Author(s): Costa X, Jardi R, Rodriguez F, Miravitlles M, Cotrina M, et al.
The use of dried blood spot (DBS) specimens in quantitative alpha1-antitrypsin (alpha1-AT) detection or genetic analysis is limited because protein levels in the samples are low and they contain components that can interfere with polymerase chain reaction amplification. A methodological adaptation was developed to overcome these drawbacks which is discussed here. The study population consisted of 200 healthy volunteers and 300 patients with chronic obstructive pulmonary disease (COPD). DBS specimens were tested for alpha1-AT concentration using a modified nephelometric assay and phenotyped with an isoelectric focusing method. Genetic diagnosis was established by deoxyribonucleic acid sequencing using a simple purification procedure to remove contaminants. The nephelometric method showed a detection limit of 0.284 mg x dL(-1), corresponding to a serum concentration of 13 mg x dL(-1). The correlation coefficient between alpha1-AT concentrations in DBS versus serum samples was R2=0.8674 (p<0.0001). All 200 healthy individuals had DBS alpha1-AT concentrations >1.9 mg x dL(-1), corresponding to 114 mg x dL(-1) in serum samples. One hundred and twenty-five COPD patients (42%) showed alpha1-AT values <1.8 mg x dL(-1). Twenty patients with the PIZ phenotype had alpha1-AT values lower than 0.64 mg x dL(-1). On the basis of genotyping, one COPD patient was classified as heterozygous (PIMM(heerlen)). Selective elution of contaminants resulted in optimal alpha(1)1-antitrypsin genotyping. Because of its sensitivity and excellent correlation with the standard method, the dried blood spot quantitative assay is a reliable tool for routine measurement of alpha1-antitrypsin.
Referred From: https://www.ncbi.nlm.nih.gov/pubmed/10885432
Author(s): Abbott OA, Hopkins WA, Van Fleit WE , Robinson JS
Author(s): Barnes PJ
Author(s): Barnes PJ , Shapiro SD, Pauwels RA
Author(s): Barnes PJ
Author(s): Bast A , Haenen GR, Doelman CJ
Author(s): Bianco P, Robey P G
Author(s): BittmannI , Dose T, Baretton GB, Müller C, Schwaiblmair M, et al.
Author(s): Böyum A
Author(s): Brantigan O C, Mueller E, Kress M B
Author(s): Cooper JD, Patterson GA, Grossman R, Maurer J
Author(s): Cooper JD, Trulock EP, Triantafillou AN, Patterson GA, Pohl MS, et al.
Author(s): Dallegri F, Ottonello L
Author(s): Di Stefano A, Maestrelli P, Roggeri A, Turato G, Calabro S, et al.
Author(s): Di Stefano A, Capelli A, Lusuardi M, Balbo P, Vecchio C, et al.
Author(s): Eriksson S
Author(s): Holden C, Vogel G
Author(s): Huang Q, Liu D, Majewski P, Schulte LC, Korn JM, et al.
Author(s): Hyatt RE1, Farkas G, Schroeder M
Author(s): Ishizawa K, Kubo H, Yamada M, Kobayashi S, Numasaki M et al.
Author(s): Koca E, Champlin RE
Author(s): Kotton DN, Ma BY, Cardoso WV, Sanderson EA, Summer RS, et al.
Author(s): Lama VN , Smith L, Badri L, Flint A, Andrei AC, et al.
Author(s): Hogg J C, Walker B A
Author(s): Nikula KJ , March TH, Seagrave J, Finch G, Barr E, et al.
Author(s): Orlic D, Kajstura J, Chimenti S, Limana F, Jakoniuk I, et al.
Author(s): Prockop DJ
Author(s): Lagasse E , Connors H, Al-Dhalimy M, Reitsma M, Dohse M, et al.
Author(s): Krause DS, Theise ND, Collector MI, Henegariu O, Hwang S, et al.
Author(s): Finkelstein R, Fraser RS, Ghezzo H, Cosio MG
Author(s): Hellermann G R, Nagy S B, Kong, X.; Lockey, R.F.Mohapatra, S.S.
Author(s): Lopez AD, Murray CC
Author(s): Mahadeva R , Shapiro SD
Author(s): Martin GR
Author(s): Pushpakon R, Hogg J C, Woolcock A J, Angus A E, Macklem P T et al.
Author(s): Retamales I , Elliott WM, Meshi B, Coxson HO, Pare PD, et al.
Author(s): Russell RE , Thorley A, Culpitt SV, Dodd S, Donnelly LE, et al.
