Molecular analysis of hemophilia B in Poland: 12 novel mutations of the factor IX gene.

K Wulff; K Bykowska; S Lopaciuk; F H Herrmann

doi:10.18388/abp.1999_4144

Molecular analysis of hemophilia B in Poland: 12 novel mutations of the factor IX gene.

K Wulff Institute of Human Genetics, Ernst-Moritz-Arndt University, Greifswald, Germany.;
K Bykowska
S Lopaciuk
F H Herrmann

DOI: https://doi.org/10.18388/abp.1999_4144

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.

Published

1999-09-30

Issue

Vol. 46 No. 3 (1999)

Section

Articles

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