Naslov
The incidence of factor V Leiden and FII 20210A in patients with ischaemic stroke

Autori
Titlić, Marina ; Zadro, Renata ; Coen, Desiree ; Primorac, Dragan

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

Izvornik
Zbornik radova 3rd European-American School in Forensic Genetics and Mayo Clinical Course in Advanced Molecular and Cellular Medicine / - Zagreb, 2003

Skup
3rd European-American School in Forensic Genetics and Mayo Clinical Course in Advanced Molecular and Cellular Medicine

Mjesto i datum
Zagreb, Hrvatska, 01.09.2003. - 05.09.2003

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
FV Leiden; FII 20210A; ischaemic stroke

Sažetak
Along with heart diseases and malignant tumors, ischaemic stroke is the third most frequent cause of death in developed countries. The disease is caused by the damage of the brain due to the occlusion of arteries followed by ischaemia of the part of the body supplied by that blood vessel. 60% of all strokes are caused by atherosclerosis of cerebral arteries and 25% of them are caused by the embolism of blood vessels. Polyethiology of the disease varies significantly in different races, nations as well as gender. Numerous risk factors for stroke influence the incidence of the disease: hypertension, diabetes mellitus, disorder of lipid metabolism, heart diseases, smoking alcoholism, and obesity. The influence of the mutation in the gene for the coagulation factor V (Factor V Leiden) and in the gene for prothrombin (FII 20210A) in the process of the development of stroke is contradictory. The incidence of the just mentioned mutations in different races and nations varies significantly. The research included 88 participants with ischaemic stroke, both male and female, aging up to 65 years. Patients with secondary thrombophilia, patients who were receiving blood transfusion and in whom FVIII in thrombolysis was found, those with infectious conditions during the last two months, as well as those with implanted heart valves were excluded from the research. For the DNA analysis the blood with EDTA as a anticoagulant was used. Genomic DNA was isolated according to the standard procedure using phenol-chlorophorm extraction. The presence of Factor V Leiden and FII20210A was determined by PCR-RFLP. A 287-bp fragment encompassing position 1691 of factor V was amplified with primers according to the procedure of Zoeller et al. Following the digestion with MnlI, the normal type allele (1691G) resulted in 157 bp, 93 bp and 37 bp fragments, whereas the mutatnt allele (1691A) resulted in 157 bp and 130 bp fragments. Analysis for FOO20210A was performed according to the method described by Poort et al. After the digestion of amplified 345 bp fragment with HindIII, the mutant A allele was cleaved in two 322 bp and 23 bp fragments, whereas the normal G allele remained undigested by the restriction enzyme. Digested products were separated by electrophoresis in 1.5% agarose gel. The research determined 7 (7.9%) heterozygotes for Factor V Leiden and 5 (5.7%) heterozygotes for FII20210A. Although the frequency of the mentioned mutations in patients with ischaemic stroke is increased, there is no statistically significant difference. Possible interaction with other risk factors of cerebrovascular diseases require further research.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

POVEZANOST RADA