Literature DB >> 1380486

Multiplex PCR amplification of three microsatellites within the CFTR gene.

N Morral1, X Estivill.   

Abstract

Multiplex PCR amplification has been developed for three highly polymorphic microsatellites (IVS8CA, IVS17BTA, and IVS17BCA) located in intronic regions of the CFTR (cystic fibrosis (CF) transmembrane conductance regulator) gene. The triplex PCR reaction required different concentrations of each pair of primers and labeling of primers in the same reaction. Total informativity is obtained in 90.25% of couples requiring analysis of polymorphisms, and when triplex microsatellite analysis is combined with analysis for the six most common CF mutations in the Spanish population, informativity reaches more than 99%.

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Year:  1992        PMID: 1380486     DOI: 10.1016/0888-7543(92)90071-y

Source DB:  PubMed          Journal:  Genomics        ISSN: 0888-7543            Impact factor:   5.736


  18 in total

1.  CFTR mutation analysis and haplotype associations in CF patients.

Authors:  S K Cordovado; M Hendrix; C N Greene; S Mochal; M C Earley; P M Farrell; M Kharrazi; W H Hannon; P W Mueller
Journal:  Mol Genet Metab       Date:  2011-10-26       Impact factor: 4.797

2.  Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations.

Authors:  Els Dequeker; Manfred Stuhrmann; Michael A Morris; Teresa Casals; Carlo Castellani; Mireille Claustres; Harry Cuppens; Marie des Georges; Claude Ferec; Milan Macek; Pier-Franco Pignatti; Hans Scheffer; Marianne Schwartz; Michal Witt; Martin Schwarz; Emmanuelle Girodon
Journal:  Eur J Hum Genet       Date:  2008-08-06       Impact factor: 4.246

3.  DNA typing from human faeces.

Authors:  A J Hopwood; A Mannucci; K M Sullivan
Journal:  Int J Legal Med       Date:  1996       Impact factor: 2.686

4.  Genotype-phenotype relationship in 12 patients carrying cystic fibrosis mutation R334W.

Authors:  G Antiñolo; S Borrego; M Gili; J Dapena; I Alfageme; F Reina
Journal:  J Med Genet       Date:  1997-02       Impact factor: 6.318

5.  Worldwide genetic analysis of the CFTR region.

Authors:  E Mateu; F Calafell; O Lao; B Bonné-Tamir; J R Kidd; A Pakstis; K K Kidd; J Bertranpetit
Journal:  Am J Hum Genet       Date:  2000-12-04       Impact factor: 11.025

6.  Genetic variation of microsatellite markers D1S117, D6S89, D11S35, APOC2, and D21S168 in the Spanish population.

Authors:  J J Fuentes; I Banchs; V Volpini; X Estivill
Journal:  Int J Legal Med       Date:  1993       Impact factor: 2.686

Review 7.  Single gene disorders affecting the gastrointestinal tract.

Authors:  G R Taylor; S M Farmery
Journal:  Gut       Date:  1993-04       Impact factor: 23.059

8.  The validation of short tandem repeat (STR) loci for use in forensic casework.

Authors:  J E Lygo; P E Johnson; D J Holdaway; S Woodroffe; J P Whitaker; T M Clayton; C P Kimpton; P Gill
Journal:  Int J Legal Med       Date:  1994       Impact factor: 2.686

9.  The gene for congenital chloride diarrhea maps close to but is distinct from the gene for cystic fibrosis transmembrane conductance regulator.

Authors:  J Kere; P Sistonen; C Holmberg; A de la Chapelle
Journal:  Proc Natl Acad Sci U S A       Date:  1993-11-15       Impact factor: 11.205

10.  Cystic fibrosis in a low-incidence population: two major mutations in Finland.

Authors:  J Kere; X Estivill; M Chillón; N Morral; V Nunes; R Norio; E Savilahti; A de la Chapelle
Journal:  Hum Genet       Date:  1994-02       Impact factor: 4.132

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