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[Using fluorescence PCR analysis for early diagnosis and carriers detection of Chinese Wilson's disease]
1Department of Neurology, the First Affiliated Hospital, Sun Yat-Sen University of Medical Sciences, Guangzhou, Guangdong, 510080 P.R.China. fan.huang@263.net
Objective:
To diagnose the pre-symptomatic cases of Chinese Wilson's disease(WD) and detect the potential carriers by using fluorescence PCR technique.
Methods:
Screening the high frequency spot Arg778Leu of WD gene mutation in 66 Chinese WD patients, 55 healthy family members and 30 controls, and selecting 3 random samples (2 from WD patients, 1 from controls) for DNA sequencing to testify the accuracy of fluorescence PCR.
Results:
Among 66 Chinese WD cases, 5 were found homozygous for mutation of Arg778Leu and 21 were compound heterozygous; the gene mutation rate was totally 39.4%. Out of 55 healthy family members, 12 were found heterozygous, and it was confirmed that 11 of these 12 individuals were WD gene carriers but not pre-symptomatic patients. The results of direct DNA sequencing consisted with those results detected by fluorescence PCR.
Conclusion:
The Arg778Leu mutation in exon 8 is the high frequency spot of Chinese Wilson's disease gene. Fluorescence PCR analysis is a rapid, accurate gene diagnostic method and demonstrates a high detecting rate.