Literature DB >> 2883106

Cystic fibrosis: typing 48 German families with linked DNA probes.

L Mathy, W Kampmann, M Higuchi, G Schwartenbeck, K Bartholomé, A J Driesel, K H Grzeschik, K Olek.   

Abstract

Two hundred and thirty five subjects from 48 German cystic fibrosis (CF) families were typed for restriction fragment length polymorphisms (RFLPs) detected by the probes pmet H, pmet D, and pJ 3.11, known to be tightly linked to the CF gene. Gene and haplotype frequencies suggest a linkage disequilibrium with the CF locus. The analysis of the predictive value of this typing in individual CF families indicates that the combined use of these probes provides a powerful diagnostic system both for carrier detection and prenatal diagnosis. In 33 out of 48 families carriers and non-carriers could be identified, and in 26 of these 33 families prenatal diagnosis could discriminate between affected and unaffected offspring.

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Year:  1987        PMID: 2883106     DOI: 10.1007/bf00284108

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  4 in total

1.  Regional mapping of six cloned DNA sequences on human chromosome 7.

Authors:  I Bartels; K H Grzeschik; D N Cooper; J Schmidtke
Journal:  Am J Hum Genet       Date:  1986-03       Impact factor: 11.025

2.  A closely linked genetic marker for cystic fibrosis.

Authors:  R White; S Woodward; M Leppert; P O'Connell; M Hoff; J Herbst; J M Lalouel; M Dean; G Vande Woude
Journal:  Nature       Date:  1985 Nov 28-Dec 4       Impact factor: 49.962

Review 3.  Construction of a genetic linkage map in man using restriction fragment length polymorphisms.

Authors:  D Botstein; R L White; M Skolnick; R W Davis
Journal:  Am J Hum Genet       Date:  1980-05       Impact factor: 11.025

4.  Localization of cystic fibrosis locus to human chromosome 7cen-q22.

Authors:  B J Wainwright; P J Scambler; J Schmidtke; E A Watson; H Y Law; M Farrall; H J Cooke; H Eiberg; R Williamson
Journal:  Nature       Date:  1985 Nov 28-Dec 4       Impact factor: 49.962

  4 in total
  6 in total

1.  Cystic fibrosis: typing 89 German families with linked DNA probes.

Authors:  J Weber; C Aulehla-Scholz; R Kaiser; A Eigel; M Neugebauer; J Horst; K Olek
Journal:  Hum Genet       Date:  1988-12       Impact factor: 4.132

2.  Genealogical analysis of cystic fibrosis families and chromosome 7q RFLP haplotypes in the Hutterite Brethren.

Authors:  T M Fujiwara; K Morgan; R H Schwartz; R A Doherty; S R Miller; K Klinger; P Stanislovitis; N Stuart; P C Watkins
Journal:  Am J Hum Genet       Date:  1989-03       Impact factor: 11.025

3.  Cystic fibrosis in Finland: a molecular and genealogical study.

Authors:  J Kere; R Norio; E Savilahti; X Estivill; A de la Chapelle
Journal:  Hum Genet       Date:  1989-08       Impact factor: 4.132

4.  Demand for DNA probe testing in three genetic centres in Britain (August 1986 to July 1987).

Authors:  R J Rona; A V Swan; R Beech; L Prentice; A Reynolds; O Wilson; G Mole; P Vadera
Journal:  J Med Genet       Date:  1989-04       Impact factor: 6.318

Review 5.  Genetic markers on chromosome 7.

Authors:  L C Tsui
Journal:  J Med Genet       Date:  1988-05       Impact factor: 6.318

6.  Marker haplotype association with growth in German cystic fibrosis patients.

Authors:  B Tümmler; A Aschendorff; T Darnedde; K Fryburg; G Maass; J Hundrieser
Journal:  Hum Genet       Date:  1990-02       Impact factor: 4.132

  6 in total

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