Carrier detection and presymptomatic identification of Wilson disease in Chinese by non-isotopic linkage analysis with four short tandem repeat polymorphisms |
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Authors: | Zhiying Wu Ning Wang Shenxing Murong Xuzhong Ruan |
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Institution: | (1) Institute of Neurological Sciences, Department of Neurology, The First Affiliated Hospital of Fujian Medical University, 350005 Fujian;(2) Department of Neurology, Tongji Hospital, Tongji Medical University, 430030 Wuhan |
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Abstract: | Summary: Wilson disease (WD) is an autosomal recessive disorder of copper metabolism. To establish an efficient, accurate and fast diagnostic method for carrier detection and presymptomatic identification of WD in Chinese population, we studied haplotypes of short tandem repeat (STR) polymorphisms flanking the WD gene in 40 Chinese WD families. The results suggested that this genetic diagnosis system based on the four STR polymorphisms is of high value for the detection of potential carriers and WD homozygotes in families with at least one previously affected child. It is an efficient, accurate and fast diagnostic method that can be well suited for routine use in clinical laboratories. |
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Keywords: | Wilson disease short tandem repeat gene diagnosis |
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