Literature DB >> 8037213

Linkage disequilibrium in the region of the autosomal dominant polycystic kidney disease gene (PKD1).

A Snarey1, S Thomas, M C Schneider, S E Pound, N Barton, A F Wright, S Somlo, G G Germino, P C Harris, S T Reeders.   

Abstract

The gene for autosomal dominant polycystic kidney disease (PKD1) is located on chromosome 16p, between the flanking markers D16S84 and D16S125 (26.6prox). This region is 750 kb long and has been cloned. We have looked at the association of 10 polymorphic markers from the region, with the disease and with each other. This was done in a set of Scottish families that had previously shown association with D16S94, a marker proximal to the PKD1 region. We report significant association between two CA repeat markers and the disease but have not found evidence for a single founder haplotype in these families, indicating the presence of several mutations in this population. Our results favor a location of the PKD1 gene in the proximal part of the candidate region.

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Year:  1994        PMID： 8037213      PMCID： PMC1918359     

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


  23 in total

1.  Fine genetic localization of the gene for autosomal dominant polycystic kidney disease (PKD1) with respect to physically mapped markers.

Authors:  S Somlo; B Wirth; G G Germino; D Weinstat-Saslow; G A Gillespie; H Himmelbauer; L Steevens; P Coucke; P Willems; L Bachner
Journal:  Genomics       Date:  1992-05       Impact factor: 5.736

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.  Genetic heterogeneity of polycystic kidney disease in Europe.

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

4.  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

5.  The gene for autosomal dominant polycystic kidney disease lies in a 750-kb CpG-rich region.

Authors:  G G Germino; D Weinstat-Saslow; H Himmelbauer; G A Gillespie; S Somlo; B Wirth; N Barton; K L Harris; A M Frischauf; S T Reeders
Journal:  Genomics       Date:  1992-05       Impact factor: 5.736

6.  A TaqI polymorphism identified by 26-6 (D16S125) proximal to the locus affecting adult polycystic kidney disease (PKD1) on chromosome 16.

Authors:  M H Breuning; F G Snijdewint; J R Smits; J G Dauwerse; J J Saris; G J van Ommen
Journal:  Nucleic Acids Res       Date:  1990-05-25       Impact factor: 16.971

7.  Identification of a locus which shows no genetic recombination with the autosomal dominant polycystic kidney disease gene on chromosome 16.

Authors:  G G Germino; N J Barton; J Lamb; D R Higgs; P Harris; G H Xiao; G Scherer; Y Nakamura; S T Reeders
Journal:  Am J Hum Genet       Date:  1990-05       Impact factor: 11.025

8.  Polycystic kidney disease re-evaluated: a population-based study.

Authors:  F Davies; G A Coles; P S Harper; A J Williams; C Evans; D Cochlin
Journal:  Q J Med       Date:  1991-06

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 study of genetic linkage heterogeneity in 35 adult-onset polycystic kidney disease families.

Authors:  A F Wright; P W Teague; S E Pound; P M Pignatelli; A M Macnicol; A D Carothers; R J De Mey; P L Allan; M L Watson
Journal:  Hum Genet       Date:  1993-01       Impact factor: 4.132
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  10 in total

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Authors:  K S Au; A A Hebert; E S Roach; H Northrup
Journal:  Am J Hum Genet       Date:  1999-12       Impact factor: 11.025

2.  Mutation detection in the repeated part of the PKD1 gene.

Authors:  J H Roelfsema; L Spruit; J J Saris; P Chang; Y Pirson; G J van Ommen; D J Peters; M H Breuning
Journal:  Am J Hum Genet       Date:  1997-11       Impact factor: 11.025

3.  Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach.

Authors:  B Peral; V Gamble; C Strong; A C Ong; J Sloane-Stanley; K Zerres; C G Winearls; P C Harris
Journal:  Am J Hum Genet       Date:  1997-06       Impact factor: 11.025

4.  Preferential localization of the limb-girdle muscular dystrophy type 2A gene in the proximal part of a 1-cM 15q15.1-q15.3 interval.

Authors:  V Allamand; O Broux; I Richard; F Fougerousse; N Chiannilkulchai; N Bourg; L Brenguier; C Devaud; P Pasturaud; A Pereira de Souza
Journal:  Am J Hum Genet       Date:  1995-06       Impact factor: 11.025

5.  Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions.

Authors:  E P Henske; B W Scheithauer; M P Short; R Wollmann; J Nahmias; N Hornigold; M van Slegtenhorst; C T Welsh; D J Kwiatkowski
Journal:  Am J Hum Genet       Date:  1996-08       Impact factor: 11.025

6.  Loss of the polycystic kidney disease (PKD1) region of chromosome 16p13 in renal cyst cells supports a loss-of-function model for cyst pathogenesis.

Authors:  J L Brasier; E P Henske
Journal:  J Clin Invest       Date:  1997-01-15       Impact factor: 14.808

7.  Evidence that lymphangiomyomatosis is caused by TSC2 mutations: chromosome 16p13 loss of heterozygosity in angiomyolipomas and lymph nodes from women with lymphangiomyomatosis.

Authors:  T A Smolarek; L L Wessner; F X McCormack; J C Mylet; A G Menon; E P Henske
Journal:  Am J Hum Genet       Date:  1998-04       Impact factor: 11.025

8.  Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations.

Authors:  B Peral; J L San Millán; A C Ong; V Gamble; C J Ward; C Strong; P C Harris
Journal:  Am J Hum Genet       Date:  1996-01       Impact factor: 11.025

9.  Mesenchymal Tumorigenesis Driven by TSC2 Haploinsufficiency Requires HMGA2 and Is Independent of mTOR Pathway Activation.

Authors:  Jeanine D'Armiento; Takayuki Shiomi; Sarah Marks; Patrick Geraghty; Devipriya Sankarasharma; Kiran Chada
Journal:  Cancer Res       Date:  2016-02-02       Impact factor: 12.701

10.  Haplotype analysis in autosomal dominant polycystic kidney disease.

Authors:  S E Pound; S Thomas; A Snarey; A M Macnicol; M L Watson; P M Pignatelli; A M Frischauf; P C Harris; A F Wright
Journal:  J Med Genet       Date:  1995-03       Impact factor: 6.318
  10 in total

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