Home LiteratureArticle Details
PMID: 2032331 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Detecting multiple cystic fibrosis mutations by polymerase chain reaction-mediated site-directed mutagenesis.

Clinical chemistry ·Vol. 37 ·No. 5 ·1991-05-00 ·Pages 753-5

Friedman KJ, Highsmith WE, Silverman LM

Abstract

The polymerase chain reaction (PCR) has been applied in a novel manner to detect the multiple mutations causing cystic fibrosis (CF). PCR-mediated site-directed mutagenesis (PSM) has been applied to create allele-specific restriction enzyme cutting sites for three of the more common mutations. Two other mutations after cutting sites on their own. We discuss the implications for the expedient detection of five different CF-causing mutations.

MeSH Terms
Base Sequence Chromosome Deletion Cystic Fibrosis/diagnosis,genetics DNA/analysis Electrophoresis, Polyacrylamide Gel Humans Molecular Sequence Data Mutagenesis, Site-Directed Mutation/genetics Polymerase Chain Reaction Restriction Mapping
Chemicals
DNA
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Friedman K J
Department of Hospital Laboratories, North Carolina Memorial Hospital, University of North Carolina, Chapel Hill 27514.
Highsmith W E
Silverman L M
Article Info
Journal
Clinical chemistry
Abbr.
Clin Chem
ISSN
0009-9147
Published
1991-05-00
Pages
753-5
Language
English
Region
England
NLM ID
9421549
Subset
IM
Analysis Services
Analysis Services

Contact

No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong

Qilu Normal University · Genelibs Bioinformatics Lab

750 Shunhua Rd, Jinan

2F, Bldg F, University Science Park

Tel: 0531-88819269

WeChat Official Account

Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.


Business Email

E-mail: product@genelibs.com