Author(s): Seixas S, Garcia O, Trovoada MJ, Santos MT, Amorim A, et al.
The levels of haplotype diversity associated with different alpha1-antitrypsin (PI) alleles were assessed by the analysis of three microsatellites located within or close to corticosteroid-binding globulin (CBG), alpha1-antitrypsin [PI-(TG)n] and protein C inhibitor [PCI-(TG)n] loci in three populations with different historic backgrounds: Portugal, the Basque Country and São Tomé Príncipe (Gulf of Guinea). Unlike the more distant PCI-(TG)n repeat, allelic variation at PI-(TG)n reflected distinct phases of mutational recovery of microsatellite diversity around different founder alleles and showed a considerable differentiation between alpha1-antitrypsin protein variants. In accordance with population history, the Basque sample presented overall reduced levels of microsatellite variation. The African sample, although presenting the highest PCI-(TG)n diversity, showed a lineage-specific reduction in PI-(TG)n heterozygosity within the oldest M1Ala213 variant that could have been caused by (1) selection at a closely linked locus or (2) biases in the microsatellite mutation process leading to a stable equilibrium distribution. Age estimates of alpha1-antitrypsin variants based on microsatellite variation suggest that the Z deficiency allele appeared 107-135 generations ago and could have been spread in Neolithic times. The S mutation has an older 279- to 470-generation age, indicating that its high frequencies in Iberia did not result from a recent bottleneck and that PI*S could have originated in this region. M2 and M3 types had lower age estimates than would be expected from their wide geographical distributions, suggesting that their dispersion in Europe might have been preceded by important bottlenecks.
Referred From: https://www.ncbi.nlm.nih.gov/pubmed/11214903
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): Costa X, Jardi R, Rodriguez F, Miravitlles M, Cotrina M, et al.
Author(s): Stoller JK, Aboussouan LS
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