메뉴 건너뛰기




Volumn 756, Issue , 2013, Pages 29-37

Rapid DNA extraction protocol for detection of alpha-1 antitrypsin deficiency from dried blood spots by real-time pcr

Author keywords

Alpha1 antitrypsin deficiency; Dried blood spot; Genotyping; Real time PCR; Screening

Indexed keywords

ALPHA 1 ANTITRYPSIN; GENOMIC DNA;

EID: 84867502602     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-94-007-4549-0_5     Document Type: Conference Paper
Times cited : (13)

References (21)
  • 1
    • 0141706635 scopus 로고    scopus 로고
    • Standards for the diagnosis and management of individuals with alpha-1 antitrypsin de fi ciency
    • American Thoracic Society/European Respiratory Society Statement.
    • American Thoracic Society/European Respiratory Society Statement. (2003). Standards for the diagnosis and management of individuals with alpha-1 antitrypsin de fi ciency. American Journal of Respiratory and Critical Care Medicine, 168 , 818-900.
    • (2003) American Journal of Respiratory and Critical Care Medicine , vol.168 , pp. 818-900
  • 2
    • 30744432675 scopus 로고    scopus 로고
    • Estimated numbers and prevalence of PI*S and PI*Z alleles of alpha-1 antitrypsin de fi ciency in European countries
    • Blanco, I., de Serres, F. J., Fernandez-Bustillo, E., Lara, B., & Miravitlles, M. (2006). Estimated numbers and prevalence of PI*S and PI*Z alleles of alpha-1 antitrypsin de fi ciency in European countries. European Respiratory Journal, 27 , 77-84.
    • (2006) European Respiratory Journal , vol.27 , pp. 77-84
    • Blanco, I.1    De Serres, F.J.2    Fernandez-Bustillo, E.3    Lara, B.4    Miravitlles, M.5
  • 3
    • 34748900792 scopus 로고    scopus 로고
    • Evaluation of an integrative diagnostic algorithm for the identi fi cation of people at risk for alpha-1 antitrypsin de fi ciency
    • Bornhorst, J. A., Procter, M., Meadows, C., Ashwood, E. R., & Mao, R. (2007). Evaluation of an integrative diagnostic algorithm for the identi fi cation of people at risk for alpha-1 antitrypsin de fi ciency. American Journal of Clinical Pathology, 128 , 482-490.
    • (2007) American Journal of Clinical Pathology , vol.128 , pp. 482-490
    • Bornhorst, J.A.1    Procter, M.2    Meadows, C.3    Ashwood, E.R.4    Mao, R.5
  • 4
    • 33845541469 scopus 로고    scopus 로고
    • Ef fi cient and accurate approaches to the laboratory diagnosis of alpha1-antitrypsin de fi ciency: The promise of early diagnosis and intervention
    • Brantly, M. (2006). Ef fi cient and accurate approaches to the laboratory diagnosis of alpha1-antitrypsin de fi ciency: The promise of early diagnosis and intervention. Clinical Chemistry, 52 , 2180-2181.
    • (2006) Clinical Chemistry , vol.52 , pp. 2180-2181
    • Brantly, M.1
  • 5
    • 0031958575 scopus 로고    scopus 로고
    • Rapid, ef fi cient method for multiplex ampli fi cation from fi lter paper
    • Caggana, M., Conroy, J. M., & Pass, K. A. (1998). Rapid, ef fi cient method for multiplex ampli fi cation from fi lter paper. Human Mutation, 11 , 404-409.
    • (1998) Human Mutation , vol.11 , pp. 404-409
    • Caggana, M.1    Conroy, J.M.2    Pass, K.A.3
  • 6
    • 77958183283 scopus 로고    scopus 로고
    • Diagnosis and treatment of patients with alpha-1 antitrypsin (alpha-1 AT) de fi ciency
    • Chorostowska-Wynimko, J., Nizankowska-Mogilnicka, E., & The Working Group of the Polish Respiratory Society. (2010). Diagnosis and treatment of patients with alpha-1 antitrypsin (alpha-1 AT) de fi ciency. Pneumonologia i Alergologia Polska, 78 , 348-355.
    • (2010) Pneumonologia i Alergologia Polska , vol.78 , pp. 348-355
    • Chorostowska-Wynimko, J.1    Nizankowska-Mogilnicka, E.2
  • 8
    • 1542713396 scopus 로고    scopus 로고
    • Alpha-1 antitrypsin de fi ciency 2: Genetic aspects of alpha-1 antitrypsin de fi ciency: Phenotypes and genetic modi fi ers of emphysema risk
    • DeMeo, D. L., & Silverman, E. K. (2004). Alpha-1 antitrypsin de fi ciency 2: Genetic aspects of alpha-1 antitrypsin de fi ciency: Phenotypes and genetic modi fi ers of emphysema risk. Thorax, 59 , 259-264.
