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.
TY - JOUR
AU - Beletić, Anđelo
AU - Đorđević, Valentina
AU - Dudvarski-Ilić, Aleksandra
AU - Obradović, Ivana
AU - Mirković, Duško
AU - Ilić, Mirka
AU - Radojković, Dragica
AU - Majkić-Singh, Nada
PY - 2009
UR - https://farfar.pharmacy.bg.ac.rs/handle/123456789/1163
AB - 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.
PB - Društvo medicinskih biohemičara Srbije, Beograd i Versita
T2 - Journal of Medical Biochemistry
T1 - Isoelectrofocusing and PCR Amplification-Reverse Hybridization Assay in Evaluation of Alpha-1-Antitrypsin Deficiency
VL - 28
IS - 4
SP - 241
EP - 247
DO - 10.2478/v10011-009-0023-x
ER -
@article{
author = "Beletić, Anđelo and Đorđević, Valentina and Dudvarski-Ilić, Aleksandra and Obradović, Ivana and Mirković, Duško and Ilić, Mirka and Radojković, Dragica and Majkić-Singh, Nada",
year = "2009",
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.",
publisher = "Društvo medicinskih biohemičara Srbije, Beograd i Versita",
journal = "Journal of Medical Biochemistry",
title = "Isoelectrofocusing and PCR Amplification-Reverse Hybridization Assay in Evaluation of Alpha-1-Antitrypsin Deficiency",
volume = "28",
number = "4",
pages = "241-247",
doi = "10.2478/v10011-009-0023-x"
}
Beletić, A., Đorđević, V., Dudvarski-Ilić, A., Obradović, I., Mirković, D., Ilić, M., Radojković, D.,& Majkić-Singh, N.. (2009). Isoelectrofocusing and PCR Amplification-Reverse Hybridization Assay in Evaluation of Alpha-1-Antitrypsin Deficiency. in Journal of Medical Biochemistry
Društvo medicinskih biohemičara Srbije, Beograd i Versita., 28(4), 241-247.
https://doi.org/10.2478/v10011-009-0023-x
Beletić A, Đorđević V, Dudvarski-Ilić A, Obradović I, Mirković D, Ilić M, Radojković D, Majkić-Singh N. Isoelectrofocusing and PCR Amplification-Reverse Hybridization Assay in Evaluation of Alpha-1-Antitrypsin Deficiency. in Journal of Medical Biochemistry. 2009;28(4):241-247.
doi:10.2478/v10011-009-0023-x .
Beletić, Anđelo, Đorđević, Valentina, Dudvarski-Ilić, Aleksandra, Obradović, Ivana, Mirković, Duško, Ilić, Mirka, Radojković, Dragica, Majkić-Singh, Nada, "Isoelectrofocusing and PCR Amplification-Reverse Hybridization Assay in Evaluation of Alpha-1-Antitrypsin Deficiency" in Journal of Medical Biochemistry, 28, no. 4 (2009):241-247,
https://doi.org/10.2478/v10011-009-0023-x . .
