PMID- 11844968
OWN - NLM
STAT- MEDLINE
DCOM- 20020327
LR  - 20171101
IS  - 0025-7931 (Print)
IS  - 0025-7931 (Linking)
VI  - 69
IP  - 1
DP  - 2002
TI  - A fast amplification-reverse hybridization assay kit to detect the most frequent 
      deficient variants in the alpha-1-antitrypsin gene.
PG  - 81-5
AB  - BACKGROUND: There is worldwide growing awareness of alpha-1-antitrypsin 
      deficiency (AATD), a major hereditary disorder in Caucasians. The gold standard 
      for its laboratory diagnosis is thin-layer isoelectric focusing, which should be 
      performed in reference laboratories. OBJECTIVES: The aim of this study was to 
      check the characteristics of a commercially available amplification-reverse 
      hybridization assay kit in detecting at a molecular level the alpha-1-antitrypsin 
      (AAT) Z and S variants, i.e. the most frequent variants associated with AATD, by 
      comparing its performance with DNA restriction fragment length polymorphism. 
      METHODS: We studied samples from 36 subjects enrolled in the Italian National 
      Registry for Severe Alpha-1-antitrypsin Deficiency. Based on previous plasma 
      isoelectric focusing typing, we selected samples with the following phenotypes: 
      MM (9 samples), MS (9 samples), SZ (3 samples), MZ (11 samples), ZZ (3 samples), 
      and a rare variant (1 sample). DNA was extracted by the standard method. The 
      presence of the AAT Z and S gene variants was determined by the 
      amplification-reverse hybridization test kit, following the manufacturer's 
      instructions, and by the restriction fragment length polymorphism technique, 
      according to established procedures. RESULTS: We found that the identification of 
      the AAT Z and S gene variants obtained by the amplification-reverse hybridization 
      test kit was completely in agreement with that obtained by the restriction 
      fragment length polymorphism technique. CONCLUSIONS: We conclude that the test 
      kit provides a fast, easy and unambiguous identification of Z and S alleles. 
      Because of its transferability to routine laboratories, the test kit may be 
      useful in identifying cases of severe AATD, thus resulting in increasing 
      awareness of this rare disorder.
CI  - Copyright 2002 S. Karger AG, Basel
FAU - Zorzetto, M
AU  - Zorzetto M
AD  - Laboratorio di Biochimica e Genetica, Clinica di Malattie dell'Apparato 
      Respiratorio, IRCCS Policlinico San Matteo, Universita di Pavia, Italia.
FAU - Tamburnotti, C
AU  - Tamburnotti C
FAU - Maschietto, B
AU  - Maschietto B
FAU - Massi, G
AU  - Massi G
FAU - Battaggia, C
AU  - Battaggia C
FAU - Medaglia, S
AU  - Medaglia S
FAU - Luisetti, M
AU  - Luisetti M
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Switzerland
TA  - Respiration
JT  - Respiration; international review of thoracic diseases
JID - 0137356
RN  - 0 (Reagent Kits, Diagnostic)
RN  - 0 (alpha 1-Antitrypsin)
SB  - IM
MH  - Humans
MH  - Nucleic Acid Hybridization/*methods
MH  - Polymerase Chain Reaction
MH  - *Polymorphism, Restriction Fragment Length
MH  - Reagent Kits, Diagnostic
MH  - *Restriction Mapping
MH  - Sensitivity and Specificity
MH  - alpha 1-Antitrypsin/*genetics
MH  - alpha 1-Antitrypsin Deficiency/diagnosis/*genetics
EDAT- 2002/02/15 10:00
MHDA- 2002/03/28 10:01
CRDT- 2002/02/15 10:00
PHST- 2002/02/15 10:00 [pubmed]
PHST- 2002/03/28 10:01 [medline]
PHST- 2002/02/15 10:00 [entrez]
AID - 49375 [pii]
AID - 10.1159/000049375 [doi]
PST - ppublish
SO  - Respiration. 2002;69(1):81-5. doi: 10.1159/000049375.