Literature DB >> 2443703

Adult polycystic kidney disease and linked RFLPs at the alpha globin locus: a genetic study in the South Wales population.

L P Lazarou1, F Davies, M Sarfarazi, G A Coles, P S Harper.   

Abstract

Thirteen South Wales kindreds with adult polycystic kidney disease have been studied for genetic linkage using the alpha globin and 3'HVR probes. A maximum lod score of 24.187 was found at a recombination fraction of 0.03. This study supports the existence of a single locus on chromosome 16 responsible for the disorder.

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Year:  1987        PMID： 2443703      PMCID： PMC1050203          DOI： 10.1136/jmg.24.8.466

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  13 in total

1.  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

2.  Analysis of the human alpha-globin gene cluster reveals a highly informative genetic locus.

Authors:  D R Higgs; J S Wainscoat; J Flint; A V Hill; S L Thein; R D Nicholls; H Teal; H Ayyub; T E Peto; A G Falusi
Journal:  Proc Natl Acad Sci U S A       Date:  1986-07       Impact factor: 11.205

3.  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

4.  Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.

Authors:  J Ott
Journal:  Am J Hum Genet       Date:  1974-09       Impact factor: 11.025

5.  Highly variable regions of DNA flank the human alpha globin genes.

Authors:  D R Higgs; S E Goodbourn; J S Wainscoat; J B Clegg; D J Weatherall
Journal:  Nucleic Acids Res       Date:  1981-09-11       Impact factor: 16.971

6.  Polycystic kidney disease.

Authors:  W N Suki
Journal:  Kidney Int       Date:  1982-11       Impact factor: 10.612

7.  Potential causes and pathogenesis in autosomal dominant polycystic kidney disease.

Authors:  J Milutinovic; L Y Agodoa
Journal:  Nephron       Date:  1983       Impact factor: 2.847

8.  Prognosis of adult onset polycystic kidney disease re-evaluated.

Authors:  D N Churchill; J C Bear; J Morgan; R H Payne; P J McManamon; M H Gault
Journal:  Kidney Int       Date:  1984-08       Impact factor: 10.612

9.  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

10.  Cystic kidneys. Genetics, pathologic anatomy, clinical picture, and prenatal diagnosis.

Authors:  K Zerres; M C Völpel; H Weiss
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132
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  9 in total

1.  Adult polycystic kidney disease in a kindred of West Indian origin exhibits linkage with the 3'HVR probe on chromosome 16.

Authors:  S Jeffery; A J Wing; M Patton
Journal:  J Med Genet       Date:  1991-05       Impact factor: 6.318

2.  Recombination or heterogeneity: is there a second locus for adult polycystic kidney disease?

Authors:  R G Elles; A P Read; K A Hodgkinson; A Watters; R Harris
Journal:  J Med Genet       Date:  1990-07       Impact factor: 6.318

3.  Adult polycystic kidney disease.

Authors:  R Harris
Journal:  J Med Genet       Date:  1987-08       Impact factor: 6.318

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

Authors:  S Kumar; W J Kimberling; P A Gabow; J B Kenyon
Journal:  Hum Genet       Date:  1991-06       Impact factor: 4.132

5.  Alpha thalassaemia: a potential source of error in DNA linkage studies for adult polycystic kidney disease.

Authors:  R J Trent; R C Wallace
Journal:  J Med Genet       Date:  1989-01       Impact factor: 6.318

6.  Molecular genetic diagnosis of autosomal dominant polycystic kidney disease in a newborn with bilateral cystic kidneys detected prenatally and multiple skeletal malformations.

Authors:  A E Turco; E M Padovani; G P Chiaffoni; B Peissel; S Rossetti; A Marcolongo; L Gammaro; G Maschio; P F Pignatti
Journal:  J Med Genet       Date:  1993-05       Impact factor: 6.318

7.  Multipoint mapping of adult onset polycystic kidney disease (PKD1) on chromosome 16.

Authors:  P M Pignatelli; S E Pound; A D Carothers; A M Macnicol; P L Allan; M L Watson; A F Wright
Journal:  J Med Genet       Date:  1992-09       Impact factor: 6.318

8.  Autosomal dominant polycystic kidney disease and alpha -4.2 thalassemia in a Caucasian family.

Authors:  M C Vinet; C Dodé; O Pascal; N Monnier; J Rochette; L Bachner
Journal:  Hum Genet       Date:  1989-08       Impact factor: 4.132

9.  Linkage study of a large family with autosomal dominant polycystic kidney disease with reduced expression. Absence of linkage to the PKD 1 locus.

Authors:  L Bachner; M C Vinet; R Lacave; M C Babron; E Rondeau; J D Sraer; D Chevet; J C Kaplan
Journal:  Hum Genet       Date:  1990-07       Impact factor: 4.132
  9 in total

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