Polymerase chain reaction-mediated site-directed mutagenesis detection of Z and S alpha-1-antitrypsin alleles in family members
✍ Scribed by Gary Hammerberg; David F. Keren
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 506 KB
- Volume
- 10
- Category
- Article
- ISSN
- 0887-8013
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✦ Synopsis
Alpha-1 -antitrypsin (A1 AT) deficiency is an autosomal hereditary disorder with a reduction in serum A1 AT levels. In a large family, we used a polymerase chain reaction (PCR)- mediated, site-directed mutagenesis assay to detect the two most common AlAT deficient variants, Z and S. By coamplification, using primers for both the 2 and S mutations, we were able to detect heterozygous and homozygous genotypes for both mutations in a single reaction. We compared our results with phenotype studies obtained by standard immunofixation and isoelectric focusing techniques at two reference laboratories. Whereas PCR and isoelectric focusing agreed completely, there were five discrepancies in the results obtained by the