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.
Chlamydia pneumoniae is an intracellular gram-negative bacteria associated with lower and upper respiratory tract infections. Several studies, mostly achieved by serological assays, proposed a role for this bacteria in lung cancer risk. Therefore, this study aimed to evaluate the prevalence of Chlamydia pneuomoniae in fresh lung tissues of a sample of Iraqi patients with lung tumors, utilizing polymerase chain reaction (PCR) technique. . Chlamydia pneumoniae DNA was detected in 86.67% of samples. Besides, DNA sequencing of 16S rRNA gene revealed that our isolate is closely related to Chlamydia pneumoniae TW183 strain. It is concluded that Chlamydia pneumoniae is found in fresh l
... Show MoreEndocrine Abnormalities in β-thalassemia major are common disturbing
complications, that need prompt management. Importance of this work was to
evaluate the some biochemical parameters and endocrine hormones related to
the pubertal maturity and fertility status in cases with thalassemia. A sixty patients
[38 males and 22 females] with β - thalassemia major against 30 healthy subjects
[17 males and 13 females] were enrolle . The Blood levels of, Leptin, Vitamin D,
thyroid function test, parathyroid hormone, ghrelin, and sex hormones were
determined in the blood. Body Mass Index (BMI) was also evaluate. Results
showed that besides lower BMI, all hormones assessed were significantly lower in
thalassemia β-major
The study was aimed to investigate the association between IL-10 (-592A/C) gene polymorphism with the progression of type 2 diabeteis mellitus in Basrah Province. This study included (100) subjects (30) person as a control group and (70) patients with T2DM. The patients were distributed as two groups according to Their gender and duration of the disease: group for short duration (≤ 5 years) and group for long duration( >5 years). Lipid profile and glucose concentrations were measured by COBAS analyzer while IL-10 (-592A/C) gene polymorphism was genotyped by using (RFLP-PCR) technique. CC genotype frequency showed a significant decrease while CA genotype revealed significant increase ( p≤0.05) in T2DM c
... Show MoreNon tuberculous mycobacteria (NTM) present in the environment, mainly in water and not transmitted from human to human. The lung is the most common target of NTM infections in human. The symptoms of NTM infection are: fever, weight loss and abdominal pain.
114 sputum samples were examined microscopically using Ziehl-Nelsen stain, all were positive. They cultured on Lowenstein-Jensen media.
The results of this study indicate presence of 3 (2.6%) of rapidly growing mycobacteria, phenotypically they resemble T.B. bacilli. They were diagnosed by biochemical tests, they were positive for catalase and pyruvate, negative for niacin, nitrate reduction test, sensitive for Thiophene-2-carboxyl acid hydrozide test& resistant for Para nitr
Background : Double diabetes (DD) is the term used to describe situations in which a patient exhibits characteristics that are a combination of type 1 diabetes mellitus(T1DM) and type 2 Diabetes Mellitus (T2DM) a large epidemiological study found that 25.5% of people with T1D also had the metabolic syndrome. A new protein hormone called asprosin is predominantly released by white adipose tissue. It was initially discovered in 2016 . Asprosin is important diagnoses marker for insulin resistant in diabetes patients ,additionally is very important denotation about early diagnoses of type 2 diabetes. Objectives: The current study aims to find predictive significance of diagnosis a double diabetes by evaluating the asprosin in the blood serum of
... Show MoreBackground: Hybrid diabetes (or double diabetes, DD) occur when the patient which exhibits characteristics that combine type 1 diabetes (T1DM) and type 2 diabetes (T2DM). Formerly epidemiological studies found that quarter of people with T1D also had the metabolic syndrome. Subfatin, Also called cometin, it is a small (~27kDa) cytokine secreted by protein encoded by a gene called METRNL (simeler of meteorin). is much expressed in skin in the mucosal tissues and activated macrophages. Subfatin has also been described as a hormone that effected in some diseases such as metabolic diseases (including dyslipidemia), type 2 diabetes and obesity. Objectives: The current study objective is evaluating the subfatin in the blood serum of double diabet
... Show MoreToxoplasmosis is the term for infection and disease in man and animal caused by a parasite called Toxoplasma gondii. The more susceptible to infect with toxoplasmosis is the Diabetic patients, due to low level of immunity response. The aim of current study is to investigate the immune status of diabetes mellitus type 2. One hundred and seventy five samples of both diabetes mellitus type 2patients and controls which had been tested by ELISA technique to detect anti-Toxoplasma Abs (IgG and IgM). The positive toxoplasmosis samples were tested to detect the level of TNF alpha and MIG. Results for all samples clarified that seronegative for IgM antibodies while 53 (53%) diabetic patients were seropositive for IgG antibodies and for toxoplasmosis
... Show MoreThe qualified subjects for this study included 33 patients with benign and malignant oral tumors aged 15-75 years and 31 matched age and gender healthy subjects used as control. Proteins measurements included total protein, albumin, globulines in sera and saliva samples, and immunoglobulins (IgG, IgM, IgA) in sera samples of control and patients. Meanwhile, polyacrylamide gel electrophoresis (PAGE) was used to differentiate between protein patterns in both serum and saliva samples among the studied groups. The gel was also stained for glycoprotein to evaluate as well the changes in glycoprotein contents. For total protein, the results revealed a signifigant increase (P?0.01) in both samples (serum and saliva) of patient group. Albumin conce
... Show MoreThe prolactin hormone played role in the many autoimmune disorders. To determine the importance of high levels of prolactin in triggering rheumatoid arthritis, thirty patient's women with hyperprolactinemia aged (20-45) years old have been investigated and compared with twenty five healthy individuals. All the studied groups were carried out to measure the concentration of citrulinated peptide(CCP) by enzyme linked immunosorbent assay( ELISA), antikeratin antibodies (AKA)and antinuclear antibodies(ANA) by indirect fluorescent assay IFAT. There was a significant elevation of CCP concentration compared with control groups (P< 0.05). The percentage of antikeratin antibodies and antinuclear antibodies was (20%, 10%) respectively, and
... Show MoreBackground: ;Hepatitis C virus (HCV) is a major cause of chronic liver disease. Approximately 85% of patients acutely infected with HCV progress to chronic liver disease with persistence of HCV-RNA for more than 6 months Among patients with chronic HCV infection , 15-20% progress to end-stage liver disease main transmission methods of the virus is by : blood and blood products ; sharing needles and acupuncture .Objective: To evaluate Iraqi patients infected with chronic HCV, including their treatment, and factors that affect their response to treatment .Methods :This study was performed at Gastroenterology and Hepatology hospital in Baghdad from January 2011 to March 2012.The study enrolled 90 patients with HCV Antibody positive (Ab +ve)
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