Open AccessMolecular analysis of hemophilia B in Poland: 12 novel mutations of the factor IX gene.
Author(s) -
K. Wulff,
Ksenia Bykowska,
S Łopaciuk,
Falko H. Herrmann
Publication year - 1999
Publication title -
acta biochimica polonica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.452
H-Index - 78
eISSN - 1734-154X
pISSN - 0001-527X
DOI - 10.18388/abp.1999_4144
Subject(s) - heteroduplex , point mutation , missense mutation , factor ix , nonsense mutation , genetics , gene , polymerase chain reaction , mutation , biology , microbiology and biotechnology
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.