Naslov
Prevalence of prothrombin 20210 G-A gene mutation in Croatia

Autori
Kozulić, Mirjana ; Zadro, Renata ; Coen, Desiree ; Honović, Lorena ; Banfić, Ljiljana

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Skup
IFCC-WorldLab '99

Mjesto i datum
Firenca, Italija, 06.06.1999. - 11.06.1999

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
prothrombin; mutation; 20210 G-A gene

Sažetak
The prothrombin 20210 G-A gene mutation has recently been reported as a risk factor for venous thrombosis estimated to be present in up to 6% thrombotic patients. The only current way to detect the prothrombin 20210 mutation is DNA analysis. In this investigation we studied 140 patients with at least one episode of venous thromboembolism (42 males, 98 females) referred to our laboratory for hypercoagulable evaluation and 43 healthy subjects (11 males, 32 females) as a control group. Additionally, we also investigated the distribution of the prothrombin alleles in Croatian population. Genomic DNA was extracted according to standard procedures and amplified using primers according to Poort et al (Blood 1996 ; 88:3698). PCR products were subjected to digestion with Hind III and aliquots were separated by electrophoresis on Spreadex gels (Guest Elchrom Scientific, Cham, Switzerland). Among all the individuals tested, six patients (4.3%) and 1 healthy control (2.3%) were found to be heterozygous for the 20210 A mutation, corresponding to a frequency of the mutated alleles of 2.15% among the patients and 1.15% among the controls. No homozygous individual was detected. Although the investigation was performed on the relatively small number of samples, prevalence data are similar to already published results.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

POVEZANOST RADA