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.
Background: Sialosis described as a specific consequence of diabetes. In diabetic sialosis, the increased volume of the glands is due to the infiltration of adipose in the parenchyma. The B-scan ultrasonography is a generally accepted tool for determining parotid gland enlargement. Oral health is, to a greater extent, dependent on quality and quantity of saliva, both of which may be altered in diabetics. This study was established to detect the enlargement of parotid gland in diabetic patient and study the changes in physical properties of saliva and its relation with the salivary gland enlargement. Subjects, Materials and Methods: A cross-sectional study with highly specified criteria with ages ranged (20-65) years, male and female subject
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Background: Visfatin is a novel adipokine that mainly secreted by visceral adipose tissue, had an important role in inflammation and immune system. Creatine Kinase (CK) which is an enzyme that is involved in energy metabolism, found in large amounts in myocardium, brain and skeletal tissues. This study is carried out To evaluate the periodontal health status of the study groups (chronic periodontitis and chronic periodontitis with coronary atherosclerosis) and control groups, to measure the salivary levels of visfatin and Creatine Kinase in these groups and compare between them, and to determine the correlations between salivary visfatin and Creatine Kinase levels with the periodontal parameters in the three groups. Materials and Methods: e
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The influence of Toxoplasma gondii on some biochemical parameters has lately gained an increasing attention. The aim of this study was to assess the levels of some biochemical parameters in Toxoplasma positive and negative subjects. An analytical case–control study was achieved in Baghdad for the period from October 2018 until March 2019. Forty nine females participated in this study, with an age range of 18-55 years. The participants were separated into two groups, namely Toxoplasma positive subjects (n=21) and Toxoplasma negative subjects (n=28), based on enzyme-linked immunosorbent assay (ELISA). Blood and serum samples were collected from all subjects to evaluate the serum levels of cholesterol, triglycerides, high density lip
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Patients with decompensated cirrhosis have typically prescribed a combination of therapeutic and prophylactic medications. Polypharmacy increases the probability of medication errors and drug related problems. Clinical pharmacists are highly effective at identifying, resolving, and preventing clinically important drug-related problems in their patients' care. The objectives of the study were the identification and classification of drug-related problems, as well as the discussion of these problems with health care providers (physicians, pharmacists, and nurses) and patients. Reduce their incidence as effectively as possible and educate all research participants on the significance of following their prescribed drug regimen
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Rheumatoid arthritis is an autoimmune disorder that is highly prevalent, leading to gradual cartilage distraction, and therefore is important to diagnose in the early stage. This study aimed to estimate the level of rheumatoid factor (RF) and Anti-citrullinated protein (Anti-ccp) in the serum of female patients. We also investigated several female reproductive hormones in the patients and compared their levels in the premenopausal and postmenopausal phases. The study included 88 female subjects, 50 suffering from signs of rheumatoid arthritis who were attending AL-Yarmouk teaching hospital, Baghdad, Iraq, and 38 without clinical signs of RA as a control group. The ELISA technique was used to estimate all the studied parameters. The resul
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The influence of Toxoplasma gondii on some biochemical parameters has lately gained an increasing attention. The aim of this study was to assess the levels of some biochemical parameters in Toxoplasma positive and negative subjects. An analytical case–control study was achieved in Baghdad for the period from October 2018 until March 2019. Forty nine females participated in this study, with an age range of 18-55 years. The participants were separated into two groups, namely Toxoplasma positive subjects (n=21) and Toxoplasma negative subjects (n=28), based on enzyme-linked immunosorbent assay (ELISA). Blood and serum samples were collected from all subjects to evaluate the serum levels of cholesterol,
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STAG proteins, which are part of the cohesin complex and encoded by the STAG genes, are known as Irr1/Scc3 in yeast and as SA/STAG/stromalin in mammals. There are more variants as there are alternate splice sites, maybe three open reading frames (ORFs) code for three main proteins, including: SA1 (STAG1), SA2 (STAG2) and SA3 (STAG3). The cohesin protein complex has various essential roles in eukaryotic cell biology. This study compared the expression of the STAG1 gene in four different breast cancer cell lines, including: MCF-7, T-47D, MDA-MB-468, and MDA-MB-231 and normal breast tissue. RNA was extracted from these cell lines and mRNA was converted to cDNA, and then expression of the STAG1 gene was quantified by three sets of specific prim
... Show MoreSTAG proteins, which are part of the cohesin complex and encoded by the STAG genes, are known as Irr1/Scc3 in yeast and as SA/STAG/stromalin in mammals. There are more variants as there are alternate splice sites, maybe three open reading frames (ORFs) code for three main proteins, including: SA1 (STAG1), SA2 (STAG2) and SA3 (STAG3). The cohesin protein complex has various essential roles in eukaryotic cell biology. This study compared the expression of the STAG1 gene in four different breast cancer cell lines, including: MCF-7, T-47D, MDA-MB-468, and MDA-MB-231 and normal breast tissue. RNA was extracted from these cell lines and mRNA was converted to cDNA, and then expression of the STAG1 gene was quantified by three sets of specific p
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Background: Excision repair cross-complementing group 2 gene (ERCC2) polymorphisms have been linked as being a risk factor for colorectal cancer (CRC) emergence. However, data from several studies are contradictory. To validate genetic biomarkers of the CRC; the impact of the following ERCC2 polymorphism (rs1799793 and rs238406) was examined on CRC susceptibility among sample of Iraqi population. Methods: A total of 126 subjects were enrolled in this case control study; 78 CRC patients and 48 apparently healthy individuals who are age, gender, smoking status and BMI matched. Polymerase chain reaction (PCR) was used for genotyping, followed by sequencing then the association between genetic polymorphisms and CRC risk was investigate
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