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Titolo:
Patterns of haplotype diversity within the serpin gene cluster at 14q32.1:insights into the natural history of the alpha 1-antitrypsin polymorphism
Autore:
Seixas, S; Garcia, O; Trovoada, MJ; Santos, MT; Amorim, A; Rocha, J;
Indirizzi:
Univ Porto, IPATIMUP, Inst Patol & Imunol Mol, P-4200 Porto, Portugal UnivPorto Porto Portugal P-4200 ol & Imunol Mol, P-4200 Porto, Portugal Univ Porto, Fac Ciencias, P-4100 Porto, Portugal Univ Porto Porto Portugal P-4100 o, Fac Ciencias, P-4100 Porto, Portugal Secc Biol, Area Lab Ertzaintza, Bilbao, Spain Secc Biol Bilbao SpainSecc Biol, Area Lab Ertzaintza, Bilbao, Spain Univ Coimbra, Dept Antropol, Coimbra, Portugal Univ Coimbra Coimbra Portugal Coimbra, Dept Antropol, Coimbra, Portugal
Titolo Testata:
HUMAN GENETICS
fascicolo: 1, volume: 108, anno: 2001,
pagine: 20 - 30
SICI:
0340-6717(200101)108:1<20:POHDWT>2.0.ZU;2-U
Fonte:
ISI
Lingua:
ENG
Soggetto:
CORTICOSTEROID-BINDING GLOBULIN; (CA)N REPEAT POLYMORPHISM; PROTEIN-C INHIBITOR; ALPHA(1)-ANTITRYPSIN DEFICIENCY; LINKAGE DISEQUILIBRIUM; MICROSATELLITE LOCUS; MTDNA ANALYSIS; MUTATION-RATE; ALLELE SIZE; SAO-TOME;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
49
Recensione:
Indirizzi per estratti:
Indirizzo: Rocha, J Univ Porto, IPATIMUP, Inst Patol & Imunol Mol, R Dr Roberto FriasS-N, P-4200 Porto, Portugal Univ Porto R Dr Roberto Frias S-N Porto Portugal P-4200 Portugal
Citazione:
S. Seixas et al., "Patterns of haplotype diversity within the serpin gene cluster at 14q32.1:insights into the natural history of the alpha 1-antitrypsin polymorphism", HUM GENET, 108(1), 2001, pp. 20-30

Abstract

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 Countryand Sao Tome e Principe (Gulf of Guinea). Unlike the more distant PCI-(TCT)(n) repeat, allelic variation at PI-(TG), 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),, diversity, showed a lineage-specific reduction in PI-(TG), 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 al-antitrypsin variants based onmicrosatellite 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 importantbottlenecks.

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Documento generato il 30/09/20 alle ore 23:49:43