Cytogenetic Investigations and Y-Chromosome Microdeletion Screening in some Infertile Kurdish males In Erbil province/ Iraq

لعقم هو مرض يصيب الجهاز التناسلي يُعرف بالفشل في تحقيق الحمل السريري بعد 12 شهرًا أو أكثر من الجماع المنتظم غير المحمي. في جميع أنحاء العالم ، يؤثر العقم على ما يقرب من 15٪ من جميع الأزواج الذين يحاولون الإنجاب. يعد العقم عند الرجال مسؤولاً عن حوالي 50٪ من حالات العقم عامة. تشوهات الكروموسومات وحذف الكروموسوم Y هي الأسباب الجينية الأكثر شيوعًا لعقم الذكور، أذ تعد متلازمة كلاينفيلتر و الحذف الصغير لعامل فقد النطاف على كروموسوم Y من اهمهما. هدف هذه الدراسة هو التحري عن و مدى انتشار كلاً من التشوهات الكروموسومية وعمليات الحذف الدقيقة على كروموسوم Y في 296 رجلاً كرديًا يعانون من العقم في محافظة أربيل ، من بينهم 289 مريضًا يعانون من نقص النطاف (97.6٪) و 7 مرضى يعانون من قلة النطاف الشديدة (2.4٪) و 50 من الرجال الأصحاء كمجموعة مقارنة. وجد ان 29 مريضا (9.8٪) لديهم تشوهات كروموسومية مختلفة. تم العثور على تشوهات الكروموسومات الأكثر شيوعًا في الكروموسومات الجنسية (93.1٪ ؛ 29/27) ، من بين هذه التشوهات 20 مريضًا (69٪) لديهم متلازمة كلاينفيلتر النمط النووي 47,XXY ، 4 مرضى (13.8٪) لديهم نمط 45X0/46, Xder(Y)، كان لدى مريضان نمط XXY t(11;22)(q25;q13)   وكان لدى مريض واحد (3.4٪) نمط متلازمة تيرنر Mosaic Turner 46XY/45X0. تم اكتشاف تشوهات الكروموسومات الجسمية (6.9٪ ؛ 2/29) في مريضين 45 XY rob (13;14) (q10;q10).  تم العثور على الحذف الصغير لكروموسوم Y في 10 من 289 مريضًا يعانون من فقد النطاف (3.5٪) ، ثلاثة منهم (30٪) لديهم حذف دقيق في منطقة AZFc ، 3 منهم (30٪) لديهم حذف دقيق في منطقة AZFb ، كما كان لدى 3 مرضى آخرين الحذف الصغير في كل من المنطقة من  AZFb و  AZFc ، والمريض الأخير (10٪) كان لديه عمليات حذف صغيرة في المنطقة a و b و AZFc, AZFb, AZFa) c). وكشفت هذه الدراسة  ان كلا من تشوهات الكروموسومات و الحذف الصغير لكروموسوم  Yوجد في 3 مرضى.Infertility is a disease of the reproductive system defined by the failure to achieve a clinical pregnancy after 12 months or more of regular unprotected sexual intercourse. Worldwide, infertility affects approximately 15% of all couples trying to conceive. Male infertility is responsible for about 50% of the infertility cases. Chromosomal abnormalities and Y-chromosome microdeletions are the most common genetic causes of male infertility. Klinefelter syndrome (KS) is the most prevalent factor of the chromosomal abnormality in the infertile male. Azoospermia Factor (AZF) microdeletions located on the Y chromosome are one of the recurrent genetic cause of male infertility. This study aims to investigate the prevalence of chromosomal anomalies and AZF microdeletions in 296 infertile Kurdish men in Erbil province, 289 patients diagnosed as azoospermia (97.6%) and 7 patients as severe oligozoospermia (2.4%) and 50 healthy men as control group. Twenty nine patients (9.8%) had various chromosomal abnormalities. The most common chromosomal abnormalities were found in sex chromosomes (93.1%; 29/27),  among these abnormalities 20 patients (69%) had Klinefelter syndrome 47,XXY karyotype, 4 patients (13.8%) had 45X0/46, Xder(Y), 2 patients (6.9%) had XXY t(11;22)(q25;q13) and 1 patients (3.4%) had Mosaic Turner syndrome 46XY/45X0. The autosomal chromosomal abnormalities (6.9%; 2/29) detected in 2 patients 45, XY, rob (13;14) (q10;q10). Y chromosome microdeletions were found in 10 of 289 patients with azoospermia (3.5%), three of them (30%) had microdeletions in the AZFc region, 3 of them (30%) had microdeletions in the AZFb region, also other 3 patients had microdeletions in the b and c of AZF (AZF b,c) region, and the final one patient (10%) had microdeletions in the all a, b and c (AZF a,b,c) region. Combined Y chromosome microdeletions and chromosomal abnormalities were detected in 3 patients

