Laboratory Diagnosis by Genotyping

Methods Mol Biol. 2017:1639:45-60. doi: 10.1007/978-1-4939-7163-3_5.

Abstract

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.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Base Sequence
  • Clinical Laboratory Techniques / methods*
  • DNA / genetics
  • DNA / isolation & purification
  • Exome / genetics
  • Exome Sequencing
  • Exons / genetics
  • Gene Amplification
  • Genotyping Techniques / methods*
  • Humans
  • Polymerase Chain Reaction

Substances

  • DNA