| Sažetak | Cilj ovog istraživanja bio je utvrditi prisutnost i učestalost mutacija u genima za Faktor V, Faktor II, MTHFR, PAI-1 i ACE čije su mutacije važne u patologiji koagulacije krvi. Također, u cilju nam je bilo utvrditi povezanost određenih mutacija gena s uputnim dijagnozama (abortus habitualis, abortus spontaneus, izostali pobačaj, sterilitas i graviditas abnormalis). Analizirano je ukupno 505 uzoraka krvi pacijentica s navedenim dijagnozama. Od cjelokupnog broja, analizirano je 500 uzoraka za Faktor V i Faktor II, 505 uzoraka za MTHFR, 504 uzorka za PAI-1 i 499 uzoraka za ACE.
Utvrđeno je kako je heterozigotni genotip za Faktor V imalo 5,6% (28/500) ispitanica.
Heterozigotni genotip za Faktor II imalo je 3,2% (16/500) ispitanica, dok je mutirani, homozigotni genotip imalo njih 0,2% (1/500).
Heterozigotni genotip za MTHFR utvrđen je u 44,4% (224/505) ispitanica, dok je mutirani, homozigotni genotip utvrđen u njih 13,6% (69/505).
Delecijski, homozigotni polimorfizam (DD) za PAI-1 utvrđen je u 28,2% (142/504), insercijsko-delecijski (ID) u 50,6%, a insercijski polimorfizam (II) u 21,2% (107/504) ispitanica.
Delecijski, homozigotni polimorfizam (DD) za ACE prisutan je u 30,9% (154/499) ispitanica, insercijsko-delecijski polimorfizam (II) u 47,3% (236/499), a insercijski polimorfizam (II) u 21,8% (109/499) ispitanica.
Statistički značajna razlika, između naših rezultata i onih u radu Fatinija i suradnika, utvrđena je za homozigotni, delecijski genotip (DD) gena za ACE (P=0,019).
Iako nije utvrđena statistički značajna povezanost između određenih mutacija gena i uputnih dijagnoza, čini se da je molekularna DNA analiza tih mutacija važna u dijagnostici, odabiru terapije poremećaja zgrušavanja krvi i spriječavanju gubitaka trudnoća koje su uzrokovane tim poremećajima. |
| Sažetak (engleski) | OBJECTIVES: The aim of this study was to determine the presence and prevalence of mutations in genes for Factor V, Factor II, MTHFR, PAI-1 and ACE, as well as the linkage between mutations of these genes with advisable diagnosis (recurrent abortion, spontaneous abortion, missed abortion, sterilitas and abnormal pregnancy).
PATIENTS AND METHODS: All the analyses were performed in the Laboratory for Molecular Genetics in Split, during the period from 2007. and 2012. A total of 505 blood samples of women (age 18-45) who suffered recurrent abortions, missed abortions, spontaneous abortions, sterility and abnormal pregnancy were analysed for Factor V, Factor II, MTHFR, PAI-1 and ACE.
RESULTS:
The prevalence of heterozygous mutations for Factor V was 5,6%.
The prevalence of heterozygous mutations for Factor II was 3,2% while the prevalence of mutated, homozygous mutations for Factor II was observed in 0,2% of subjects.
The prevalence of heterozygous mutations for MTHFR was 44,4% and the prevalence of mutated, homozygous mutations for MTHFR was observed in 13,6% of women.
The deletion polymorphism for PAI-1 was determined in 28,2% of subjects, an insertion-deletion polymorphism in 50,6% of subjects, while an insertion polymorphism was shown in 21,2% of subjects.
The deletion polymorphism for ACE was determined in 30,9% patients, an insertion-deletion polymorphism in 47,3% patients, while an insertion polymorphism was shown in 21,8% of subjects.
The frequency of deletion polymorphism (DD) of ACE gene was significantly different between our results and the results from literature (P=0,019).
Other results suggest that the prevalence of mutations for Factor V, Factor II, MTHFR and PAI-1 in the tested group of women was similar to those in other studies. |
