Application of three intragenic DNA polymorphisms for carrier detection in haemophilia B

J Med Genet. 1986 Aug;23(4):300-9. doi: 10.1136/jmg.23.4.300.

Abstract

In the west of Scotland use of a single intragenic restriction fragment length polymorphism (F9(VIII)/TaqI) allowed definitive genetic counselling for 45% of females at risk of being carriers for haemophilia B. Two further intragenic RFLPs, F9(VIII)/XmnI) and F9(VIII)/DdeI, have been applied to this population and by using all three polymorphisms the carrier status could be determined in 68% of females at risk. Linkage disequilibrium was apparent between these three RFLPs, and in the west of Scotland the single most clinically useful polymorphism was F9(VIII)/TaqI followed by F9(VIII)/DdeI and then F9(VIII)/XmnI. Overall, prenatal diagnosis by DNA analysis could be offered to 31 of 37 (84%) carriers (obligate and detected) in these families.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cloning, Molecular
  • DNA Restriction Enzymes
  • Factor IX / genetics*
  • Genetic Carrier Screening / methods
  • Hemophilia B / diagnosis*
  • Hemophilia B / genetics
  • Humans
  • Pedigree
  • Polymorphism, Genetic

Substances

  • Factor IX
  • DNA Restriction Enzymes