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Titolo:
The heterozygous 20210 G/A genotype prevalence in patients affected by central and branch retinal vein occlusion: a pilot study
Autore:
Incorvaia, C; Parmeggiani, F; Costagliola, C; Lamberti, G; Ferraresi, P; Bernardi, F; Sebastiani, A;
Indirizzi:
Univ Ferrara, Dept Ophthalmol, I-44100 Ferrara, Italy Univ Ferrara Ferrara Italy I-44100 pt Ophthalmol, I-44100 Ferrara, Italy Univ Ferrara, Dept Biochem & Mol Biol, I-44100 Ferrara, Italy Univ Ferrara Ferrara Italy I-44100 em & Mol Biol, I-44100 Ferrara, Italy
Titolo Testata:
GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY
fascicolo: 4, volume: 239, anno: 2001,
pagine: 251 - 256
SICI:
0721-832X(200104)239:4<251:TH2GGP>2.0.ZU;2-V
Fonte:
ISI
Lingua:
ENG
Soggetto:
ACTIVATED PROTEIN-C; POOR ANTICOAGULANT RESPONSE; FACTOR-V GENE; VENOUS THROMBOSIS; PROTHROMBIN GENE; RISK FACTOR; FAMILIAL THROMBOPHILIA; POINT MUTATIONS; RESISTANCE; DEFICIENCY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
49
Recensione:
Indirizzi per estratti:
Indirizzo: Incorvaia, C Univ Ferrara, Dept Ophthalmol, Corso Giovecca 203, I-44100 Ferrara, Italy Univ Ferrara Corso Giovecca 203 Ferrara Italy I-44100 Italy
Citazione:
C. Incorvaia et al., "The heterozygous 20210 G/A genotype prevalence in patients affected by central and branch retinal vein occlusion: a pilot study", GR ARCH CL, 239(4), 2001, pp. 251-256

Abstract

Background: Several inherited conditions have been associated with an increased or decreased incidence of retinal vein occlusion (RVO). The A allele in the 20210 G/A prothrombin gene has been found to be associated with systemic venous thrombosis. The aim of this study has been to verify the prevalence of this mutation in patients affected by central RVO (CRVO) or branch RVO (HRVO). Methods: A retrospective study was carried out on 100 consecutive patients suffering from RVO, more than 50 years old, unaffected by systemic diseases known to be associated with markedly increased RVO occurrence. We determined the frequency of this mutation by performing mutagenised amplification of exon 14 followed by restriction analysis of the amplified DNAfragment. Results: The overall frequency of prothrombin 20210A allele in RVO patients was 6.0%. All heterozygous patients had suffered from CRVO. In this study subgroup, the frequency of the 20210 G/A prothrombin heterozygosis was 12.0%. The difference in the frequency of this the genetic variant between the CRVO and BRVO groups was statistically significant. None of the conventional RVO risk factors were statistically related to the occurrence of the disease in either the CRVO or the BRVO subgroup. Conclusion The prevalence of the prothrombin 20210A mutation observed in CRVO patients is significantly higher than in the normal Italian population. Moreover, the prevalence is significantly greater in CRVO than in BRVO patients. These resultsraise the possibility that the prothrombin 20210A variant may be considered as a risk factor for CRVO.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 19/01/20 alle ore 01:17:01