Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Multipoint mapping of adult onset polycystic kidney disease (PKD1) on chromosome 16.

Literature DB >> 1404294

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

P M Pignatelli¹, S E Pound, A D Carothers, A M Macnicol, P L Allan, M L Watson, A F Wright.

Abstract

Analysis of genetic linkage data in 33 adult onset polycystic kidney (ADPKD) families was carried out using probes for the D16S85, D16S84, and D16S94 loci. The data set of 33 families shows no evidence of genetic heterogeneity since one unlinked family was previously excluded. Two point linkage analysis showed maximum likelihood values of the recombination fraction of 0.07 for ADPKD and D16S85 (lod score 18.78), 0.02 for ADPKD and D16S84 (lod score 7.55), and 0.00 for ADPKD and D16S94 (lod score 6.73). Multipoint analysis showed a maximum likelihood order of tel-D16S85-0.06-D16S84-0.02-(PKD1, D16S94)-cen with a multipoint lod score of 32.16. Analysis of rare recombinants lying close to PKD1 gave results consistent with this order.

Entities: Disease Gene

Mesh：

Substances：
Genetic Markers

Year: 1992 PMID： 1404294 PMCID： PMC1016095 DOI： 10.1136/jmg.29.9.638

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

22 in total

1. 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

2. A genetic linkage map of the human genome.

Authors: H Donis-Keller; P Green; C Helms; S Cartinhour; B Weiffenbach; K Stephens; T P Keith; D W Bowden; D R Smith; E S Lander
Journal: Cell Date: 1987-10-23 Impact factor: 41.582

3. A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity.

Authors: A P Feinberg; B Vogelstein
Journal: Anal Biochem Date: 1983-07-01 Impact factor: 3.365

4. Polycystic kidney disease and chronic hemodialysis.

Authors: A C Chester; W P Argy; T A Rakowski; G E Schreiner
Journal: Clin Nephrol Date: 1978-10 Impact factor: 0.975

5. Adult polycystic kidney disease: a review of 100 cases.

Authors: A J Segal; R F Spataro; Z L Barbaric
Journal: J Urol Date: 1977-11 Impact factor: 7.450

6. 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

7. CpG island in the region of an autosomal dominant polycystic kidney disease locus defines the 5' end of a gene encoding a putative proton channel.

Authors: G A Gillespie; S Somlo; G G Germino; D Weinstat-Saslow; S T Reeders
Journal: Proc Natl Acad Sci U S A Date: 1991-05-15 Impact factor: 11.205

8. Reversed polarity of Na(+) -K(+) -ATPase: mislocation to apical plasma membranes in polycystic kidney disease epithelia.

Authors: P D Wilson; A C Sherwood; K Palla; J Du; R Watson; J T Norman
Journal: Am J Physiol Date: 1991-03

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

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

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

2. A genetic linkage map of the human genome.

3. A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity.

4. Polycystic kidney disease and chronic hemodialysis.

5. Adult polycystic kidney disease: a review of 100 cases.

6. Linkage heterogeneity of autosomal dominant polycystic kidney disease.

7. CpG island in the region of an autosomal dominant polycystic kidney disease locus defines the 5' end of a gene encoding a putative proton channel.

8. Reversed polarity of Na(+) -K(+) -ATPase: mislocation to apical plasma membranes in polycystic kidney disease epithelia.

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

10. Molecular characterisation of a hypervariable region downstream of the human alpha-globin gene cluster.

1. Construction of a transgenic pig model overexpressing polycystic kidney disease 2 (PKD2) gene.

Review 2. Genetically modified pigs to model human diseases.

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

4. Haplotype analysis in autosomal dominant polycystic kidney disease.

5. PKD1 mono-allelic knockout is sufficient to trigger renal cystogenesis in a mini-pig model.

6. Identification of ADPKD-Related Genes and Pathways in Cells Overexpressing PKD2.