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PMID: 1998344 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Rapid detection of CA polymorphisms in cloned DNA: application to the 5' region of the dystrophin gene.

American journal of human genetics ·Vol. 48 ·No. 3 ·1991-03-00 ·Pages 621-7

Feener CA, Boyce FM, Kunkel LM

Abstract

To identify CA repeats in genomic sequences which had been previously subcloned into plasmids, we performed PCR using a (CA)n primer and a flanking vector primer on the genomic inserts. By incorporation of a restriction enzyme site into the (CA)n primer, we have been able to subclone the genomic DNA so that the sequence flanking the CA repeat is readily determined. Primers can then be designed to amplify across the CA repeat in patient DNA samples. Application of this technique to genomic DNAs surrounding the upstream "brain" promoter of the dystrophin gene has led to the discovery of four new CA repeats. Three of these repeats are highly polymorphic, with PICs ranging from .586 to .768. The location of these markers at the extreme 5' terminus of the dystrophin gene, together with their high degree of polymorphism and ease of assay, makes them ideal for linkage analysis in families with Duchenne muscular dystrophy.

MeSH Terms

Base Sequence Chromosome Mapping Cloning, Molecular DNA/chemistry Dystrophin/genetics Female Genetic Linkage Genetic Markers Humans Male Molecular Sequence Data Muscular Dystrophies/genetics Pedigree Plasmids Polymerase Chain Reaction Polymorphism, Genetic Repetitive Sequences, Nucleic Acid

Chemicals

Dystrophin Genetic Markers DNA

Authors & Affiliations

3 authors, click to expand affiliations / ORCID

Feener C A

Division of Genetics, Howard Hughes Medical Institute, Children's Hospital, Boston, MA 02115.

Boyce F M

Kunkel L M

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23 references, click to expand

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Article Info

Journal

American journal of human genetics

Abbr.

Am J Hum Genet

ISSN

0002-9297

Published

1991-03-00

Pages

621-7

Language

English

Region

United States

NLM ID

0370475

PMCID

PMC1682967

Subset

External Links

PubMed source PMC Full Text View journal details

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Rapid detection of CA polymorphisms in cloned DNA: application to the 5' region of the dystrophin gene.

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