Related Experiment Video
Updated: Jan 6, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
[Analysis of a patient with early-onset Parkinson's disease and PARK7 gene variation]
Fei Xie1, Xiaosheng Zheng, Zhidong Cen
1Department of Neurology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310000, China. luoweirock@zju.edu.cn.
Objective:
To explore the genetic basis of a patient with early-onset Parkinson disease from a consanguineous family.
Methods:
Homozygosity mapping and Sanger sequencing of cDNA were used to identify the causative mutation.
Results:
A homozygous missense variation (c.56C>G, p.Thr19Arg) in the PARK7 gene was identified in the patient. In silico analysis suggested the c.56C>G variation to be pathogenic.
Conclusion:
Homozygous c.56C>G variation of the PARK7 gene was the disease-causing variation in this family.
More Related Videos
08:55Rab10 Phosphorylation Detection by LRRK2 Activity Using SDS-PAGE with a Phosphate-binding Tag
Published on: December 14, 2017
12:49Human Peripheral Blood Neutrophil Isolation for Interrogating the Parkinson's Associated LRRK2 Kinase Pathway by Assessing Rab10 Phosphorylation
Published on: March 21, 2020
Related Concept Videos
Parkinson's Disease: Overview
Neural Regulation
Parkinson's Disease: Treatment
Parkinson's Disease is primarily a result of the loss of dopaminergic neurons in the substantia nigra pars compacta. The cornerstone of...