1 2251-9637 Babol University of Medical Sciences 749 Genetics & Disease Association of CpG-SNP and 3'UTR-SNP of WFS1 with the Risk of Type 2 Diabetes Mellitus in an Iranian Population Torkamandi Shahram b Bastami Milad c Ghaedi Hamid d Tarighi Shahriar e Shokri Fazlollah f Javadi Abdolreza g Mirfakhraie Reza h Omrani Mir Davood i b Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. c Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran. d Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. e Department of Medical Laboratory Sciences, School of Allied Medical Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran. f Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. g Department of Pathology, Imam Hossein Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran. h Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. i Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. 1 11 2017 6 4 197 203 02 10 2017 17 11 2017 Type 2 diabetes mellitus (T2DM) is one of the most common multifactorial disorders in Iran. Recent genome wide association studies (GWASs), and functional studies have suggested that WFS1 may predispose individuals to T2DM. However, to date, the possible association of such variants with T2DM in Iranians remained unknown. Here, we investigated the association of the two polymorphisms of WFS1 (rs1801214 a CpG-SNP, and rs1046320 a 3’UTR-SNP) with T2DM in an Iranian population. The study population comprised 432 unrelated Iranian individuals including 220 patients with T2DM, and 211 unrelated healthy control subjects. Genotyping was performed using PCR-RFLP, and confirmed with sequencing.  In a logistic regression analysis, the rs1801214-T allele was associated with a significantly lower risk of T2DM assuming the log-additive model (OR: 0.68, 95% CI: 0.52-0.91, P= 0.007539). Moreover, the G allele of rs1046320 was associated with a lower risk of T2DM assuming the log-additive model (OR: 0.68, 95% CI: 0.50- 0.91, P= 0.008313). Haplotype analysis revealed that haplotypes that carry at least one protective allele are associated with a lower risk of T2DM. This is a first evidence for the association of WFS1 rs1801214, and rs1046320 with T2DM in an Iranian population.
723 Genetics & Disease Novel Mutations in TACSTD2 Gene in Families with Gelatinous Drop-like Corneal Dystrophy (GDLD) Alehabib Elham j Jamshidi Javad k Ghaedi Hamid l Emamalizadeh Babak m Andarva Monavvar n Daftarian Narsis o Rezaei Kanavi Mozhgan p Mohammadi Torbati Peyman Espandar Goldis Alinaghi Somayeh Johari Amir Hossein Saghally Mansoor Mohajerani Fatemeh Darvish Hossein j Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. k Noncommunicable Diseases Research Center, Fasa University of Medical Sciences, Fasa, Iran l Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. m Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran n Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. o Ocular Tissue Engineering Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran p Ocular Tissue Engineering Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran Department of Pathology, Labbafi-Nezhad Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran Department of Pathology, Labbafi-Nezhad Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. 1 11 2017 6 4 204 211 02 08 2017 29 11 2017 In the current study, we conducted a mutation screening of tumor-associated calcium signal transducer 2 (TACSTD2) gene in six consanguineous Iranian families with gelatinous drop-like corneal dystrophy (GDLD), in order to find the causative mutations. Detailed eye examination was performed by ophthalmologist to confirm GDLD in patients. To detect the possible mutations, direct Sanger sequencing was performed for the only exon of TACSTD2 gene, and its boundary regions in all patients. In the patients with GDLD, the corneal surface showed lesions with different shapes from mild to severe forms depending on the progress of the disease. The patients showed grayish corneal deposits as a typical mulberry form, corneal dystrophy along with corneal lipid deposition, and vascularization. Targeted Sanger sequencing in TACSTD2 gene revealed the causative mutations in this gene in all studied families. Our study expanded the mutational spectrum of TACSTD2 which along with the related symptoms could help with the diagnosis, and management of the disease. 717 Genetics & Disease Dysregulated Expression of Long Intergenic Non-coding RNAs (LincRNAs) in Urothelial Bladder Carcinoma Ousati Ashtiani Zahra Pourmand Gholamreza Salami Seyed Alireza Ayati Mohsen Tavakkoly Bazzaz Javad Urology Research Center, Tehran University of Medical Sciences, Tehran, Iran. Urology Research Center, Tehran University of Medical Sciences, Tehran, Iran. Department of Biotechnology, University of Tehran, Tehran, Iran. Uro-Oncology Research Center, Tehran University of Medical Sciences, Tehran, Iran. Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. 