This study was aimed to detect and identify genetic mutations in γ-aminobutyric acid receptor β3 subunit encoding gene (GABRB3) and its association with autism spectrum disorders. Forty autistic patients and 25 non-autistic as control group (5 unaffected sibling and 20 unrelated) with age range from 3 – 10 years were included in this study. Chromosomal DNA was extracted from blood samples followed by polymerase chain reaction (PCR) amplification of two targeted regions which include: (exon2-intron2-exon3) region and (exon 6) region of GABRB3 for subsequent DNA sequencing. Identical bands related to the targeted regions were present in all samples. A sample of PCR products of patients and controls were sequenced. Sequencing results revealed the presence of four different single nucleotide polymorphism (SNPs) in four autistic patients (one SNP in exon2, two SNPs in intron 1 and one SNP in the beginning of intron 3) while four different autistic samples and three from control group had no mutations along this region. Exon 6 showed 100 % sequence identity in all samples (seven autistic and three from control group). The translation of nucleotides sequences into amino acid sequence revealed that the SNP in exon 2 caused a change of amino acid in the polypeptide sequence by changing the codon (AGA) which codes for arginine to (AAA) which codes for lysine. The online software tool, RaptorX was used for the prediction of the three dimensional structure of the polypeptides in which exon 2 carrying one SNP (30 a.a.) showed that 5 (16%) positions predicted as disordered, while the structure prediction of polypeptide translated from exon 3 was not obtained due to its small length (22 a.a.). Structure prediction of polypeptide of exon 6 (46 a.a.) showed that (0%) positions predicted as disordered, considering its lack of mutations. These results suggest the association of the detected SNPs with autism, especially the SNP located in exon 2 considering that it changed the polypeptide three dimensional structure, thus it could possibly alter its function. All SNPs are reported for the first time in this study except the one in intron 3 (rs755863611) which was previously reported.
The aim of the current study is to in evaluate the role of SOD activity in the previously reported oxidative stress in our laboratory(1), in the patients with different brain tumors. SOD activity was assayed according to riboflavin/NBT method and its specific activity was calculated in patients with benign and malignant brain tumors and control. Moreover the specific activity was compared in these samples according to gender and the occurrence of disease.Non significant elevation (P > 0.05) in SOD specific activity was observed in tissue of malignant tumors in comparison to that of in benign brain tumors. While a highly significant decrease (P < 0.001) of the specific activity was found in sera of malignant patients group in comparison to t
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Genetic variation was studied in 22 local and imported samples collected from local Iraqi market by using random amplified polymorphic DNA (RAPD-PCR). Five randomly primers set were used in this study. These primers produced 292 bands. Molecular weights of these bands ranged between 1.8 Kb (1800 bp) to 150 bp. The percentage of polymorphic bands is 100%, with one distinguished band which is produced by using C52 primer. The other primers did not produce any distinguished band. The results of Dendrogram of the studied samples depended on RAPD-PCR results by using Jaccard coefficient for genetic similarity was distributed the samples into 8 groups. This Dendrogram revealed a higher similarity between Iraqi/Yousifia green bell pepper and Jo
... Show MoreBackground׃ Halitosis is a common condition and is most often caused by a buildup of bacteria in the mouth because of gum disease, food, or plaque. It can result in anxiety among those affected, it is also associated with depression and symptoms of obsessive compulsive disorder. The aim of this study isto assess the prevalence of self-reported halitosis and associated factors (dental plaque, gingival condition and dental caries) in 15 years old male students in Karbala city in Iraq. Additionally, we studied adolescents’ concern with their own breath and whether anyone had ever told them that they had halitosis. Methods׃ A cross sectional observational survey was conducted to15 years old high school students from public and p
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Pluripotent stem cells (PSC) possess unlimited proliferation, self-renewal, and a differentiation capacity spanning all germ layers. Appropriate culture conditions are important for the maintenance of self-renewal, pluripotency, proliferation, differentiation, and epigenetic states. Oxygen concentrations vary across different human tissues depending on precise cell location and proximity to vascularisation. The bulk of PSC culture-based research is performed in a physiologically hyperoxic, air oxygen (21% O2) environment, with numerous reports now detailing the impact of a physiologic normoxia (physoxia), low oxygen culture in the maintenance of stemness, survival, morphology, proliferation, differentiation potential, and epigenetic
... Show MoreBackground: Serum adiponectin is a hormone of adipose tissue that activateslipid metabolism and exertsphysiological functions. Its level usually fluctuates in several metabolic diseases,including renal insufficiency and diabetes; it loses its protective role against diseases and becomes a potentially risk factor for erythroid abnormalities.
Objectives: The study was designed to assess the association between adiponectin hormone, blood erythroid and various parameters in groups of patients.
Method:The study included 130 patientsand 42 healthy subjects. Parameters of serum adiponectin, erythropoietin (EPO), red blood cells (RBC), hemoglobin (Hb), hematocrit (Hct), ren
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Clopidogrel is a prodrug that must be transformed into an active metabolite by hepatic cytochrome P450 (CYP) isoenzymes to prevent platelet clotting. Polymorphisms of the CYP2C19 gene can cause a reduction or complete loss of CYP2C19 enzyme activity resulting in inhibiting clopidogrel metabolism, effectiveness and increase stroke recurrence risk in ischemic stroke patients. This study aims to investigate the correlation between genetic polymorphisms in CYP2C19*2 and*3 and recurrent risk in patients with ischemic stroke taking clopidogrel 75mg in Kurdistan region –Iraq. This retrospective case-control study was carried out at Kurdistan, Erbil, Medicina medical center, and Rizgary general hospital from January 2021 to
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Cleft / palate is one of the common congenital deformities in craniofacial region, associated with different types of dental anomalies like (Tooth agenesis, impaction, and supernumerary teeth) with marked changes in palatal dimensions. This study aimed to determine the prevalence of teeth agenesis and dental anomalies in cleft lip/palate patients using CBCT, and to compare the palatal dimension of cleft group with control subjects. Twenty-eight cleft cases collected during the period from 2015 to 2022, CBCT images evaluated, the study sample classified into two groups (14 bilateral and 14 unilateral cleft lip/palate) and the non-cleft control group (14 CBCT images). The presence of dental anomalies was assessed in relation to clef
... Show MoreBackground: The ultimate purpose of this prospective study is to estimate and measure swelling associated with surgical extrac¬tion of impacted mandibular third molars in different four post-operative times and to identify the risk factors associated with determination of their risk degree. Material and Methods: In this prospective cohort study 159 consecutive cases in which removal of impacted lower third molars in 107outpatients were evaluated. Five groups of variables have been studied which are regarded as a potential factor for swelling after mandibular third removal which will enable the surgeon to predict and counsel high risk patients in order to offer a preventive strategy. Results: Facial measurements were carried out on 1st, 2
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