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Detection of alpha-1-antitrypsin deficiency variants by synthetic oligonucleotide hybridization
E C Klasen1, M H Hofker, H M van Paassen
1Department of Human Genetics, Sylvius Laboratories, State University, Leiden, The Netherlands.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|December 1, 1987
Abstract:
Oligonucleotide probes, specific for the two most common deficiency variants, Z and S, of alpha-1-antitrypsin have been successfully applied for the diagnosis at the DNA-level. The possible presence of silent alleles necessitates a careful study of the parents both at the protein- and DNA-level in prenatal diagnostic cases.