Identification of exon 18 and exon 14 mutation of WD gene with PCR-SSCP

[Objective] To investigate the mutations of WD gene in exon 18 and exon 14, and provide information for gene diagnoses. [Methods] Use PCR-SSCP technique to find the abnormity, the abnormity was sequenced. [Results] One case was found abnormal band in exon 18 of 45 patients and 20 normal controls, but no gene mutation was found. [Conclusions] The results suggest that exon 18 and exon 14 may not be frequent mutation points in Chinese Wilson disease.