Article
Use of the chemical cleavage of mismatch method for prenatal diagnosis of alpha-1-antitrypsin deficiency.
Prenatal diagnosis - 1 Feb 1992
Forrest S M, Dry P J, Cotton R G
Abstract excerpt
The most common mutation in alpha-1-antitrypsin deficiency, conversion of a G to an A at base 9989 (PI-Z), was detected with the chemical cleavage of mismatch method, demonstrating the power of the method for prenatal diagnosis. Exon V of the gene was amplified using the polymerase chain reaction and heteroduplexes were formed to test for the presence of the mutation. The predicted C mismatch was readily...
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