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The use of polymerase chain reaction in the diagnosis of inherited alpha1-anti-trypsin deficiency
- Institute of Experimental Medicine, Academy of Medical Sciences of the USSR
- Instituteof Human Genetics, Polish Academy of Sciences
Three different methods of DNA diagnosis of inherited alpharantitrypsin (AT) deficiensy were compared. All of these methods are based on the detection of a Z-mutation in PCR-amplified sequence of V-th exon of the AT gene. It was demonstrated that all the methods used (allele-specific hybridization, alternative priming and direct sequencing) are able to detect the Z-allele in both hetero- and homozygous carriers and hence may be applied to prenatal diagnosis of the inherited AT deficiency.
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