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  • Title: [Clinical application of chromosome haplotype analysis and mutation analysis to the diagnosis of Wilson's disease].
    Author: Shi X, Ling Q, Xia J, Wu H.
    Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 1999 Feb 10; 16(1):32-5. PubMed ID: 9950703.
    Abstract:
    OBJECTIVE: To set up the method of gene diagnosis of Wilson's disease (WD) by chromosome haplotype analysis and mutation detection. METHODS: This study selected 3 (CA)n repeat genetic markers,D13S316, D13S133 and D13S314 to construct the chromosome haplotype within 8 Han WD families. PCR-SSCP was used to reconfirm the diagnosis of the siblings of the probands in the families where in the disease-causing mutation had been detected. RESULTS: One asymptomatic WD patient and 5 heterozygotes were detected. CONCLUSION: In the WD families, the analysis of chromosome haplotype helps to make the diagnosis of siblings of the probands;for the WD families in which the disease-causing mutation has been ascertained, mutation analysis can provide direct and definite evidence for diagnosis. The combination of these two methods can provide more evidences for diagnosis.
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