Future Scenario of Global Climate Map change according to the Köppen -Geiger Climate Classification

Earth’s climate changes rapidly due to the increases in human demands and rapid economic growth. These changes will affect the entire biosphere, mostly in negative ways. Predicting future changes will put us in a better position to minimize their catastrophic effects and to understand how humans can cope with the new changes beforehand. In this research, previous global climate data set observations from 1961-1990 have been used to predict the future climate change scenario for 2010-2039. The data were processed with Idrisi Andes software and the final Köppen-Geiger map was created with ArcGIS software. Based on Köppen climate classification, it was found that areas of Equator, Arid Steppes, and Snow will decrease by 3.9 %, 2.96%, and 0.09%, respectively. While the areas of Warm Temperature and Dessert will increase by 4.5% and 0.75%, respectively. The results of this study provide useful information on future climate Köppen-Geiger maps and areas that will most likely be affected by climate change in the following decade

Molecular genetics of renal cell carcinoma: polybromo 1 and set domain containing 2 genes

Purpose: Renal cell carcinoma (RCC) is genetically characterized by the recurrent loss of the short arm of chromosome 3. Classically, Von Hippel Lindau (VHL) was the only frequently mutated gene in RCC. Recently, several novel frequent mutations of histone modifying and chromatin remodeling genes, including PBRM1 and SETD2, were identified. In the present study, we aimed to determine the possible relationship between PBRM1 and SETD2 genes, and renal cell carcinoma by molecular techniques. Material and Methods: Screening possible mutation and determining mRNA expression level of PBRM1 and SETD2 genes in 20 pairs of tumor and normal samples of RCC patients were performed by nucleotide sequencer and reverse transcription- polymerase chain reaction (RT- PCR). Results: The mRNA expression levels of both genes were significantly reduced in tumor samples when compared with the control samples. As a result of mutational analysis, a single insertion nucleotide polymorphism in exon 12 of SETD2 gene was detected in one patient. Conclusion: Reduced mRNA expression level of PBRM1 and SETD2 might be risk factor for RCC development. Further analysis is warranted to investigate responsible genes rather than PBRM1 and SETD2 in RCC. [Cukurova Med J 2016; 41(1.000): 105-111

Gene expression of P53 and adipoq as diagnostic markers for colorectal cancer

Purpose: Colorectal cancer is the most frequent cause of death and had high mortality rate in Western world. It is from complex, variable and patient- specific interaction between genetic, epigenetic and environmental factors. In the present study, we aimed to investigate the contribution of gene expression of the P53 and Adipoq, both genes to the risk of colorectal cancer. P53 gene is a tumor suppressor gene, encoded protein of P53 is a transcription factor and its pivotal role in maintaining genomic stability. Adipoq gene codes adiponectin. Material and Methods: Total RNA were extracted from paired tumor and normal tissues of 32 colorectal cancer patients. The mRNA expression level of P53 and Adipoq were measured employing semi- quantitative reverse transcription- polymerase chain reaction (RT- PCR). Results: The mRNA expression level of P53 in colorectal cancer was significantly increased according to normal samples (over-expressed). However, the mRNA expression level of Adipoq in colorectal cancer was significantly reduced according to normal samples (down- regulated). Conclusion: In current study, our data suggest those reduced mRNA expression of the Adipoq and increased mRNA expression of P53 might be useful molecular diagnostic markers for colorectal cancer patients. In order to understand the investigation between colorectal cancer and diagnostic biomarker; further analysis is necessary. [Cukurova Med J 2016; 41(2.000): 217-223