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[A simple and rapid method for detection of the 106Gln mutation in Wilson-Konovalov disease]
M I Shadrina1, P A Slominskiĭ, A V Karabanov
1Institute of Molecular Genetics, Russian Academy of Sciences, Moscow, 123182 Russia.
Genetika
|February 11, 2003
Abstract:
A simple and rapid method for detecting the 1069Gln mutation in gene ATP7B based on a PCR specific for this allele has been developed. The 1069Gln mutation is the main cause of Wilson disease (WD) in Russia and accounts for approximately 40% of all mutant alleles of gene ATP7B. Therefore, the method proposed makes the postnatal and prenatal diagnosis of Wilson disease in Russia considerably more rapid and less expensive.