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Direct carrier testing in 14 families with haemophilia B.

Publication ,  Journal Article
Bottema, CD; Koeberl, DD; Sommer, SS
Published in: Lancet
September 2, 1989

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.

Duke Scholars

Published In

Lancet

DOI

ISSN

0140-6736

Publication Date

September 2, 1989

Volume

2

Issue

8662

Start / End Page

526 / 529

Location

England

Related Subject Headings

  • Transcription, Genetic
  • Polymorphism, Restriction Fragment Length
  • Pedigree
  • Nucleic Acid Amplification Techniques
  • Mutation
  • Male
  • Humans
  • Hemophilia B
  • Haplotypes
  • Genetic Carrier Screening
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Bottema, C. D., Koeberl, D. D., & Sommer, S. S. (1989). Direct carrier testing in 14 families with haemophilia B. Lancet, 2(8662), 526–529. https://doi.org/10.1016/s0140-6736(89)90653-3
Bottema, C. D., D. D. Koeberl, and S. S. Sommer. “Direct carrier testing in 14 families with haemophilia B.Lancet 2, no. 8662 (September 2, 1989): 526–29. https://doi.org/10.1016/s0140-6736(89)90653-3.
Bottema CD, Koeberl DD, Sommer SS. Direct carrier testing in 14 families with haemophilia B. Lancet. 1989 Sep 2;2(8662):526–9.
Bottema, C. D., et al. “Direct carrier testing in 14 families with haemophilia B.Lancet, vol. 2, no. 8662, Sept. 1989, pp. 526–29. Pubmed, doi:10.1016/s0140-6736(89)90653-3.
Bottema CD, Koeberl DD, Sommer SS. Direct carrier testing in 14 families with haemophilia B. Lancet. 1989 Sep 2;2(8662):526–529.

Published In

Lancet

DOI

ISSN

0140-6736

Publication Date

September 2, 1989

Volume

2

Issue

8662

Start / End Page

526 / 529

Location

England

Related Subject Headings

  • Transcription, Genetic
  • Polymorphism, Restriction Fragment Length
  • Pedigree
  • Nucleic Acid Amplification Techniques
  • Mutation
  • Male
  • Humans
  • Hemophilia B
  • Haplotypes
  • Genetic Carrier Screening