Literature DB >> 3467589

Homogeneity of cystic fibrosis in Italy.

E Vitale, M Devoto, G Mastella, G Romeo.   

Abstract

In 12 unrelated Italian cystic fibrosis (CF) families the frequencies of four DNA polymorphisms closely linked to the CF gene on chromosome 7 were quite similar to those reported for other population samples. Among the 23 affected children from the 12 families, only one recombinant occurred between the CF gene and the met locus, thus confirming the hypothesis of genetic homogeneity of CF previously suggested by the analysis of consanguineous marriages among 624 couples of CF parents. Chi-square test of association indicates a possible linkage disequilibrium between the CF gene and the DNA polymorphism that is most informative in our sample (pmetH TaqI).

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Year:  1986        PMID: 3467589      PMCID: PMC1684116     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN: 0002-9297            Impact factor:   11.025


  14 in total

1.  A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis.

Authors:  L E GIBSON; R E COOKE
Journal:  Pediatrics       Date:  1959-03       Impact factor: 7.124

2.  An estimate of unique DNA sequence heterozygosity in the human genome.

Authors:  D N Cooper; B A Smith; H J Cooke; S Niemann; J Schmidtke
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

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.  Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants.

Authors:  L M Kunkel; K D Smith; S H Boyer; D S Borgaonkar; S S Wachtel; O J Miller; W R Breg; H W Jones; J M Rary
Journal:  Proc Natl Acad Sci U S A       Date:  1977-03       Impact factor: 11.205

5.  Incidence in Italy, genetic heterogeneity, and segregation analysis of cystic fibrosis.

Authors:  G Romeo; M Bianco; M Devoto; P Menozzi; G Mastella; A M Giunta; C Micalizzi; M Antonelli; A Battistini; F Santamaria
Journal:  Am J Hum Genet       Date:  1985-03       Impact factor: 11.025

6.  Linkage analysis and family classification under heterogeneity.

Authors:  J Ott
Journal:  Ann Hum Genet       Date:  1983-10       Impact factor: 1.670

7.  Genomic sequencing.

Authors:  G M Church; W Gilbert
Journal:  Proc Natl Acad Sci U S A       Date:  1984-04       Impact factor: 11.205

8.  Easy calculations of lod scores and genetic risks on small computers.

Authors:  G M Lathrop; J M Lalouel
Journal:  Am J Hum Genet       Date:  1984-03       Impact factor: 11.025

9.  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

10.  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

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  3 in total

1.  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

2.  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

Review 3.  Genetic markers on chromosome 7.

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

  3 in total

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