Related Experiment Video
Updated: Feb 3, 2026
Purification of High Molecular Weight Genomic DNA from Powdery Mildew for Long-Read Sequencing
Published on: March 31, 2017
Molecular characterization of PRKN structural variations identified through whole-genome sequencing
Paloma Bravo1, Hossein Darvish2, Abbas Tafakhori3
1Department of Neurology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, New York.
Background:
Early-onset Parkinson's disease (PD) is the most common inherited form of parkinsonism, with the PRKN gene being the most frequently identified mutated. Exon rearrangements, identified in about 43.2% of the reported PD patients and with higher frequency in specific ethnicities, are the most prevalent PRKN mutations reported to date in PD patients.
Methods:
In this study, three consanguineous families with early-onset PD were subjected to whole-genome sequencing (WGS) analyses that were followed by Sanger sequencing and droplet digital PCR to validate and confirm the disease segregation of the identified genomic variations and to determine their parental origin.
Results:
Five different PRKN structural variations (SVs) were identified. Because the genomic sequences surrounding the break points of the identified SVs might hold important information about their genesis, these were also characterized for the presence of homology and repeated sequences.
Conclusion:
We concluded that all identified PRKN SVs might originate through retrotransposition events.
Related Concept Videos
02:02Genomics
02:53Conservative Site-specific Recombination and Phase Variation
The recognition sites for Cre recombinase called LoxP...
02:34Molecular Structure and Acidity
The size effect explains the change in atomic size on acidity. When comparing the acids formed from elements that belong to the same column in the periodic table, their atomic sizes...
02:54Lewis Structures of Molecular Compounds and Polyatomic Ions
01:26Size and Structure of Viral Genomes
03:05Acid Strength and Molecular Structure
In the absence of any leveling effect, the acid strength of binary compounds of hydrogen with nonmetals (A) increases as the H-A bond strength decreases down a group in the periodic table. For group 17, the order of increasing acidity is HF < HCl < HBr < HI. Likewise, for group 16, the order of increasing acid strength is H2O < H2S < H2Se < H2Te. Across a row in the periodic table, the acid strength of binary hydrogen compounds increases with increasing...