Isoelectrofocusing and PCR Amplification-Reverse Hybridization Assay in Evaluation of Alpha-1-Antitrypsin Deficiency
2009
Преузимање 🢃
Аутори
Beletić, AnđeloĐorđević, Valentina
Dudvarski-Ilić, Aleksandra
Obradović, Ivana
Mirković, Duško
Ilić, Mirka
Radojković, Dragica
Majkić-Singh, Nada
Чланак у часопису (Објављена верзија)
Метаподаци
Приказ свих података о документуАпстракт
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.
Кључне речи:
isoelectrofocusing / PCR-reverse hybridization / alpha-1-antitrypsinИзвор:
Journal of Medical Biochemistry, 2009, 28, 4, 241-247Издавач:
- Društvo medicinskih biohemičara Srbije, Beograd i Versita
Финансирање / пројекти:
- Биохемијски показатељи оштећења и дисфункције органа (RS-MESTD-MPN2006-2010-145010)
DOI: 10.2478/v10011-009-0023-x
ISSN: 1452-8258
WoS: 000271039600004
Scopus: 2-s2.0-70449403475
Институција/група
PharmacyTY - 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 . .