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Conclusions: Results : Methods: We prospectively recruited 50 women with recurrent pregnancy loss mean age 33.0 (±5.4) years and 30 healthy controls mean.

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Presentation on theme: "Conclusions: Results : Methods: We prospectively recruited 50 women with recurrent pregnancy loss mean age 33.0 (±5.4) years and 30 healthy controls mean."— Presentation transcript:

1 Conclusions: Results : Methods: We prospectively recruited 50 women with recurrent pregnancy loss mean age 33.0 (±5.4) years and 30 healthy controls mean age 32.8 (±6.3) years from Institution of Health Protection of Women and Motherhood (Sarajevo, Bosnia and Herzegovina). Following DNA isolation from buccal swabs, PCR-RFLP for 20210G>A FII and 677C>T MTHFR and real-time PCR for 1691G>A FV was performed. We obtained a 100% concordance between the genotyped duplicate samples for the SNP. Objectives: From our study we identified 5 GA heterozygotes and none AA homozygotes for 1691G>A FV, 1 heterozygote GA and none AA homozygotes for 20210G>A PT and 15 CT heterozygotes and 5 TT homozygotes for 677C>T MTHFR in women with recurrent pregnancy loss. In control group were none both GA heterozygotes and AA homozygotes for 1691G>A FV, 2 heterozygotes GA and none AA homozygotes for 20210G>A PT and 12 CT heterozygotes and 3 TT homozygotes for 677C>T MTHFR. Frequencies of allele 1691A, 20210A and 677T allele in women with recurrent pregnancy loss were: 8.3%, 3.3% and 41.7%, and in control group: 0%, 3.3% and 30.0%, respectively. In summary, this study provides first genetic data related to prevalence of mentioned mutations in women from Bosnia and Herzegovina with recurrent pregnancy loss. Within the group of women with pregnancy losses found the positive correlation between the frequency of allele 1691A FV and the number of pregnancy loss (R=0.43) Further studies with larger samples are warranted. Maternal genetic risk factors of thrombophilia: 1691G>A FV, 20210G>A FII, 677C>T MTHFR mutations and recurrent pregnancy loss in Bosnian women. Adler Grazyna 1, Mahmutbegovic Emir 2, Valjevac Amina 3, Pawinska-Matecka Anna 4, Garstka Agnieszka 1, Begovic Amra 1, Czerska Ewa 4 Pregnancy loss is a major problem of women's health. About one fifth of all women worldwide have suffered at least one spontaneous pregnancy losses, and 1/20 two or more. Routine gynecological, endocrine and cytogenetic diagnostics could not clarify the reason up to 40% of cases of pregnancy losses in worldwide. Recently, the heritable factors of thrombophilia that may predispose to microthrombosis mainly in trophoblast or placenta leading to obstetrical complications attracts a great attention. We aimed to determine allele frequencies of the 1691G>A FV, 20210G>A FII, 677C>T MTHFR mutations in Bosnian women who experienced at least one pregnancy loss. 1 Department of Gerontobiology, Pomeranian Medical University, Szczecin, Poland 2 Institution of Health Protection of Women and Motherhood Canton Sarajevo, Bosnia and Herzegovina 3 Laboratory for Molecular Medicine, Center for Genetics, Medical Faculty, University of Sarajevo, Bosnia and Herzegovina 4 Central Laboratory, Regional Hospital, Szczecin, Poland

2 The first study of frequency CCR5∆32 mutation in Bosnian and Polish patients with Crohn's disease. G Adler 1, I Zawada 2, NN Salkic 3, E Alibegovic 3, K Skonieczna-Żydecka 1, A Kozłowska-Wiechowska 5, D Bielicki 2 Objectives: Methods: Results : Conclusions: 1 Department of Gerontobiology, Pomeranian Medical University, Zolnierska 48, 71-210 Szczecin, Poland 2 Department of Gastroenterology, Pomeranian Medical University, Unii Lubelskiej 1, 71-252 Szczecin, Poland 3 Department of Gastroenterology and Hepatology, University Clinical Center Tuzla, Trnovac bb, 75 000 Tuzla, Bosnia and Herzegovina 5 Private Health Care SONOMED, Pocztowa 28, 70-361 Szczecin, Poland Crohn's disease (CD) is a multifactorial disease with an environmental factors and genetic background. In the recent period the available data of genetic factors and immune system in susceptibility in Crohn's disease attracts great attention. Chemokines and their receptors participate in the pathogenesis of various inflamatory diseases, where play an important role in migration and activation of monocytes and macrophages. Several studies have confirmed that genetic variants in chemokine receptor CCR5 gene are correlated with susceptibility to CD. Data on prevalence and phenotypic consequences of polymorphism CCR5 gene in CD in Poland and Bosnian populations are sparse. Terefore, the aim of our study was to assess the frequency of CCR5Δ32 allele in Polish and Bosnian patients with Crohn's disease. We prospectively recruited 86 CD patients mean age 34.1 (±13.0) years and 83 controls mean age 35.4 (±12.8) years in Poland and 30 CD patients mean age 44.1 (±14.5) years and 30 healthy controls mean age 61.3 (± 15.2) years in Bosnia and Herzegovina; 229 participants in total. We determined the prevalence of CCR5∆32 mutation and their association with phenotypic expression of the disease according to Montreal classification. Participants were genotyped for CCR5∆32 mutation by polymerase chain reaction (PCR) and follow-up using the Statistical Analysis Package IBM SPSS Statistics (version 21). We verified the correctness of results by performing re- genotyping of randomly selected samples. All results were reliable. We identified 2 heterozygotes in Bosnian and 8 heterozygotes and 2 homozygotes in Polish CD patients, with mean Δ32 allele frequency 3.3% and 7.0%, respectively. In Bosnian and Polish control group we found 8 and 16 heterozygotes, with mean Δ32 allele frequency 13.3% and 9.8%, respectively. Increased frequency of the Δ32 allele in patients with Crohn's disease from Bosnia (p=0.048) but not from Poland was observed. Further studies with larger samples in both countries are warranted.

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