Literature DB >> 1676697

Genetic linkage studies of autosomal dominant polycystic kidney disease: search for the second gene in a large Sicilian family.

S Kumar1, W J Kimberling, P A Gabow, J B Kenyon.   

Abstract

Polycystic kidney disease (PKD) is a common autosomal dominant genetic disorder caused by mutation in at least two different gene loci. The PKD1 gene has been localized on the short arm of chromosome 16. The location of a second genetic locus in the human genome is not yet known. A large PKD kindred, unlinked to chromosome 16, with over 250 members was studied using both DNA and classical markers. In total, 29 informative marker loci on 11 autosomes have been analyzed for linkage with PKD. The data significantly exclude the linkage with disease locus from 17 marker loci and show no evidence of close linkage with the other loci.

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Year:  1991        PMID： 1676697     DOI： 10.1007/bf00204167

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


  30 in total

1.  GENETICAL STUDIES ON HUMAN RED CELL ACID PHOSPHATASE.

Authors:  D A HOPKINSON; N SPENCER; H HARRIS
Journal:  Am J Hum Genet       Date:  1964-03       Impact factor: 11.025

2.  Bilateral polycystic disease of the kidneys; a follow-up of two hundred and eighty-four patients and their families.

Authors:  O Z DALGAARD
Journal:  Acta Med Scand Suppl       Date:  1957

3.  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

4.  Human red glyoxalase I polymorphism in the Swiss population: phenotype frequencies and a simplified technique.

Authors:  R Pflugshaupt; R Scherz; R Bütler
Journal:  Hum Hered       Date:  1978       Impact factor: 0.444

5.  Linkage heterogeneity of autosomal dominant polycystic kidney disease.

Authors:  W J Kimberling; P R Fain; J B Kenyon; D Goldgar; E Sujansky; P A Gabow
Journal:  N Engl J Med       Date:  1988-10-06       Impact factor: 91.245

6.  Autosomal dominant polycystic kidney disease: presentation, complications, and prognosis.

Authors:  V B Delaney; S Adler; F J Bruns; M Licinia; D P Segel; D S Fraley
Journal:  Am J Kidney Dis       Date:  1985-02       Impact factor: 8.860

7.  A study of genetic linkage heterogeneity in adult polycystic kidney disease.

Authors:  S T Reeders; M H Breuning; M A Ryynanen; A F Wright; K E Davies; A W King; M L Watson; D J Weatherall
Journal:  Hum Genet       Date:  1987-08       Impact factor: 4.132

8.  Cyst formation and growth in autosomal dominant polycystic kidney disease.

Authors:  J J Grantham; J L Geiser; A P Evan
Journal:  Kidney Int       Date:  1987-05       Impact factor: 10.612

9.  Age at clinical onset and at ultrasonographic detection of adult polycystic kidney disease: data for genetic counselling.

Authors:  J C Bear; P McManamon; J Morgan; R H Payne; H Lewis; M H Gault; D N Churchill
Journal:  Am J Med Genet       Date:  1984-05

10.  A second genetic locus for autosomal dominant polycystic kidney disease.

Authors:  G Romeo; M Devoto; G Costa; L Roncuzzi; L Catizone; P Zucchelli; G G Germino; T Keith; D J Weatherall; S T Reeders
Journal:  Lancet       Date:  1988-07-02       Impact factor: 79.321
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