Related Experiment Video
Updated: Aug 3, 2026
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
[Identification of a novel missense mutation in Wilson disease gene]
Objective:
To investigate the allelic heterogeneity of ATP 7 B gene in Chinese patients.
Methods:
Exons of ATP7B gene from patient's DNA were amplified with PCR technique. Mutations were screened by single strand conformation polymorphism (SSCP) analysis and further confirmed by sequencing.
Results:
The molecular structure of exon 7 of the ATP7B gene from 141 WD patients was preliminarily analyzed. A similar band shift of 4 encephalopathy type patients was identified with SSCP and sequencing. There was a missense mutation, Ser 662 Cys, which was caused by a C to G transversion at the second base of the codon.
Conclusions:
The mutations of Chinese ATP7B gene were investigated for the first time in China and a novel missense mutation was identified.
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