R Yang1, Y Fan, L Yu. 1. Institute of Neurology, Anhui College of TCM, Hefei.
Abstract
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.
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 WDpatients 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.