Hemophilia B with Inhibitor: Molecular Analysis of the Subtotal Deletion of the Factor IX Gene

Overview

Journal Blood

Publisher Elsevier

Specialty Hematology

Date 1985 Sep 1

PMID 2992643

Citations 8

Authors

H J Hassan

A Leonardi

R Guerriero

C Chelucci

L Cianetti

N Ciavarella

P Ranieri

D Pilolli

C Peschle

Affiliations

Soon will be listed here.

Abstract

The structure of factor IX gene was analyzed in a hemophilia B patient with inhibitor. Genomic DNA, digested with a variety of restriction endonucleases, was hybridized with the cDNA and various genomic factor IX probes. A large subtotal deletion of the gene was observed. The borders of the deletion span from a approximately 125 nucleotide region within the last exon to an unknown domain at least 7.5 kb upstream from the first exon: it thus involves approximately 33 kb of the factor IX locus. The abnormal gene was inherited by the daughter of the propositus, who showed both the normal and the deleted allele.

Citing Articles

The Italian haemophilia B mutation database: a tool for genetic counselling, carrier detection and prenatal diagnosis.

Tagariello G, Belvini D, Salviato R, Di Gaetano R, Zanotto D, Radossi P Blood Transfus. 2009; 5(3):158-63.

PMID: 19204769 PMC: 2535890. DOI: 10.2450/2007.0024-07.

Restriction endonuclease mapping of six novel deletions of the factor VIII gene in hemophilia A.

Youssoufian H, Kasper C, Phillips D, Kazazian Jr H, Antonarakis S Hum Genet. 1988; 80(2):143-8.

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Heterogeneity of the factor IX locus in nine hemophilia B inhibitor patients.

Matthews R, Anson D, Peake I, Bloom A J Clin Invest. 1987; 79(3):746-53.

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Molecular studies of haemophilia B in Sweden. Identification of patients with total deletion of the factor IX gene and without inhibitory antibodies.

Wadelius C, Blomback M, Pettersson U Hum Genet. 1988; 81(1):13-7.

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Nullisomic deletion of the mcf.2 transforming gene in two haemophilia B patients.

Anson D, Blake D, Winship P, Birnbaum D, Brownlee G EMBO J. 1988; 7(9):2795-9.

PMID: 2846283 PMC: 457070. DOI: 10.1002/j.1460-2075.1988.tb03134.x.