Rapid detection of alpha-1-antitrypsin deficiency by analysis of a PCR-induced TaqI restriction site
✍ Scribed by Pamela J. Dry
- Publisher
- Springer
- Year
- 1991
- Tongue
- English
- Weight
- 404 KB
- Volume
- 87
- Category
- Article
- ISSN
- 0340-6717
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✦ Synopsis
A single base substitution is responsible for the PI-Z mutation in alpha-l-antitrypsin (AAT) deficiency. The Z mutation, which is in exon V of the AAT gene, was analysed directly using a primer designed with a single base substitution in the DNA sequence. During the polymerase chain reaction with this primer, a restriction enzyme site was created in the exon-V-amplified DNA sequence; this site was present in the normal allele (M form) but absent in the Z form. Here, the design of the primer and the application of the designer primer for prenatal diagnosis of chorion villus samples (CVS) for AAT deficiency is described. The method provides a simple rapid means of prenatal diagnosis of AAT deficiency within a day of the collection of the CVS. The detection of the nucleotide base change in AAT deficiency at the Z mutation site provides the opportunity for accurate prenatal diagnosis where no tissue is available from an AAT-affected individual.