Literature DB >> 3786136

Genetic homogeneity of cystic fibrosis.

K Klinger, P Stanislovitis, N Hoffman, P C Watkins, R Schwartz, R Doherty, P Scambler, M Farrall, R Williamson, B Wainwright.   

Abstract

We studied large Amish/Mennonite/Hutterite kindreds that segregate cystic fibrosis (CF) for linkage between CF and the polymorphic DNA markers pJ3.11 and 7C22 located on chromosome 7. These inbred pedigrees consist of more than 300 members including 30 affected individuals. In these families, linkage between the CF locus and the chromosome 21 marker D21S5 and between CF and the marker at the met oncogene locus on chromosome 7 had been previously indicated. We now report linkage between CF and pJ3.11 (Z = 4.92, theta = 0) and between CF and 7C22 (Z = 3.42, theta = 0). Therefore, CF segregates in these large pedigrees in a manner consistent with data from smaller outbred families with respect to the markers on chromosome 7 closest to CF. These data are consistent with locus homogeneity for the defect causing CF in the populations that have been examined to date.

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Year:  1986        PMID: 3786136      PMCID: PMC311886          DOI: 10.1093/nar/14.21.8681

Source DB:  PubMed          Journal:  Nucleic Acids Res        ISSN: 0305-1048            Impact factor:   16.971


  15 in total

1.  On the Incidence of Cystic Fibrosis of the Pancreas.

Authors:  A G Steinberg; D C Brown
Journal:  Am J Hum Genet       Date:  1960-12       Impact factor: 11.025

2.  Labeling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase I.

Authors:  P W Rigby; M Dieckmann; C Rhodes; P Berg
Journal:  J Mol Biol       Date:  1977-06-15       Impact factor: 5.469

3.  A polymorphic DNA marker linked to cystic fibrosis is located on chromosome 7.

Authors:  R G Knowlton; O Cohen-Haguenauer; N Van Cong; J Frézal; V A Brown; D Barker; J C Braman; J W Schumm; L C Tsui; M Buchwald
Journal:  Nature       Date:  1985 Nov 28-Dec 4       Impact factor: 49.962

4.  Report of the Committee on Methods of Linkage Analysis and Reporting.

Authors:  P M Conneally; J H Edwards; K K Kidd; J M Lalouel; N E Morton; J Ott; R White
Journal:  Cytogenet Cell Genet       Date:  1985

5.  Genetic studies on cystic fibrosis in Hawaii.

Authors:  S W Wright; N E Morton
Journal:  Am J Hum Genet       Date:  1968-03       Impact factor: 11.025

6.  Isolation of a further anonymous informative DNA sequence from chromosome seven closely linked to cystic fibrosis.

Authors:  P J Scambler; B J Wainwright; E Watson; G Bates; G Bell; R Williamson; M Farrall
Journal:  Nucleic Acids Res       Date:  1986-03-11       Impact factor: 16.971

7.  Comments on the possible existence and nature of a heterozygote advantage in cystic fibrosis.

Authors:  C M Anderson; J Allan; P G Johansen
Journal:  Bibl Paediatr       Date:  1967

8.  Strategies for multilocus linkage analysis in humans.

Authors:  G M Lathrop; J M Lalouel; C Julier; J Ott
Journal:  Proc Natl Acad Sci U S A       Date:  1984-06       Impact factor: 11.205

9.  Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker.

Authors:  L C Tsui; M Buchwald; D Barker; J C Braman; R Knowlton; J W Schumm; H Eiberg; J Mohr; D Kennedy; N Plavsic
Journal:  Science       Date:  1985-11-29       Impact factor: 47.728

10.  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

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  9 in total

1.  Attitudes toward genetic testing of Amish, Mennonite, and Hutterite families with cystic fibrosis.

Authors:  S R Miller; R H Schwartz
Journal:  Am J Public Health       Date:  1992-02       Impact factor: 9.308

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.  A test of the heterozygote-advantage hypothesis in cystic fibrosis carriers.

Authors:  L B Jorde; G M Lathrop
Journal:  Am J Hum Genet       Date:  1988-06       Impact factor: 11.025

4.  Physical and genetic analysis of cosmids from the vicinity of the cystic fibrosis locus.

Authors:  P J Scambler; X Estivill; G Bell; M Farrall; C McLean; R Newman; P F Little; P Frederick; K Hawley; B J Wainwright
Journal:  Nucleic Acids Res       Date:  1987-05-11       Impact factor: 16.971

5.  Crossovers in two German cystic fibrosis families determine probe order for MET, 7C22 and XV-2c/CS.7.

Authors:  W Berger; J Hein; J Gedschold; I Bauer; A Speer; M Farrall; R Williamson; C Coutelle
Journal:  Hum Genet       Date:  1987-10       Impact factor: 4.132

Review 6.  Diagnosis of genetic disease using recombinant DNA. Supplement.

Authors:  D N Cooper; J Schmidtke
Journal:  Hum Genet       Date:  1987-09       Impact factor: 4.132

7.  Plasminogen activator inhibitor type 1 gene is located at region q21.3-q22 of chromosome 7 and genetically linked with cystic fibrosis.

Authors:  K W Klinger; R Winqvist; A Riccio; P A Andreasen; R Sartorio; L S Nielsen; N Stuart; P Stanislovitis; P Watkins; R Douglas
Journal:  Proc Natl Acad Sci U S A       Date:  1987-12       Impact factor: 11.205

Review 8.  Systems biology approaches to investigating the roles of extracellular vesicles in human diseases.

Authors:  András Gézsi; Árpád Kovács; Tamás Visnovitz; Edit I Buzás
Journal:  Exp Mol Med       Date:  2019-03-15       Impact factor: 8.718

Review 9.  Incorporate gene signature profiling into routine molecular testing.

Authors:  Neng Chen
Journal:  Appl Transl Genom       Date:  2013-04-11
  9 in total

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