Laboratory diagnosis by genotyping

Irene Belmonte; Luciana Montoto; Francisco Rodríguez-Frías

doi:10.1007/978-1-4939-7163-3_5

Laboratory diagnosis by genotyping

Irene Belmonte, Luciana Montoto, Francisco Rodríguez-Frías

Department of Biochemistry and Molecular Biology

Research output: Chapter in Book › Chapter › Research › peer-review

Abstract

© Springer Science+Business Media LLC 2017. Alpha-1 antitrypsin (AAT) genotyping is useful to confirm the clinical diagnosis of AAT deficiency and determine the specific allelic variant. Genotyping is the reference standard procedure for identifying rare allelic variants and characterizing new variants. It is also useful when there is a discrepancy between the patients’ AAT levels and their phenotypes. AAT genotype is determined by an allele-specific genotyping assay for the S, Z, and Mmalton variants and by exome sequencing.

Original language	English
Title of host publication	Methods in Molecular Biology
Pages	45-60
Number of pages	15
Volume	1639
DOIs	https://doi.org/10.1007/978-1-4939-7163-3_5
Publication status	Published - 1 Jan 2017

Keywords

Alpha-1 antitrypsin allele-specific genotyping
Alpha-1 antitrypsin deficiency
Alpha-1 antitrypsin exome sequencing
Alpha-1 antitrypsin genotyping
Alpha-1 antitrypsin laboratory diagnosis
LightCycler
Melting curves

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10.1007/978-1-4939-7163-3_5

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abstract = "{\textcopyright} Springer Science+Business Media LLC 2017. Alpha-1 antitrypsin (AAT) genotyping is useful to confirm the clinical diagnosis of AAT deficiency and determine the specific allelic variant. Genotyping is the reference standard procedure for identifying rare allelic variants and characterizing new variants. It is also useful when there is a discrepancy between the patients{\textquoteright} AAT levels and their phenotypes. AAT genotype is determined by an allele-specific genotyping assay for the S, Z, and Mmalton variants and by exome sequencing.",

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AB - © Springer Science+Business Media LLC 2017. Alpha-1 antitrypsin (AAT) genotyping is useful to confirm the clinical diagnosis of AAT deficiency and determine the specific allelic variant. Genotyping is the reference standard procedure for identifying rare allelic variants and characterizing new variants. It is also useful when there is a discrepancy between the patients’ AAT levels and their phenotypes. AAT genotype is determined by an allele-specific genotyping assay for the S, Z, and Mmalton variants and by exome sequencing.

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KW - Alpha-1 antitrypsin deficiency

KW - Alpha-1 antitrypsin exome sequencing

KW - Alpha-1 antitrypsin genotyping

KW - Alpha-1 antitrypsin laboratory diagnosis

KW - LightCycler

KW - Melting curves

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BT - Methods in Molecular Biology

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