Identification of a mutation hotspot in exon 8 of Wilson disease gene by cycle sequencing

Y Fan; L Yu; Y Jiang; Y Xu; R Yang; Y Han; Y Cui; M Ren; S Zhao

Identification of a mutation hotspot in exon 8 of Wilson disease gene by cycle sequencing

Chin Med J (Engl). 2000 Feb;113(2):172-4.

Authors

Y Fan¹, L Yu, Y Jiang, Y Xu, R Yang, Y Han, Y Cui, M Ren, S Zhao

Affiliation

¹ State Key Laboratory of Genetic Engineering, Institute of Genetics, Fudan University, Shanghai 200433, China.

PMID: 11775546

Abstract

Objective: To screen for mutation hotspot of Wilson disease (WD) gene in Chinese population.

Methods: Cycle sequencing was used to detect mutation in exon 8 of WD gene in 30 patients with Wilson disease.

Results: The same missense mutation, Arg779Leu, was identified in 14 WD patients, four of whom were homozygous and the other heterozygous for this mutation. The frequency of this mutation in Chinese patients was 30%.

Conclusion: The codon 779 (CCG-->CTG) of exon 8 of WD gene was one of mutation hotspots in Chinese.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adenosine Triphosphatases / genetics*
Age of Onset
Base Sequence
Cation Transport Proteins / genetics*
Copper-Transporting ATPases
DNA / chemistry
DNA / genetics
DNA Mutational Analysis
Exons / genetics*
Female
Gene Frequency
Genotype
Hepatolenticular Degeneration / genetics*
Hepatolenticular Degeneration / pathology
Humans
Male
Mutation
Mutation, Missense

Substances

Cation Transport Proteins
DNA
Adenosine Triphosphatases
Copper-Transporting ATPases