First-trimester prenatal diagnosis of cystic fibrosis using the polymerase chain reaction: Report of eight cases

1989 ◽  
Vol 9 (5) ◽  
pp. 349-355 ◽  
Author(s):  
Paolo Gasparini ◽  
Giuseppe Novelli ◽  
Anna Savoia ◽  
Bruno Dallapiccola ◽  
Pier Franco Pignatti
Keyword(s):  
Cystic Fibrosis ◽  
Polymerase Chain Reaction ◽  
Prenatal Diagnosis ◽  
First Trimester ◽  
Chain Reaction ◽  
Reaction Report ◽  
Polymerase Chain

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

1991 ◽  
Vol 37 (5) ◽  
pp. 753-755 ◽  
Author(s):  
K J Friedman ◽  
W E Highsmith ◽  
L M Silverman
Keyword(s):  
Cystic Fibrosis ◽  
Polymerase Chain Reaction ◽  
Restriction Enzyme ◽  
Site Directed Mutagenesis ◽  
Directed Mutagenesis ◽  
Chain Reaction ◽  
Allele Specific ◽  
Specific Restriction ◽  
Polymerase Chain

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.

scholarly journals Identification of Cystic Fibrosis Variants by Polymerase Chain Reaction/Oligonucleotide Ligation Assay

2009 ◽  
Vol 11 (3) ◽  
pp. 211-215 ◽  
Author(s):  
Karen M. Schwartz ◽  
Lisa L. Pike-Buchanan ◽  
Kasinathan Muralidharan ◽  
Joy B. Redman ◽  
Jean Amos Wilson ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Polymerase Chain Reaction ◽  
Chain Reaction ◽  
Oligonucleotide Ligation Assay ◽  
Polymerase Chain
Sign in / Sign up

Export Citation Format

Share Document