Biopolym. Cell. 1991; 7(3):20-24.
http://dx.doi.org/10.7124/bc.0002C9
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

Abstract

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.
Full text: (PDF, in Russian)

References

[1] Fagerhol MK, Cox DW. The Pi polymorphism: genetic, biochemical, and clinical aspects of human alpha 1-antitrypsin. Adv Hum Genet. 1981;11:1-62, 371-2. Review.
[2] Crystal RG, Brantly ML, Hubbard RC, Curiel DT, States DJ, Holmes MD. The alpha 1-antitrypsin gene and its mutations. Clinical consequences and strategies for therapy. Chest. 1989;95(1):196-208. Review.
[3] Eriksson S, Carlson J, Velez R. Risk of cirrhosis and primary liver cancer in alpha 1-antitrypsin deficiency. N Engl J Med. 1986;314(12):736-9.
[4] Kidd VJ, Golbus MS, Wallace RB, Itakura K, Woo SL. Prenatal diagnosis of alpha 1-antitrypsin deficiency by direct analysis of the mutation site in the gene. N Engl J Med. 1984;310(10):639-42.
[5] Cox DW, Mansfield T. Prenatal diagnosis of alpha 1 antitrypsin deficiency and estimates of fetal risk for disease. J Med Genet. 1987;24(1):52-9.
[6] Schwartz M, Petersen KB, Gregersen N, Hinkel K, Newton CR. Prenatal diagnosis of alpha-1-antitrypsin deficiency using polymerase chain reaction (PCR). Comparison of conventional RFLP methods with PCR used in combination with allele specific oligonucleotides or RFLP analysis. Clin Genet. 1989;36(6):419-26.
[7] Gyllensten UB, Erlich HA. Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus. Proc Natl Acad Sci U S A. 1988;85(20):7652-6.
[8] Newton CR, Graham A, Heptinstall LE, Powell SJ, Summers C, Kalsheker N, Smith JC, Markham AF. Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Nucleic Acids Res. 1989;17(7):2503-16.