A novel method for rapid genotypic identification of alpha 1-antitrypsin variants.
Diagn Mol Pathol
; 13(3): 160-3, 2004 Sep.
Article
em En
| MEDLINE
| ID: mdl-15322427
ABSTRACT
There is worldwide growing awareness of alpha 1-antitrypsin deficiency (AATD), a major hereditary disorder in Caucasians. The gold standard for laboratory diagnosis of AATD is thin-layer isoelectrofocusing (IEF), which is labor intensive and should be performed in reference laboratories. The aim of this study was to find an easy, fast, and cheap method for detecting alpha1-antitrypsin S and Z variants, the most frequent variants associated with AATD. The novel method herein described is based on SexAI/Hpy99I RFLP. We studied samples from 90 subjects enrolled in the Italian National Registry for AATD, previously typed by isoelectrofocusing. We found a complete agreement among our results, IEF, and genotypes obtained by standard methods. We concluded that this novel method combines efficiency, ease, swiftness, and low cost.
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Base de dados:
MEDLINE
Assunto principal:
Polimorfismo de Fragmento de Restrição
/
Enzimas de Restrição do DNA
/
Alfa 1-Antitripsina
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
Idioma:
En
Ano de publicação:
2004
Tipo de documento:
Article