; P Rubinstein
Journal:  Immunogenetics       Date:  1985       Impact factor: 2.846

10.  Murine protein H is comprised of 20 repeating units, 61 amino acids in length.

Authors:  T Kristensen; B F Tack
Journal:  Proc Natl Acad Sci U S A       Date:  1986-06       Impact factor: 11.205

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