The autosomal dominant form of polycystic kidney disease (ADPKD) has been linked to the alpha-globin gene locus on 16p. Linkage studies between the autosomal recessive type (ARPKD) and the 3' HVR of the alpha-globin gene cluster showed that the ARPKD and ADPKD are not allelic.
Autosomal recessive and dominant forms of polycystic kidney disease are not allelic
✍ Scribed by Brunhilde Wirth; K. Zerres; M. Fischbach; Dorothea Claus; H. P. H. Neumann; T. Lennert; J. Brodehl; M. Neugebauer; D. E. Müller-Wiefel; J. Geisert; A. Gal
- Publisher
- Springer
- Year
- 1987
- Tongue
- English
- Weight
- 169 KB
- Volume
- 77
- Category
- Article
- ISSN
- 0340-6717
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✦ Synopsis
Linkage analysis has been carried out in 11 kindreds with autosomal recessive polycystic kidney disease (ARPKD) using the genetic marker 3'HVR, closely linked (theta = 0.05) to the gene of the autosomal dominant type. Close linkage (theta less than or equal to 0.20) between the locus of the marker and that of ARPKD can be excluded. These data strongly suggest that the loci for the autosomal recessive and dominant forms of polycystic kidney disease are not allelic.
📜 SIMILAR VOLUMES
The results of classical segregation analysis on 159 families with polycystic kidney disease (PKD) are presented. It had been previously estimated that about 95% of autosomal dominant PDK (ADPKD) families have PKD 1, the gene localized to chromosome 16p. The main purpose of the study was to determin
Multiple, bilateral seminal vesicle cysts were found in a young man by transabdominal sonography. Examination of the kidneys disclosed previously unknown autosomal dominant polycystic kidney disease. This case report draws attention to the rare association between these 2 conditions.
## Paalman Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic renal disorder (incidence, 1:1,000). The mutation of PKD1 is thought to account for 85% of ADPKD. Although a considerable number of studies on PKD1 mutation have been published recently, most of them concern Caucasi