Distribution of alpha1 antitrypsin rare alleles in six countries: Results from the Progenika diagnostic network.

ABSTRACT:

Background

Knowledge of the frequency of rare SERPINA1 mutations could help in the management of alpha1 antitrypsin deficiency (AATD). The present study aims to assess the frequencies of rare and null alleles and their respiratory and hepatic pathogenicity.

Methods

This is a secondary analysis of a study that evaluated the viability of the Progenika diagnostic genotyping system in six different countries by analyzing 30,827 samples from cases of suspected AATD. Allele-specific genotyping was carried out with the Progenika A1AT Genotyping Test which analyses 14 mutations in buccal swabs or dried blood spots samples. SERPINA1 gene sequencing was performed for serum AAT-genotype discrepancies or by request of the clinician. Only cases with rare mutations were included in this a

SUBMITTER: Lopez-Campos JL 

PROVIDER: S-EPMC10241133 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature