Direct carrier testing in 14 families with haemophilia B.

Journal Article (Journal Article)

Direct carrier testing was done in 54 at-risk female relatives of haemophilic patients by initially analysing 2.46 kb of the factor IX gene in 1 haemophiliac per family by genomic amplification with transcript sequencing. A presumptive mutation was found in all 14 haemophiliacs examined. Analyses were then done either by sequencing the appropriate region in at-risk female relatives or by detection of an altered restriction site. A simulation indicated that the mutation will be associated with an altered restriction site in about half the families. The technique has clinical application.

Full Text

Duke Authors

Cited Authors

  • Bottema, CD; Koeberl, DD; Sommer, SS

Published Date

  • September 2, 1989

Published In

Volume / Issue

  • 2 / 8662

Start / End Page

  • 526 - 529

PubMed ID

  • 2570235

International Standard Serial Number (ISSN)

  • 0140-6736

Digital Object Identifier (DOI)

  • 10.1016/s0140-6736(89)90653-3


  • eng

Conference Location

  • England