S76 Abstracts / Journal of Biotechnology 256S (2017) S44–S116
We reviewed files of 1006 patients from our clinic pre-diagnosed with FMF between 2015 and 2016 years. We obtained results from Computation and Administration System of Hospi-tal. Tests were performed by using Qiagen Pyrosequencing Q96 ID Systems (Biotage, Uppsala, Sweden).
We observed pathogenic variants in 53% of our patient and female/male ratio was 1:3. The disease is characterized by recur-rent fever episodes, arthralgia and abdominal pain; and these are the most frequent symptom in mutation-detected patients. M694V, R202Q, E148Q, M680I and V726A are the most frequent variants. K695R mutation is the most frequent variant in patients with the abdominal pain. We detect that the consanguinity ratio was 24%, homozygote variants were detected in 9% of patients.
http://dx.doi.org/10.1016/j.jbiotec.2017.06.1058 Frequency of chromosome variants in families with recurrent pregnancy loss and statistical analysis of infertility
Beyzanur Gunsili1, Ruslan Bayramov2, Sercan
Kenanoglu2,∗, Muhammet Ensar Dogan2, Meltem
Cerrah Gunes2, C¸etin Saatc¸i2, Yusuf Ozkul2,
Munis Dundar2
1Erciyes University, Faculty of Medicine, Kayseri,
Turkey
2Erciyes University, Faculty of Medicine,
Department of Medical Genetics, Kayseri, Turkey
E-mail address:Sercankenan@gmail.com(S. Kenanoglu).
Infertility is defined as pregnancy cannot be achieved despite the unprotected sexual intercourse for 1 year. In this work, we evalu-ated files of 517 couples with infertility and 2239 couples with RPL and described some parameters.
By the light of these data we made statistics of the chromo-some variants and its frequencies which are seen in infertility and RPL cases. We observed different types of heterochromatic varia-tions such as translocavaria-tions like 47,XXX, 46XX,t(6;15); 46XX,t(7;9); 46XX,t(11;21); 46XX,t(10;18); 46XX,t(13;14). Among them, inv(9) is the most observed chromosomal variants with the 0.36%.
In our study we also observed 20% of couples with infertility and 25% of couples with RPL had a consanguineous marriage which makes us suspicious about relation between RPL and consanguin-ity. While we analysed the consanguineous marriage frequencies and years of marriage between 1988–2012 years we observed significant decrease, which proves the importance and benefit of consciousness-raising of population.
http://dx.doi.org/10.1016/j.jbiotec.2017.06.1059 Retrospective results of 18 years prenatal diagnosis cases and its evaluation
Ruslan Bayramov1,∗, Mehmet Serdar Kutuk2,
Sercan Kenanoglu1, Meltem Cerrah Gunes1,
Muhammet Ensar Dogan1, Yusuf Ozkul1, C¸etin
Saatc¸i1, Munis Dundar1
1Erciyes University, Faculty of Medicine,
Department of Medical Genetics, Kayseri, Turkey
2Erciyes University, Faculty of Medicine, Department
of Obstetrics and Gynecology, Kayseri, Turkey
E-mail address:dr.ruslan.bayramov@gmail.com(R. Bayramov). The main parameter of prenatal diagnosis is to diagnose abnormal-ities as early as possible to make the necessary decision. Obtaining
the accurate information about the fetus will assist the family in making their own decision regarding personal, social and ethical principles is the priority of the prenatal diagnosis.
We started our study by exploring results of the samples from 3751 pregnant women after doing CVS, AS and CS with the aim of prenatal diagnosis, between the years of 1997–2015, in the Depart-ment of Gynecology and Obstetrics of Gevher Nesibe Research Hospital and other hospitals. Results were retrospectively studied in terms of the success of cell culture, invasive indications and their genetic results.
