title: Molecular analysis of hemophilia B in Poland: 12 novel mutations of the factor IX gene.
abstract: We examined the molecular basis of factor IX deficiency in 53 unrelated Polish patients with hemophilia B. Heteroduplex analysis and direct sequencing of polymerase chain reaction (PCR) products were applied to identify the gene defect. Forty-three different point mutations were detected in the factor IX gene of 47 patients. There were 29 missense mutations, 9 nonsense mutations, 4 splice site mutations and 1 point mutation in the promoter region. Twelve mutations were novel. The results of this study emphasize a very high degree of heterogeneity of hemophilia B.
authors.affiliation: Institute of Human Genetics, Ernst-Moritz-Arndt University, Greifswald, Germany.
authors.forename: K
authors.initials: K
authors.lastname: Wulff
authors.forename: K
authors.initials: K
authors.lastname: Bykowska
authors.forename: S
authors.initials: S
authors.lastname: Lopaciuk
authors.forename: F H
authors.initials: FH
authors.lastname: Herrmann
mesh_terms: D000293:Adolescent; D000328:Adult; D018389:Codon, Nonsense / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons; D005164:Factor IX / Q000235:genetics*; D006239:Haplotypes; D002836:Hemophilia B / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020125:Mutation, Missense; D017354:Point Mutation; D011044:Poland; D016133:Polymerase Chain Reaction; D011401:Promoter Regions, Genetic
chemical_list: D018389:Codon, Nonsense; D005164:Factor IX