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

• Autorzy: Wulff K. , Bykowska K. , Lopaciuk S. , Herrmann F.H.
• Języki publikacji: EN

Abstrakty

EN

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.

Słowa kluczowe

EN

factor IX gene; patient; Poland; FIX gene; genomic diagnosis; molecular analysis; mutation; polymerase chain reaction; gene defect; hemophilia B

• Wydawca: -
• Czasopismo: Acta Biochimica Polonica
• Rocznik: 1999
• Tom: 46
• Numer: 3
• Opis fizyczny: p.721-726

Twórcy

autor

Wulff K.

• Ernst-Moritz-Arndt University, Fleischmannstr.42-44, D-17489 Greifswald, Germany

autor

Bykowska K.

autor

Lopaciuk S.

autor

Herrmann F.H.

Bibliografia

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