Literature DB >> 8340115

Icelandic families with autosomal dominant polycystic kidney disease: families unlinked to chromosome 16p13.3 revealed by linkage analysis.

R Fossdal1, M Böthvarsson, P Asmundsson, J Ragnarsson, D Peters, M H Breuning, O Jensson.   

Abstract

We have mainly used 3 highly polymorphic DNA markers, 3'HVR (D16S85), 16AC2.5 (D16S291) and SM7 (D16S283), flanking the PKD1 region on chromosome 16p13.3 to establish linkage status in seven Icelandic families with autosomal dominant polycystic kidney disease (ADPKD). In four families, the disease locus is in the PKD1 region, and three families are "unlinked" to chromosome 16p13.3. In one of the "unlinked" families, the disease locus is excluded from a part of the long arm of chromosome 2, and we support a theory of more than 2 loci being responsible for ADPKD. Our data confirm the location of the locus YNH24 (D2S44) to chromosome 2q13-q24.

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Year:  1993        PMID： 8340115     DOI： 10.1007/bf00205089

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


  31 in total

Review 1.  Autosomal dominant polycystic kidney disease--more than a renal disease.

Authors:  P A Gabow
Journal:  Am J Kidney Dis       Date:  1990-11       Impact factor: 8.860

2.  Genetic heterogeneity of polycystic kidney disease in Europe.

Authors:  D J Peters; L A Sandkuijl
Journal:  Contrib Nephrol       Date:  1992       Impact factor: 1.580

3.  Isolation and characterisation of (AC)n microsatellite genetic markers from human chromosome 16.

Authors:  A D Thompson; Y Shen; K Holman; G R Sutherland; D F Callen; R I Richards
Journal:  Genomics       Date:  1992-06       Impact factor: 5.736

4.  Dinucleotide repeat polymorphism at the human MHC class I CD8 alpha-chain (Leu-2/T8) gene.

Authors:  M H Polymeropoulos; H Xiao; D S Rath; C R Merril
Journal:  Nucleic Acids Res       Date:  1991-04-11       Impact factor: 16.971

5.  Isolation and mapping of a polymorphic DNA sequence pYNH24 on chromosome 2 (D2S44).

Authors:  Y Nakamura; S Gillilan; P O'Connell; M Leppert; G M Lathrop; J M Lalouel; R White
Journal:  Nucleic Acids Res       Date:  1987-12-10       Impact factor: 16.971

6.  Polymorphic DNA region adjacent to the 5' end of the human insulin gene.

Authors:  G I Bell; J H Karam; W J Rutter
Journal:  Proc Natl Acad Sci U S A       Date:  1981-09       Impact factor: 11.205

7.  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

8.  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

9.  Improved early diagnosis of adult polycystic kidney disease with flanking DNA markers.

Authors:  M H Breuning; S T Reeders; H Brunner; J W Ijdo; J J Saris; A Verwest; G J van Ommen; P L Pearson
Journal:  Lancet       Date:  1987-12-12       Impact factor: 79.321

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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  6 in total

1.  A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2).

Authors:  B Veldhuisen; J J Saris; S de Haij; T Hayashi; D M Reynolds; T Mochizuki; R Elles; R Fossdal; N Bogdanova; M A van Dijk; E Coto; D Ravine; S Nørby; C Verellen-Dumoulin; M H Breuning; S Somlo; D J Peters
Journal:  Am J Hum Genet       Date:  1997-09       Impact factor: 11.025

2.  Genetic heterogeneity of polycystic kidney disease in Bulgaria.

Authors:  N Bogdanova; B Dworniczak; D Dragova; V Todorov; D Dimitrakov; K Kalinov; J Hallmayer; J Horst; L Kalaydjieva
Journal:  Hum Genet       Date:  1995-06       Impact factor: 4.132

3.  Identification and localization of polycystin, the PKD1 gene product.

Authors:  L Geng; Y Segal; B Peissel; N Deng; Y Pei; F Carone; H G Rennke; A M Glücksmann-Kuis; M C Schneider; M Ericsson; S T Reeders; J Zhou
Journal:  J Clin Invest       Date:  1996-12-15       Impact factor: 14.808

4.  Characterization and cell distribution of polycystin, the product of autosomal dominant polycystic kidney disease gene 1.

Authors:  R Palsson; C P Sharma; K Kim; M McLaughlin; D Brown; M A Arnaout
Journal:  Mol Med       Date:  1996-11       Impact factor: 6.354

5.  Genetic heterogeneity in adult dominant polycystic kidney disease in Cypriot families.

Authors:  C D Constantinou-Deltas; E Papageorgiou; K Boteva; K Christodoulou; M H Breuning; D J Peter; A Pierides
Journal:  Hum Genet       Date:  1995-04       Impact factor: 4.132

6.  Refining the localization of the PKD2 locus on chromosome 4q by linkage analysis in Spanish families with autosomal dominant polycystic kidney disease type 2.

Authors:  J L San Millán; M Viribay; B Peral; I Martínez; J Weissenbach; F Moreno
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025
  6 in total

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