Author(s): Gordon B
Author(s): Gross P, Pfitzer E A, Tolker E, Babyak M A, Kaschak M
Author(s): Saetta M, Di Stefano A, Turato G, Facchini FM, Corbino L, et al.
Author(s): Saetta M, Turato G, Maestrelli P, Mapp CE, Fabbri LM
Author(s): Schrepfer S, Deuse T, Reichenspurner H, Fischbein MP, Robbins RC, et al.
Author(s): Senior R M, Anthonisen N R
Author(s): Shapiro SD
Author(s): Suratt BT, Cool CD, Serls AE, Chen L, Varella-Garcia M, et al.
Author(s): Takubo Y, Guerassimov A, Ghezzo H, Triantafillopoulos A, Bates JH, et al.
Author(s): Till JE, McCulloch EA
Author(s): Turhan AG
Author(s): Van Bekkum DW
Author(s): Knudson R J, Gaensler E A
Author(s): Wagers AJ, Weissman IL
Author(s): Wagner J G, Roth RA
Author(s): Yamada M, Kubo H, Kobayashi S, Ishizawa K, Numasaki M, et al.
Author(s): Xu J, Qu J, Cao L, Sai Y, Chen C, et al.
Author(s): Carrell RW
Author(s): Vidal R, Blanco I, Casas F, Jardí R, Miravitlles M; Committee on the National Registry of Individuals with Alpha-1 Antitrypsin Deficiency
Author(s): Stoller JK, Aboussouan LS
Author(s): Seixas S, Garcia O, Trovoada MJ, Santos MT, Amorim A, et al.
Author(s): de Serres FJ
Author(s): Menezes AM, Perez-Padilla R, Jardim JR, Muiño A, Lopez MV, et al.
Author(s): de Faria EJ, de Faria IC, Alvarez AE, Ribeiro JD, Ribeiro AF, et al.
Author(s): Cruz PE, Mueller C, Cossette TL, Golant A, Tang Q, et al.
Author(s): Stockley RA, Luisetti M, Miravitlles M, Piitulainen E, Fernandez P; Alpha One International Registry (AIR) group
Author(s): Martorana PA, van Even P, Gardi C, Lungarella G
Author(s): Minguell JJ, Erices A, Conget P
Author(s): Nakayama K
Author(s): Neuringer IP , Randell SH
Author(s): Russell RE, Culpitt SV, DeMatos C, Donnelly L, Smith M, et al.
Author(s): Lieberman J, Winter B, Sastre A
Author(s): Popescu LM, Faussone-Pellegrini MS
Author(s): Popescu LM, Manole CG, Gherghiceanu M, Ardelean A, Nicolescu MI, et al.
Author(s): Popescu LM, Manole E, Serboiu CS, Manole CG, Suciu LC, et al.
Author(s): Mandache E, Gherghiceanu M, Macarie C, Kostin S, Popescu LM
Author(s): Gherghiceanu M, Popescu LM
Author(s): Cantarero I, Luesma MJ, Junquera C
Author(s): Cantarero Carmona I, Luesma Bartolomé MJ, Junquera Escribano C
Author(s): Zheng Y, Cretoiu D, Yan G, Cretoiu SM, Popescu LM, et al.
Author(s): Galiger C, Kostin S, Golec A, Ahlbrecht K, Becker S, et al.
Author(s): Zheng Y , Cretoiu D, Yan G, Cretoiu SM, Popescu LM, et al.
Author(s): Zheng Y Bai C, Wang X
Author(s): Popescu LM, Gherghiceanu M, Suciu LC, Manole CG, Hinescu ME
Author(s): Zheng Y , Li H, Manole CG, Sun A, Ge J, et al.
Author(s): Popescu LM, Gherghiceanu M, Suciu LC, Manole CG, Hinescu ME
Author(s): Hinescu ME, Gherghiceanu M, Suciu L, Popescu LM
Author(s): Suciu LC, Popescu BO, Kostin S, Popescu LM
Author(s): Díaz-Flores L, Gutiérrez R, García MP, Sáez FJ, Díaz-Flores L Jr, et al.
Author(s): Bani D, Formigli L, Gherghiceanu M, Faussone-Pellegrini MS
Author(s): Faussone-Pellegrini MS, Bani D
Author(s): Luesma MJ, Gherghiceanu M, Popescu LM
Author(s): Ceafalan L, Gherghiceanu M, Popescu LM, Simionescu O
Author(s): Manole C G, Cisma ÅŸiu V, Gherghiceanu M, Popescu LM