Related Experiment Video
Updated: Dec 30, 2025
Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease
Published on: February 3, 2012
Next-generation sequencing for detection of somatic mosaicism in autosomal dominant polycystic kidney disease
1Department of Physiology, Mechanisms of Inherited Kidney Diseases Group, University of Zurich, Zurich, Switzerland; Division of Nephrology, UCLouvain Medical School, Brussels, Belgium.
Abstract:
Mosaicism is defined as the presence of 2 genetically different populations of cells in a single organism, resulting from a mutation during early embryogenesis. Hopp et al. characterized mosaicism in 20 unresolved ADPKD families, using next-generation sequencing techniques with DNA isolated from blood cells. Mosaicism may be involved in 1% of ADPKD families, and it may explain some atypical disease phenotypes.
More Related Videos
05:58Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
Published on: August 20, 2018
07:17Author Spotlight: Advancing the Detection of Low-Frequency Mutations in Cancer Tissues
Published on: August 23, 2024