Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 1992 Mar;29(3):191-6.
doi: 10.1136/jmg.29.3.191.

Analysis of quantitative PCR for the diagnosis of deletion and duplication carriers in the dystrophin gene

S Abbs  1 , M Bobrow
Affiliations

Analysis of quantitative PCR for the diagnosis of deletion and duplication carriers in the dystrophin gene

S Abbs et al. J Med Genet. 1992 Mar.

Abstract

A direct, non-radioactive method of quantitative PCR amplification has been investigated for the diagnosis of deletion and duplication carriers in the dystrophin gene. The simultaneous amplification of two loci, or several loci using multiplex PCR, allows for the direct comparison of relative amounts of products from normal homozygous loci and potentially heterozygous deleted/duplicated loci. Sufficient cycles of PCR are performed to enable visual analysis or densitometric quantification of products on ethidium bromide stained gels. The method has been verified in blind trials performed on known genotypes and by showing that under the conditions used the assay remains within the exponential phase of amplification.

PubMed Disclaimer

References

    1. J Med Genet. 1991 May;28(5):304-11 - PubMed
    1. Cell. 1987 Jul 31;50(3):509-17 - PubMed
    1. J Med Genet. 1989 Nov;26(11):682-93 - PubMed
    1. Nature. 1987 Oct 8-14;329(6139):554-6 - PubMed
    1. Nature. 1987 Oct 15-21;329(6140):640-2 - PubMed

Publication types