1 11 2017 6 4 212 221 22 08 2017 12 11 2017 Long intergenic non-coding RNA (lincRNA) has been introduced as key regulators of diverse biological processes, including transcription, chromatin organization, cell growth and tumorigenesis. With regard to the potential role of lincRNAs in cancer development, one may postulate that differential expression of lincRNAs could be employed as a tool in cancer diagnosis, prognosis, and targeted therapy. In this study, we aimed to explore the putative correlation between the expression levels of two lincRNAs: LINC00152 and LINC01082 in the bladder cancer (BC), in comparison with its adjacent non-cancerous tissue. Fifty Iranian subjects diagnosed with BC, representing in different stages and grades participated in this study.. The mRNA expression levels of the above mentioned lincRNAs were analyzed comparatively in cancerous and their adjacent non-cancerous counterpart tissues, of each subject by Real-Time PCR. The expression levels of LINC00152, and LINC01082 were significantly lower in tumor tissues in comparison with their adjacent normal tissues (P< 0.001). More notably, in the case of LINC01082 the reduced expression was differentiated by the muscle invasiveness pattern of the tumor (P= 0.05). Our study bestow a new finding about the tumor suppressor potentiality of these lincRNAs in BC development that in turn may suggest them as candidate biomarkers. Replicating this study in higher number of BC subjects, coupled with functional analysis, is necessary to investigate inter-connections between these RNAs and cancer development, leading to better understanding of cancer biology. 735 Genetics & Disease Analysis of Plasmodium vivax Apical Membrane Antigen-1 (PvAMA-1) Haplotypes among Iranian Isolates Nedaei Fatemeh Noormohammadi Zahra Naddaf Saied Reza Mohammadi Somayeh Esmaeili Rastaghi Ahmad Reza Department of Parasitology, Pasteur Institute of Iran, Tehran, Iran. Department of Biology, College of Basic Science, Islamic Azad University, Science and Research Branch, Tehran, Iran. Department of Parasitology, Pasteur Institute of Iran, Tehran, Iran. Department of Parasitology, Pasteur Institute of Iran, Tehran, Iran. Department of Parasitology, Pasteur Institute of Iran, Tehran, Iran. 1 11 2017 6 4 222 234 06 09 2017 11 11 2017 Plasmodium vivax apical membrane antigen-1(PvAMA-1) is a surface protein with polymorphic sites. This study was aimed to analyze the polymorphic amino acid residues at PvAMA-1 in different infected age groups. 92 blood samples were collected from south and southeast of Iran. The DNA coding for the domain I (DI), DII, and partial DIII of this antigen was amplified by Nested-PCR, and sequenced. Nucleotide mutations were found in 49 sites and based on the amino acid sequence, 30 variable sites were detected. Age distribution of malaria cases showed that the majority of the patients were between 10 to 30 years old. The scattering plot haplotypes by age showed an increasing incidence rate with age during childhood whereas incidence was the lowest in patients under five years old. Comparison of the polymorphic sites of PvAMA-1 in Iranian isolates with those found in other geographic regions of the world indicated nine common variable positions. In addition, a significant dependence was found between some particular substitutions and age categories. Dependence between particular substitutions and age groups suggests that certain residues in AMA-1 are responsible for clinical attacks in different ages, likely as a result of host immune pressure. The crystal structure of the PvAMA-1 showed that the amino acid substitutions that changed the protein charge were exclusively located in loops and turns where, the interactions with antibodies could occur. These data provide necessary information for an AMA-1 based malaria vaccine design to be effective across all ages. 713 Biomarkers (diagnosis & treatment) Characteristics of Potential Protein Biomarkers Extracted with 10% TCA from Blood Serum of Non-Hodgkin’s Lymphoma and Multiple Myeloma Patients Myronovskij Severyn Shalay Olga Spivak Veronika Stoika Rostyslav Kit Yuriy Department of Regulation of Cell Proliferation and Apoptosis, Institute of Cell Biology, National Academy of Sciences of Ukraine, Lviv, Ukraine. Laboratory of Immunocytology and Genetics of Blood Tumors , Institute of Blood Pathology and Transfusion Medicine, National Academy of Medical Sciences of Ukraine, Lviv, Ukraine. Biological Faculty of Ivan Franko Lviv National University, Lviv, Ukraine. Department of Regulation of Cell Proliferation and Apoptosis, Institute of Cell Biology, National Academy of Sciences of Ukraine, Lviv, Ukraine. Department of Regulation of Cell Proliferation and Apoptosis, Institute of Cell Biology, National Academy of Sciences of Ukraine, Lviv, Ukraine. 1 11 2017 6 4 235 238 14 07 2017 07 10 2017 Blood serum has been extensively explored as a source of the bio-markers [1, 2].  