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PMID: 2848757 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

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

Human genetics ·Vol. 81 ·No. 1 ·1988-12-00 ·Pages 13-7

Wadelius C, Blombäck M, Pettersson U

Abstract

Fourteen patients suffering from haemophilia B have been screened for deletions and mutations. None of them produce antibodies against native factor IX. Three patients from the same family were found to have a total deletion of the factor IX gene. Two of the patients, who are cousins, have inherited the same maternal HLA haplotype indicating that postulated immune gene(s) located at the MHC locus might be of importance for the development of antibodies against factor IX. DXS99 is a locus closely linked to the factor IX gene and a recombination event in this family makes it likely that this locus is centromeric to the factor IX gene.

MeSH Terms
Antibodies/analysis Binding, Competitive Chromosome Deletion DNA Probes DNA Restriction Enzymes Factor IX/genetics,immunology Female HLA Antigens/genetics Hemophilia B/genetics,immunology Humans Male Pedigree
Chemicals
Antibodies DNA Probes HLA Antigens Factor IX DNA Restriction Enzymes
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Wadelius C
Department of Medical Genetics, University of Uppsala, Sweden.
Blombäck M
Pettersson U
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Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00283721
Published
1988-12-00
Pages
13-7
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00283721 View journal details
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