Literature DB >> 2032331

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

K J Friedman1, W E Highsmith, L M Silverman.   

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.

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Year:  1991        PMID： 2032331

Source DB:  PubMed          Journal:  Clin Chem        ISSN： 0009-9147            Impact factor:   8.327


  11 in total

1.  Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population.

Authors:  D Abeliovich; I P Lavon; I Lerer; T Cohen; C Springer; A Avital; G R Cutting
Journal:  Am J Hum Genet       Date:  1992-11       Impact factor: 11.025

2.  Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene.

Authors:  L Osborne; G Santis; M Schwarz; K Klinger; T Dörk; I McIntosh; M Schwartz; V Nunes; M Macek; J Reiss
Journal:  Hum Genet       Date:  1992-08       Impact factor: 4.132

3.  CFTR mutations in Chilean cystic fibrosis patients.

Authors:  J Rios; O Orellana; M Aspillaga; I Avendano; I Largo; N Riveros
Journal:  Hum Genet       Date:  1994-09       Impact factor: 4.132

4.  A family study describing second cousins with cystic fibrosis and no common ancestor who is a carrier.

Authors:  V M Park; M E Smith; M T Knight; M J Rock
Journal:  J Med Genet       Date:  1995-05       Impact factor: 6.318

5.  Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%.

Authors:  M Macek; A Mackova; A Hamosh; B C Hilman; R F Selden; G Lucotte; K J Friedman; M R Knowles; B J Rosenstein; G R Cutting
Journal:  Am J Hum Genet       Date:  1997-05       Impact factor: 11.025

6.  Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects and identification of three novel mutations.

Authors:  V Brancolini; L Cremonesi; E Belloni; E Pappalardo; R Bordoni; M Seia; S Russo; R Padoan; A Giunta; M Ferrari
Journal:  Hum Genet       Date:  1995-09       Impact factor: 4.132

7.  Myocardial fibrosis--a rare complication in patients with cystic fibrosis.

Authors:  W Wiebicke; A Artlich; I Gerling
Journal:  Eur J Pediatr       Date:  1993-08       Impact factor: 3.183

8.  Analysis of 160 CF chromosomes: detection of a novel mutation in exon 20.

Authors:  I Dorval; S Odent; P Jezequel; H Journel; B Chauvel; A Dabadie; M Roussey; J Y Le Gall; B Le Marec; V David
Journal:  Hum Genet       Date:  1993-04       Impact factor: 4.132

9.  Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians.

Authors:  G R Cutting; S M Curristin; E Nash; B J Rosenstein; I Lerer; D Abeliovich; A Hill; C Graham
Journal:  Am J Hum Genet       Date:  1992-06       Impact factor: 11.025

10.  Analysis of CFTR Gene Variants in Idiopathic Bronchiectasis in Serbian Children.

Authors:  Katarina Milosevic; Aleksandra Nikolic; Aleksandra Divac Rankov; Mila Ljujic; Branimir Nestorovic; Dragica Radojkovic
Journal:  Pediatr Allergy Immunol Pulmonol       Date:  2013-06       Impact factor: 1.349
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