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

Hagop Youssoufian, Carol K. Kasper, Deborah G. Phillips, Haig Kazazian, Stylianos E. Antonarakis

Research output: Contribution to journalArticle

Abstract

Hemophilia A is an X-linked disease of blood coagulation caused by deficiency of factor VIII. Using cloned cDNA, genomic and synthetic oligonucleotide factor VIII probes, we have identified six novel partial gene deletions in patients with severe hemophilia A. We have previously reported six other deletions of the factor VIII gene. The number of gross molecular defects (deletions, insertions) in the factor VIII gene in our series of 240 patients is 17 (3 insertions and 2 complicated deletions will be described elsewhere). No association was observed between the size or location of the deletions and the presence of inhibitors to factor VIII. No deletion breakpoint "hotspots" have been identified by restriction analysis. The parental origin of several of the deletions was determined.

Original languageEnglish (US)
Pages (from-to)143-148
Number of pages6
JournalHuman Genetics
Volume80
Issue number2
DOIs
StatePublished - Oct 1988

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Restriction Mapping
Factor VIII
Hemophilia A
Genes
Gene Deletion
Blood Coagulation
Oligonucleotides
Complementary DNA

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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Restriction endonuclease mapping of six novel deletions of the factor VIII gene in hemophilia A. / Youssoufian, Hagop; Kasper, Carol K.; Phillips, Deborah G.; Kazazian, Haig; Antonarakis, Stylianos E.

In: Human Genetics, Vol. 80, No. 2, 10.1988, p. 143-148.

Research output: Contribution to journalArticle

Youssoufian, Hagop ; Kasper, Carol K. ; Phillips, Deborah G. ; Kazazian, Haig ; Antonarakis, Stylianos E. / Restriction endonuclease mapping of six novel deletions of the factor VIII gene in hemophilia A. In: Human Genetics. 1988 ; Vol. 80, No. 2. pp. 143-148.
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