[Another hot point mutation of Wilson disease gene in Chinese: exon 12].
OBJECTIVE
To study the feature of disease-causing mutation of exon 12 of Wilson disease (WD) gene in Chinese and evaluate its value in direct gene diagnosis.


METHODS
Genomic DNA of 44 unrelated WD patients and 60 normal controls was prepared from peripheral blood leukocytes by a salt-out method. The mutation of exon 12 in these subjects was identified by PCR-single strand conformation polymorphism (SSCP) and further confirmed by direct sequencing.


RESULTS
Two missense mutations were identified in 8 cases (18%), including 6 cases of heterozygous for Thr935Met mutation and 2 of heterozygous for Gly943Asp mutation. Different features of mutation of exon 12 were noted between Chinese and Caucasian. Both Thr935Met and Gly943Asp were novel missense mutations and exon 12 was another hot point mutation of WD in Chinese besides exon 8.


CONCLUSIONS
The finding helps establish a fast and effective direct gene diagnosis.
Wu
Z
Z
Institute of Neurological Sciences, Department of Neurology, First Affiliated Hospital, Fujian Medical University, Fujian 350005, China.
Wang
N
N
Murong
S
S
D044466:Asian People; D005091:Exons / Q000235:genetics; D005260:Female; D006527:Hepatolenticular Degeneration / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction / Q000379:methods; D018807:Polymorphism, Single-Stranded Conformational