In our study we observed the majority of indication for test is a high risk in screening tests (n = 1205, 33.31%). Also, advanced maternal age (n = 1106, 30.58%) and abnormal ultrasonographic examination (n = 766, 21.18%) were at the highest percentages. Chromosome aberrations were detected in 4.98% of cases. Kar-yotype aberration rate was higher in abnormal ultrasonographic examination (10.84%), high risk in screening test (4.11%), and advanced maternal age (3.35%).
http://dx.doi.org/10.1016/j.jbiotec.2017.06.1060 Prenatal diagnosis of a foetus with partial monosomy 4p and partial trisomy 13q Muhammet E. Dogan1, Mehmet Serdar Kutuk2,
Ruslan Bayramov1, Cetin Saatci1, Yusuf Ozkul1,
Munis Dundar1,∗
1Department of Medical Genetics, Faculty of
Medicine, Erciyes University, Kayseri, Turkey
2Department of Obstetrics and Gynaecology, Erciyes
University, Faculty of Medicine, Kayseri, Turkey E-mail address:dr.dogan.m@gmail.com(M.E. Dogan).
Wolf–Hirschhorn syndrome is characterized by growth and mental retardation, distinctive craniofacial features (high forehead, hyper-telorism, broad and flat nasal bridge, prominent glabella known as “Greek helmet” like appearance), congenital hypotonia, midline defects, and seizures. This syndrome is a rare chromosomal disor-der caused by a partial deletion of the short arm of chromosome 4.
Partial trisomy 13q is an uncommon chromosomal abnormality with variable phenotypic expression. Although the aetiologies of these syndromes vary, they share several features including growth retardation, microcephaly, cleft lip and palate, and cardiac anoma-lies.
We present here a female foetus with deletion of 4p15.3→ pter and duplication of 13q22→ qter due to unbalanced segregation of t(4;13)(p15.3;q22) in the father. The foetus had low-set ears, hypertelorism, prominent glabella, frontal bossing, gastroschisis, dysgenesis of the corpus callosum, small cerebellum, staphyloma and single umbilical artery. It is a very rare combination of chro-mosomal abnormalities.
http://dx.doi.org/10.1016/j.jbiotec.2017.06.1061 In vitro cytogenotoxic effect of eucalyptol Hasan Basri ˙Ila1,∗, Esra Ozdemir2
1Department of Biology, Cukurova University,
Adana, Turkey
2Natural and Applied Science Institute, Department
of Biology, Cukurova University, Adana, Turkey E-mail address:ila@cu.edu.tr(H.B. ˙Ila).
Abstracts / Journal of Biotechnology 256S (2017) S44–S116 S77
Eucalyptus also known as cineol, is a colorless organic compound belongs to terpen group. It is a main compound of essential oils of Eucalyptus globulus plant. It is used as a wide range of processed food and some medicines due to certain preferred properties. In vitro genotoxic and cytotoxic effect of eucalyptol was inves-tigated by using cultured human peripheral blood lymphocytes. The various concentrations of eucalyptol (at very low doses) were tested some treatment periods. Eucalyptol did not affect sister chro-matid exchange frequency at any concentrations and treatment periods. Eucalyptol slightly increased chromosome aberration but this increase was not statistically significant. Alike, the test sub-stance did not induce formation of micronuclei. Eucalyptol reduced replication index significantly at highest concentration when com-pared with control and solvent control. Higher concentrations (210 and 280 nL/mL) of eucalyptol reduced mitotic index (MI) signifi-cantly. Same concentrations of eucalyptol reduced nuclear division index. NDI decreased at all concentrations (except the lowest). Eucalyptol did not affect total oxidant or total antioxidant values at the all concentration. As a result, there were not any signifi-cant changes in oxidative stress index. Eucalyptol showed cytotoxic effect in general but this effect is not caused by oxidative stress. http://dx.doi.org/10.1016/j.jbiotec.2017.06.1062
MYC regulated long non-coding RNAs could have roles in development of breast cancer Elvan Tokgun, Onur Tokgun, Serap Kurt, Gaye Tomatır, Hakan Akca∗
Department of Medical Biology, Pamukkale University, Denizli, Turkey
E-mail address:hakanxvy@yandex.com(H. Akca).
MYC deregulation contributes to breast cancer development and progression. Several genetic targets have been identified by activa-tion or repression of MYC. In breast cancer, deregulated expression levels of lncRNAs have been demonstrated to be critical players in development and/or maintenance. In this study, we aimed to determine MYC regulated lncRNAs in breast cancer cells.
