Biopolym. Cell. 1991; 7(3):20-24.
The use of polymerase chain reaction in the diagnosis of inherited alpha1-anti-trypsin deficiency
1Schwarzman A. L., 2Kovalska A., 1Strakhova M. I., 1Gaitskhoki V. S.
  1. Institute of Experimental Medicine, Academy of Medical Sciences of the USSR
    Leningrad, USSR
  2. Instituteof Human Genetics, Polish Academy of Sciences
    Poznan, Poland


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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