Biopolymers and cell. 1991. Volume 7. № 3. 20 - 24

SCHWARZMAN A. L., KOVALSKA A., STRAKHOVA M. I., GAITSKHOKI V. S.

The Use of Polymerase Chain Reaction in the Diagnosis of Inherited Alpha1-Anti-trypsin Deficiency

Summary

    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.