| Sažetak | Cilj ovog istraživanja bio je utvrditi prisutnost i učestalost mutacija u genima za
Faktor V, Faktor II, MTHFR, PAI-1 i ACE koje su važne u patologiji koagulacije krvi te
izmjeriti uspješnost liječenja niskomolekularnim heparinom.
Analizirano je ukupno 86 uzoraka krvi pacijentica s navedenim dijagnozama. Od
cjelokupnog broja, analizirano je 85 uzoraka za Faktor V, 83 za Faktor II, 83 uzoraka za
MTHFR, 84 uzorka za PAI-1 i 82 uzoraka za ACE.
Utvrđeno je kako je heterozigotni genotip za Faktor V imalo 11,6% (10/85) ispitanica.
Heterozigotni genotip za Faktor II imalo je 9% (10,4%) ispitanica, dok je mutirani,
homozigotni genotip imalo njih 1,2% (1/85).
Heterozigotni genotip za MTHFR utvrđen je u 53,9% (45/85) ispitanica, dok je
mutirani, homozigotni genotip utvrđen u njih 15,3% (13/85).
Delecijski, homozigotni polimorfizam (DD) za PAI-1 utvrđen je u 35,7% (30/84),
insercijsko-delecijski (ID) u 57,1% (48/84), a insercijski polimorfizam (II) u 7,1% (6/84)
ispitanica.
Delecijski, homozigotni polimorfizam (DD) za ACE prisutan je u 32,4% (24/82)
ispitanica, insercijsko-delecijski polimorfizam (II) u 47,3% (35/82), a insercijski
polimorfizam (II) u 20,2% (15/82) ispitanica.
Pokušali smo i dokazati povezanost između određenih genotipova i ishoda liječenja
LMWH-om, no međutim nismo došli do statistički značajnih rezultata, najvjerojatnije, zbog
malog uzorka.
Usprkos relativno malom uzorku, znakovit je poprilično dobar rezultat liječenja
LMWH-om (78 porođaja i samo 8 pobačaja) u uzorku žena sa habitualnim i sporadičnim
pobačajima te ostalim komplikacijama u prijašnjim trudnoćama. |
| Sažetak (engleski) | OBJECTIVES:
The aim of this study was to determine the presence and prevalence of mutations in
Factor V, Factor II, MTHFR, PAI-1 and ACE genes, as well as the linkage between the
mutations of these genes with pregnancy outcomes in pregnant women treated with low
molecular weight heparin (LWMH).
PATIENTS AND METHODS:
All the analyses were performed in the Laboratory for Molecular Genetics in KBC
Split, during the period between 2010-2012. A total of 86 blood samples of pregnant women
(age 18-45) who were treated with LWMH, due to previous pregnancy complications, were
analysed for Factor V, Factor II, MTHFR, PAI-1 and ACE genetic status.
RESULTS:
The prevalence of heterozygous mutations for Factor and Factor II V were 11,6% and
9%, while the prevalence of homozygous mutations in Factor II was observed in 1,2% of
subjects.
The prevalence of heterozygous status for MTHFR was 53,9% and homozygous
mutations were observed in 15,3% of women.
The deletion polymorphism (4G/4G) for PAI-1 was determined in 35,7% of subjects,
an insertion-deletion polymorphism in 57,1% , while an insertion polymorphism was
observed in 7,1% of subjects.
The deletion polymorphism for ACE was determined in 32,4% patients, an insertiondeletion
polymorphism in 47,3% patients, while an insertion polymorphism was shown in
20,2% of subjects.
Outcomes of the treatment in KBC Split were not significantly different in comprasion
with other studies, niether there were no association between outcomes and specific
genotypes, probably due to small sample size.
Despite to the relatively small sample size, the results of the treatment with LWMH
and pregnancy outcomes in KBC Split were satisfactory (78 births and 8 abortions). |