    • (2004) Thorax , vol.59 , pp. 259-264
    • Demeo, D.L.1    Silverman, E.K.2
  • 11
    • 34147214922 scopus 로고    scopus 로고
    • Global Initiative for Chronic Obstructive Lung Disease (GOLD).
    • Global Initiative for Chronic Obstructive Lung Disease (GOLD). (2010). Global strategy for diagnosis, management, and prevention of COPD (update), http://www.goldcopd.org/guidelines-global-strategy-for-diagnosis-management. html
    • (2010) Global Strategy for Diagnosis, Management, and Prevention of COPD (Update)
  • 12
    • 0020056914 scopus 로고
    • Typing of genetic variants of alpha-1 antitrypsin by electrofocusing
    • Jeppsson, J. O., & Franzén, B. (1982). Typing of genetic variants of alpha-1 antitrypsin by electrofocusing. Clinical Chemistry, 28 , 219-225.
    • (1982) Clinical Chemistry , vol.28 , pp. 219-225
    • Jeppsson, J.O.1    Franzén, B.2
  • 13
    • 35448967950 scopus 로고    scopus 로고
    • The prevalence of alpha-1-antitrypsin de fi ciency in a representative population sample from Poland
    • Kaczor, M. P., Sanak, M., Libura-Twardowska, M., & Szczeklik, A. (2007). The prevalence of alpha-1-antitrypsin de fi ciency in a representative population sample from Poland. Respiratory Medicine, 101 , 2520-2525.
    • (2007) Respiratory Medicine , vol.101 , pp. 2520-2525
    • Kaczor, M.P.1    Sanak, M.2    Libura-Twardowska, M.3    Szczeklik, A.4
  • 14
    • 0016791195 scopus 로고
    • Mass screening of newborn Swedish infants for alpha-1 antitrypsin de fi ciency
    • Laurell, C. B., & Sveger, T. (1975). Mass screening of newborn Swedish infants for alpha-1 antitrypsin de fi ciency. American Journal of Human Genetics, 27 , 213-217.
    • (1975) American Journal of Human Genetics , vol.27 , pp. 213-217
    • Laurell, C.B.1    Sveger, T.2
  • 15
    • 38849113202 scopus 로고    scopus 로고
    • What a drop can do: Dried blood spots as a minimally invasive method for integrating biomarkers into population-based research
    • McDade, T. W., Williams, S., & Snodgrass, J. J. (2007). What a drop can do: Dried blood spots as a minimally invasive method for integrating biomarkers into population-based research. Demography, 44 , 899-925.
    • (2007) Demography , vol.44 , pp. 899-925
    • McDade, T.W.1    Williams, S.2    Snodgrass, J.J.3
  • 16
    • 0034012627 scopus 로고    scopus 로고
    • Detection of alpha-1 antitrypsin PiZ individuals by SSCP and DNA sequencing in formalin-fi xed and paraf fi n-embedded tissue: A comparison with immunohistochemical analysis
    • Ortiz-Pallardo, M. E., Ko, Y., Sachinidis, A., Vetter, H., Fischer, H. P., & Zhou, H. (2000). Detection of alpha-1 antitrypsin PiZ individuals by SSCP and DNA sequencing in formalin-fi xed and paraf fi n-embedded tissue: A comparison with immunohistochemical analysis. Journal of Hepatology, 32 , 406-411.
    • (2000) Journal of Hepatology , vol.32 , pp. 406-411
    • Ortiz-Pallardo, M.E.1    Ko, Y.2    Sachinidis, A.3    Vetter, H.4    Fischer, H.P.5    Zhou, H.6
  • 19
    • 35348979977 scopus 로고    scopus 로고
    • Alpha-1 antitrypsin de fi ciency: Current perspective on research, diagnosis, and management
    • Stolk, J., Seersholm, N., & Kalsheker, N. (2006). Alpha-1 antitrypsin de fi ciency: Current perspective on research, diagnosis, and management. International Journal of COPD, 1 , 151-160.
    • (2006) International Journal of COPD , vol.1 , pp. 151-160
    • Stolk, J.1    Seersholm, N.2    Kalsheker, N.3
  • 20
    • 0026713887 scopus 로고
    • Detection of alpha-1 antitrypsin Z and S mutations by polymerase chain reaction-mediated site-directed mutagenesis
    • Tazelaar, J. P., Friedman, K. J., Kline, R. S., Guthrie, M. L., & Farber, R. A. (1992). Detection of alpha-1 antitrypsin Z and S mutations by polymerase chain reaction-mediated site-directed mutagenesis. Clinical Chemistry, 38 , 1486-1488.
    • (1992) Clinical Chemistry , vol.38 , pp. 1486-1488
    • Tazelaar, J.P.1    Friedman, K.J.2    Kline, R.S.3    Guthrie, M.L.4    Farber, R.A.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.