Heteroduplex screening for molecular defects in factor IX genes from haemophilia B families

Br J Haematol. 1995 Feb;89(2):409-12. doi: 10.1111/j.1365-2141.1995.tb03319.x.

Abstract

Heteroduplex screening of amplified fragments containing sequences of all known small haemophilic mutations in the factor IX gene localized mutations in 18 new families: 12 were at common recurrent sites; three were novel. Carriers and/or patients from each of 41 families with mutations in 7 exons and 5' and 3' non-coding regions were positive.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • DNA / analysis
  • DNA / genetics
  • Factor IX / genetics*
  • Genetic Carrier Screening
  • Genetic Testing / methods*
  • Hemophilia B / diagnosis*
  • Hemophilia B / genetics
  • Humans
  • Mutation
  • Nucleic Acid Heteroduplexes / genetics

Substances

  • Nucleic Acid Heteroduplexes
  • Factor IX
  • DNA