Literature DB >> 2890952

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

M H Breuning1, S T Reeders, H Brunner, J W Ijdo, J J Saris, A Verwest, G J van Ommen, P L Pearson.   

Abstract

A new polymorphic DNA marker for the diagnosis of autosomal dominant adult polycystic kidney disease (APKD) has been identified. The new marker, 24-1, flanks the APKD gene on the side opposite to the alpha globin on the short arm of chromosome 16. When both DNA polymorphisms bracketing the gene are informative the reliability of prenatal and presymptom diagnosis of polycystic kidney disease in non-recombinants (92% of cases) is more than 99%.

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Year:  1987        PMID： 2890952     DOI： 10.1016/s0140-6736(87)91256-6

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


  25 in total

1.  Adult polycystic kidney disease: knowledge, experience, and attitudes to prenatal diagnosis.

Authors:  K A Hodgkinson; L Kerzin-Storrar; E A Watters; R Harris
Journal:  J Med Genet       Date:  1990-09       Impact factor: 6.318

2.  Construction of a map of chromosome 16 by using radiation hybrids.

Authors:  I Ceccherini; G Romeo; S Lawrence; M H Breuning; P C Harris; H Himmelbauer; A M Frischauf; G R Sutherland; G G Germino; S T Reeders
Journal:  Proc Natl Acad Sci U S A       Date:  1992-01-01       Impact factor: 11.205

3.  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

4.  Defining DNA diagnostic tests appropriate or standard clinical care.

Authors:  R V Lebo; G Cunningham; M J Simons; L J Shapiro
Journal:  Am J Hum Genet       Date:  1990-09       Impact factor: 11.025

5.  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

6.  Map of 16 polymorphic loci on the short arm of chromosome 16 close to the polycystic kidney disease gene (PKD1).

Authors:  M H Breuning; F G Snijdewint; H Brunner; A Verwest; J W Ijdo; J J Saris; J G Dauwerse; L Blonden; T Keith; D F Callen
Journal:  J Med Genet       Date:  1990-10       Impact factor: 6.318

7.  Saturating the region of the polycystic kidney disease gene with NotI linking clones.

Authors:  H Himmelbauer; G G Germino; I Ceccherini; G Romeo; S T Reeders; A M Frischauf
Journal:  Am J Hum Genet       Date:  1991-02       Impact factor: 11.025

8.  Probe, VK5B, is located in the same interval as the autosomal dominant adult polycystic kidney disease locus, PKD1.

Authors:  V J Hyland; G K Suthers; K Friend; R N MacKinnon; D F Callen; M H Breuning; T Keith; V A Brown; P Phipps; G R Sutherland
Journal:  Hum Genet       Date:  1990-02       Impact factor: 4.132

9.  Polycystin: in vitro synthesis, in vivo tissue expression, and subcellular localization identifies a large membrane-associated protein.

Authors:  O Ibraghimov-Beskrovnaya; W R Dackowski; L Foggensteiner; N Coleman; S Thiru; L R Petry; T C Burn; T D Connors; T Van Raay; J Bradley; F Qian; L F Onuchic; T J Watnick; K Piontek; R M Hakim; G M Landes; G G Germino; R Sandford; K W Klinger
Journal:  Proc Natl Acad Sci U S A       Date:  1997-06-10       Impact factor: 11.205

10.  Diagnosis of adult polycystic kidney disease by genetic markers and ultrasonographic imaging in a voluntary family register.

Authors:  R G Elles; K A Hodgkinson; N P Mallick; D J O'Donoghue; A P Read; S Rimmer; E A Watters; R Harris
Journal:  J Med Genet       Date:  1994-02       Impact factor: 6.318
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