MCF7 and MDA-MB-231 cells were infected with lentiviral vec-tors by either knockdown or overexpression of c-MYC. LncRNA cDNA was transcribed from total RNA samples and 90 lncRNAs were evaluated by qRT-PCR.
We first evaluated the expression changes of lncRNAs due to MYC expression changes in breast cancer cell lines. We observed a positive correlation between GAS5 lncRNA and c-MYC. We detected expression changes in p21, CDK6 and cyclinD1 which are GAS5 targets and related to growth arrest/cell cycle progression.
Our results indicated that some of the lncRNAs having tumor suppressor (GAS5, MEG3, lincRNA-p21) and oncogenic roles (PVT1, HOTAIR) are regulated by c-MYC. We also observed that some lncR-NAs such as GAS5 are found to regulate the expression of cell cycle/growth arrest genes (ex: p21, CDK6, cyclinD1) which c-MYC is known to suppress.
http://dx.doi.org/10.1016/j.jbiotec.2017.06.1063
Transfer of plasmid by conjugation in Salmonella typhimurium strains which have extended broad spectrum beta lactamases Serdar Susever1,2
1Near East University, Faculty of Health Sciences,
Nicosia, Cyprus
2Near East University, Experimental Health Research
Center of Health Sciences, Nicosia, Cyprus E-mail address:ssusever2@yahoo.com.
Beta-lactam antibiotics are used in the treatment of Gram-positive and negative bacterial infections. The multiple resistance increases gradually in S. typhimurium strains like in many enteric bacteria because of the widespread use of antibiotics. The aim of this study was to investigate whether or not resistance is transmitted through conjugation from the six S. typhimurium donor strains producing ESBL isolated from feces samples to the recipient E. coli K-12 strain that is resistant against nalidixic acid. Six of the S. Typhimurium strains featuring ESBL were resistant against cefuroxime, ceftria-xone, ampicillin, ampicillin + sulbactam and gentamycin; five of them were resistant against netilmycin; three of them were resis-tant against cefotaxime and amikacin; and one was resisresis-tant against ceftazidime and aztreonam. In the plasmid profile analy-ses of the transconjugant strains obtained, it was found that 36 and 43 MDa-plasmids were conjugative plasmids in two of the strains, and the 45 and 52 MDa-plasmids were conjugative in plasmids. In our study, while the cefuroxime resistance transmission was found as 66.6% in the conjugation experiments, this ratio was found as 100% for ceftriaxone.
http://dx.doi.org/10.1016/j.jbiotec.2017.06.1064 Genetic modifiers of HbF production and effects of elevated HbF levels on clinical phenotype: The case of Turkish Cypriot patients with -thalassemia
Kerem Teralı1,∗, Mahmut C¸erkez ErgOren1, Esra
Akdeniz2
1Faculty of Medicine, Near East University, Nicosia,
Cyprus
2Faculty of Medicine, Marmara University, Istanbul,
Turkey
E-mail address:kerem.terali@gmail.com(K. Teralı).
-Thalassemia is one of the most common monogenic diseases worldwide, with the highest incidence reported in North Cyprus. Its symptomatic forms fall into two categories, namely-thalassemia intermedia (TI) and-thalassemia major (TM), according to their transfusion dependence. Variably increased amounts of postna-tal fepostna-tal hemoglobin (HbF) may compensate for the deficiency of -globin chains, thus ameliorating disease severity. The XmnI or −158 C → T G␥ locus, which is mapped inside the -globin gene cluster, is often proposed as a genetic modifier of HbF biosynthe-sis. Here, using cellulose acetate electrophoresis at alkaline pH and subsequent scanning densitometry, we show that the median HbF levels of patients with TI and patients with TM are significantly different (15.3% versus 3%, respectively). Additionally, the HbF lev-els are negatively related to the total number of transfusions that have previously been recorded at routine visits. Using PCR-RFLP analysis, we also show that the HbF-associated XmnI polymor-phism is not selectively represented in patients with TI (T-allele frequency = 2.24%). Our findings prioritize other proposed genetic loci over XmnI and highlight the importance of developing novel
