Sanger and Next-Generation Sequencing of AAT.

Sequencing of DNA is normally the final procedure carried out to determine the actual pathogenic variants when the techniques used for genotyping are unable to provide complete identification of both AAT alleles. Gene sequencing of complete SERPINA1 gene by using the Sanger method or next-generation sequencing (NGS) is crucial to enable correct diagnosis in patients with alpha1-antitrypsin deficiency caused by uncommon AAT variants.This protocol explains how to correctly sequence SERPINA1 gene both with Sanger method and NGS. © 2024. The Author(s), under exclusive license to Springer Science+Business Media, LLC, part of Springer Nature.

Citation

Valentina Barzon, Ilaria Ferrarotti, Stefania Ottaviani. Sanger and Next-Generation Sequencing of AAT. Methods in molecular biology (Clifton, N.J.). 2024;2750:57-67

Mesh Tags

PMID: 38108967

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