For concentration of minor protein(s) and depletion of abundant blood serum proteins a 2,2,2-trichloroacetic acid (TCA) precipitation procedure is frequently applied [3]. However, a significant amount of proteins may be present in the TCA extracts, and these proteins are often not studied.Recently, we have shown that a TCA-extracted fraction obtained from blood serum of the multiple sclerosis (MS) patients contains two proteins that were identified by the MALDI TOF/TOF as blood serum albumin (BSA) and a short form of the unconventional myosin lc (sMyo1C) [4]. We also demonstrated that the TCA-extracted fractions isolated from blood serum of the MS patients contain IgGs and/or their heavy chains [5]. These proteins have not been detected in the TCA-extracted fractions isolated from blood serum of healthy human donors and patients with the systemic lupus erythematosus or the rheumatoid arthritis.Here we report that the TCA-soluble fraction isolated from blood serum of the non-Hodgkin’s lymphoma contains sMyo1C that have been earlier detected in blood serum of the MS patients, while the blood serum of the multiple myeloma patients, in addition to that protein and albumin, also contains the IgG polypeptides. 747 Histopathology High Grade B- Cell Non- Hodgkin’s Lymphoma Arising in a Mature Cystic Teratoma of the Ovary: A Case Report Afzal Sameen Zaman Samina Department of Histopathology, Chughtai Lab Lahore, Lahore, Pakistan. Department of Histopathology, Chughtai Lab Lahore, Lahore, Pakistan. 1 11 2017 6 4 239 242 27 09 2017 06 01 2018 Mature cystic teratoma (MCT) is the most common type of ovarian germ cell tumor occurring in females of reproductive age. It is typically benign, but rare malignant transformations have been reported in 1-2% of the cases. Among a wide variety of malignancies arising in MCTs, high grade lymphomas are the least common. We present a case of a 45- years -old female with a unilateral adnexal mass. Gross examination revealed a unilocular cyst with a smooth and intact capsule. The cyst lumen was filled with sebaceous material and hair. Except for a 5.0 cm Rokitansky nodule, no other nodule or papillary structures were identified. Microscopic examination revealed an array of mature tissues arising from different germ cell layers and foci of diffuse sheets of large atypical lymphoid cells. These were positive for CD-20 marker, confirming their B lymphoid series cell origin. A final diagnosis of a high grade B cell non-Hodgkin’s lymphoma arising in an ovarian MCT was made. Such cases have been known to be associated with a very poor prognosis, and there are no established criteria for their pre-operative diagnosis. Risk factors for malignant transformation in an MCT including tumor size, post menopausal status, and serum tumor markers are thus analyzed routinely to make a presumptive diagnosis. These coupled with extensive gross sampling of the tumor specimens, and a diligent histopathological examination may aid in an accurate diagnosis of a malignant neoplasm arising in MCTs. 740 Genetics & Disease The Survey of Double Robertsonian Translocation 13q; 14q in the Pedigree of 44; XX Woman: A Case Report Malekpour Nasrin Kormi Seyed Mohammad Amin Azdbakht Mahtab Yousefi Meysam Hassanzadeh-Nazarabadi Mohammad Student Research Assembly, Mashhad University of Medical Sciences, Iran. Cancer Genetics Research Unit, Reza Radiation Oncology Center. Mashhad, Iran. Student Research Assembly, Mashhad University of Medical Sciences, Iran. Student Research Assembly, Mashhad University of Medical Sciences, Iran. Department of Medical Genetics, School Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran. 1 11 2017 6 4 243 248 17 10 2017 28 11 2017 Robertsonian translocations (RBT) are associated with an increased risk of aneuploidy. Single RBT carriers are the most common balanced rearrangement among the carrier couples with the history of spontaneous abortion. However, double Robertsonian translocations (DRBT), in which two balanced RBT occur simultaneously, are an extremely rare condition. A 9-year-old mentally normal girl with multiple skeletal disorders was found to carry a balanced 13/ 14 RBT 45, XX, t(13q; l4q). Three generations of her family, including her parents and her maternal grandparents were investigated for cytogenetic analysis. All of them were phenotypically normal. Her mother appeared in a peculiar karyotype of 44, XX, t (13q; 14q) ×2, while her father revealed a normal karyotype 46, XY. Chromosomal constitution of her grandparents showed that both of them carried this balanced reciprocal translocation 45, XY t (13q; 14q) as well as 45, XX, t (13q;14q). Cytogenetic evaluation on the basis G-banding technique was performed for participants. Since except the 9 years girl, all RBT carriers in this family appeared phenotypically normal, her skeletal disorders might not be due to chromosomal rearrangement. Meanwhile, all offsprings of 44, XX woman are obligatory carriers of this translocation, and should be candidates for prenatal diagnosis (PND) or preimplantation genetic diagnosis (PGD), for their future pregnancies.