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

作者信息

Rodríguez de Córdoba S, Rubinstein P

出版信息

J Immunol. 1984 Apr;132(4):1906-8.

PMID:6230396
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, FH1, FH2, and FH3, at a single autosomal locus FH. In the sample analyzed, the gene frequencies of FH1, FH2, and FH3 were, respectively, 0.691, 0.302, and 0.006.

摘要

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