title: Determination of complement factor H functional polymorphisms (V62I, Y402H, and E936D) using sequence-specific primer PCR and restriction fragment length polymorphisms.
abstract: BACKGROUND
  Complement factor H (CFH; HF) is an essential regulatory protein that plays a critical role in the homeostasis of the complement system in plasma. Several polymorphisms and mutations in the complement factor H gene (CFH; HF1) have been identified. These have revealed interesting associations with hemolytic-uremic syndrome and age-related macular degeneration.
  
  
  RESULTS
  The aim of this study was to develop a rapid and reliable assay for determining genotypic variants of the CFH gene. Sequence-specific primer PCR and restriction fragment length polymorphism techniques were chosen for the analysis of CFH polymorphisms. The assays detected the following published single nucleotide polymorphisms of CFH in our Caucasian population (n = 271): rs800292, 257G-->A (V62I); rs1061170, 1277T-->C (Y402H); and rs1065489, 2881G-->T (E936D). The allele frequencies (257G = 0.850, 1277T = 0.574, and 2881G = 0.839) that we obtained from a healthy Hungarian population were consistent with previously published results.
  
  
  CONCLUSIONS
  These analytical methods are simple, reliable, and rapid to perform, and are amenable to automation. Therefore, they could facilitate large-scale genotypic analyses of the CFH gene in various diseases, such as hemolytic-uremic syndrome, age-related macular degeneration, and cardiovascular diseases.
authors.affiliation: Third Department of Internal Medicine, Faculty of Medicine, Semmelweis University, Szentágothai János Knowledge Center, Budapest, Hungary.
authors.forename: Adrienn
authors.initials: A
authors.lastname: Bíró
authors.forename: Zoltán
authors.initials: Z
authors.lastname: Prohászka
authors.forename: George
authors.initials: G
authors.lastname: Füst
authors.forename: Bernadett
authors.initials: B
authors.lastname: Blaskó
mesh_terms: D000328:Adult; D001483:Base Sequence; D017242:Complement Factor H / Q000235:genetics; D017931:DNA Primers; D005260:Female; D005787:Gene Frequency; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction / Q000379:methods*; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D016415:Sequence Alignment
chemical_list: C493495:CFH protein, human; D017931:DNA Primers; D017242:Complement Factor H