In:
Journal of Medical Biochemistry, Centre for Evaluation in Education and Science (CEON/CEES), Vol. 28, No. 4 ( 2009-10-1), p. 241-247
Abstract:
Alpha-1-antitrypsin deficiency is a potentially lethal genetic disorder, which has pulmonary and liver manifestations. The standardized biochemical and molecular diagnostic protocol for detection of clinically relevant alleles is needed. The paper summarizes current concepts about AATD, describes the potentials of isoelectric focusing and PCR amplification-reverse allele specific oligonucleotide hybridization assay in the detection of affected individuals and shortly presents our experiences in the evaluation of AATD. We conclude that the systematic clinical laboratory approach to AATD might be based on the combination of mentioned methods, coordinated by alpha-1-antritrypsin quantification. Additionally, its complete medical implementation is achieved through teamwork between clinical chemists, molecular biologists and clinicians.
Type of Medium:
Online Resource
ISSN:
1452-8266
,
1452-8258
DOI:
10.2478/v10011-009-0023-x
Language:
Unknown
Publisher:
Centre for Evaluation in Education and Science (CEON/CEES)
Publication Date:
2009
detail.hit.zdb_id:
2405112-3