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: Endometrial Cancer (EC) is the malignant tumor originating from endometrium cell (lining of the uterus). EC incidence and mortality have increased in recent years. Routinely used methods for EC diagnosis and treatment are histopathological tissue culture after surgery and postoperative radiotherapy, however there is still not enough efficient treatment for recurrence or progression of this disease. So, there is a critical need for further EC identification by new biological ways for the prognostic diagnosis of it. Objective: This study aimed to look for ways by which could help in diagnosis of EC before the hysterectomy. Materials and Methods: 55 patients with EC and 57 healthy women were involved in this study (up to 45 years)
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This study was designed to determine the correlation between Y chromosome azoospermia factor (AZF) subregions microdeletions and oligozoospermia in infertile men. Subjects included 50 infertile men with oligozoospermia who had been referred to the Fertility Center and infertility treatment in Kamal Al-Samarrai Hospital\Baghdad health office-Iraq. DNA was extracted from blood samples. Polymerase chain reaction (PCR) amplification of 3 loci spanning the AZFa, AZFb and AZFc subregions of the Y chromosome using sY84, sY127 and sY254 and were performed. The frequency of deletions involving AZFa subregion of the Y-chromosome was found in twelve of the patients (24%) in oligozoospermic infertile Iraqi men. While the other subregion (AZFb and AZ
... Show MorePsoriasis is a common, chronic, immune-mediated skin disease with systemic pro-inflammatory activation. This study was designed to estimate the level of two cytokines, Interleukin-36 (IL-36) and Interleukin-10 (IL-10), in psoriasis female patients. The study was accomplished on 50 Iraqi patients with psoriasis who were referred to the consulting clinic at Al-Yarmouk Teaching Hospital during the period from November 2018 to March 2019. These patients were diagnosed under the supervision of dermatologists. For the purpose of comparison, the study included 30 healthy women as a healthy control group. The serum levels of cytokines were measured using the enzyme-linked immunosorbent technique (ELISA).The results of this study show
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Fifty celiac disease (CD) patients (21 males and 29 females) with an age range of 2-35 years and 25 apparently healthy controls were investigated for 10 autoantibodies (anti-tissue transglutaminase IgA antibody; ATA, anti-tissue transglutaminase IgG antibody; ATG, anti-gliadine IgA antibody; AGA, anti-gliadine IgG antibody; AGG, anti-nuclear antibody; ANA, anti-double strand DNA antibody; AdsDNA, anti-thyroid peroxidase antibody; ATP, anti-phospholipid antibody; APP, anti-myeloperoxidase antibody; AMP and anti-proteinase 3 antibody; AP3) in their sera. Six autoantibodies (ATA, ATG, AGA, AGG, AMP and AP3) showed significant variations between CD patients and controls. The first four antibodies were not detected in sera of controls, while
... Show MoreBACKGROUND: Hepatocyte growth factor (HGF) is a proangiogenic factor that exerts different effects over stem cell survival growth, apoptosis, and adhesion. Its impact on leukemogenesis has been established by many studies. AIM: This study aimed to determine the effect of plasma HGF activity on acute myeloid leukemia (AML) patients at presentation and after remission. PATIENTS AND METHODS: This was a cross-sectional prospective study of 30 newly-diagnosed, adult, and AML patients. All patients received the 7+3 treatment protocol. Patients’ clinical data were taken at presentation, and patients were followed up for 6 months to evaluate the clinical status. Plasma HGF levels were estimated by ELISA based methods in the pa
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Cholesteryl ester transfer protein gene contains some single nucleotide polymorphisms, which have been associated with serum high-density lipoprotein concentration and other lipoproteins. This study is done for determining of cholesteryl ester transfer protein polymorphism and evaluate its effect on serum lipid profile concentrations in some hyperlipidemic patients compared with healthy subjects in Salah Al-din governorate-Iraq. Blood samples were taken from (90) patients suffering from hyperlipidemia, and (70) samples that were apparently healthy controls. Serum lipid concentrations were measured by enzymatic assays. The polymorphism was genotyped using polymerase chain reaction restriction fragment length polymorphism analysis.&n
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Recently on the dermatological fields, the serum levels and the roles of Zn, Cu and Mg have been studied especially in acne vulgaris, but the results were controversial. The aim of the present study is to investigate a relationship between the severity of acne and the serum levels of zinc (Zn), copper (Cu) and magnesium (Mg) and to demonstrate the status of serum levels of zinc, copper, and magnesium in Iraqi male patients with acne vulgaris and to compare it with those of healthy controls.This case controlled study was conducted in the Department of Dermatology and Venerology and in the Poisoning Consultation Center of Baghdad Teaching Hospital between May 2009 to January 2010. Forty- five male patients with acne vulgaris, their a
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In the Iraqi population, a high incidence (82.7%) of rheumatoid arthritis (RA) has been reported among the suspected patient. Many investigators studied the microbial infectious present in Iraqi patients with RA; however, to the best of our knowledge, there is no previous study detected the CMV DNA and antibodies to RA disease. Hence, the current study aimed to investigate the presence of CMV DNA and antibodies in Iraqi RA patients. A total of 58 blood samples were collected from patients with clinical signs of rheumatoid arthritis, along with 32 samples of apparently healthy individuals as a control group. These samples were tested for rheumatoid factor (RF), CMV IgM antibodies and viral DNA during the acute and
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Interleukin -33 is a new member of the IL-1 superfamily of cytokines that is expressed mainly by stromal cells.Its expression is upregulated following pro-inflammatory stimulation.Aim of the present study was to assess the serum IL-33 level and its relationship with inflammatory biomarker CRP in Iraqi females patients with celiac disease. Thirty five patients with celiac disease (CD) and thirty healthy individuals as control group were enrolled in this study,their age ranged (20-35) year.Anti-Gliadin IgA ,IgG and Anti-Tissue IgA ,IgG were estimated in all subjects as diagnostic parameters .ESR and CRP were assayed as inflammatory biomarkers. IL-33 was determined in patients and control groups.The results of the present study revealed a hig
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