期刊
CLINICAL CHEMISTRY AND LABORATORY MEDICINE
卷 42, 期 5, 页码 507-510出版社
WALTER DE GRUYTER GMBH
DOI: 10.1515/CCLM.2004.086
关键词
ATP7B; multiplex PCR; mutation detection; rapid genetic testing; Wilson disease
Wilson disease leads to severe hepatic and neurological pathology resulting from cellular copper overload in the respective tissue. Although the affected gene, ATP7B, has been identified, genetic testing is challenging, time-consuming and expensive. Here we describe the development and use of a novel diagnostic test for four frequent mutations (M769V, W779X, H1069Q and P1134P-fs) found in Germany and many other countries in Europe. The test is based on multiplex polymerase chain reaction and DNA strip technology and was found to be highly sensitive and specific, as well as timely and cost-effective. We conclude that this test is a useful and reliable tool to screen Wilson disease patients and their family members for these mutations and may facilitate diagnosis in this complex disease.
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