Heteroduplex analysis in hemophilia B: Detection of two novel factor IX gene mutations

M. Catherine Driscoll, Agnes Chu, Margaret W. Hilgartner

Research output: Contribution to journalArticle

6 Scopus citations

Abstract

Heteroduplex analysis of polymerase chain reaction (PCR)-amplified factor IX (FIX) sequences in eight hemophilia B pedigrees localized the causative hemophilia mutation to a single exon in each case. Subsequent PCR-based direct DNA sequence analysis identified two novel FIX mutations and six recurrent mutations. Three of the eight pedigrees represent sporadic hemophilia B, and direct mutation analysis facilitated hemophilia carrier diagnosis in each case.

Original languageEnglish (US)
Pages (from-to)324-327
Number of pages4
JournalAmerican Journal of Hematology
Volume51
Issue number4
DOIs
StatePublished - Apr 1 1996

Keywords

  • FIX gene mutation
  • Hemophilia B
  • Heteroduplex analysis

ASJC Scopus subject areas

  • Hematology

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