Confirm polymorphisms in exon 18 of Wilson disease gene in Chinese.
- VernacularTitle:中国人肝豆状核变性基因18号外显子的构象多态性
- Author:
Shaochun MA
;
Xiuling LIANG
;
Pingyi XU
- Publication Type:Journal Article
- From:
Chinese Journal of Nervous and Mental Diseases
2001;27(2):86-88
- CountryChina
- Language:Chinese
-
Abstract:
Objective To screen for gene mutation of exon 18 in Chinese patients with Wilson disease. Methods PCR-SSCP was used to screen exon 18 in 45 Wilson disease patients among 39 Chinese families and 10 normal controls. Those with abnormality were further analyzed by necleotide sequence analysis. Results There were 16 mobility shift with two different styles in exon 18. All abnormal mobility shifts were sequence analysed. No gene mutation was found. Conclusions Our result suggest that, contrary to findings in Caucasians, exon 18 is not a frequent mutation point in Chinese patients with Wilson disease.
