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.
Human beta-defenses (hBDs) are antimicrobial peptides involved in innate immune protection, and their association with the risk of respiratory allergy has been proposed. Therefore, this study sought to evaluate this association in allergic rhinitis (AR) and asthma (AS) of Iraqi patients. A case-control study was conducted to investigate serum levels of hBD1, hBD2, hBD3, and hBD4 in 52 AR and 60 AS patients and 61 healthy controls (HC). The hBDs were determined using enzyme-linked immunosorbent assay kits. Results revealed that median levels of hBD1, hBD2, and hBD3 were significantly elevated in the serum of AR and AS patients compared with HC (p < 0.01). Levels of hBD4 were also elevated in AR and AS patients but the differen
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The biomarker significance of three chemokines (CXCL8, CXCL10 and CXCL16) was evaluated in sera of 45 breast cancer (BC) and 28 benign breast lesion (BBL) patients, as well as 20 control women. Clinical stage and tumor expression of estrogen (ER), progesterone (PgR) and human epidermal growth factor receptor-2 (HER-2) receptors were considered in this evaluation. The results demonstrated that CXCL8, CXCL10 and CXCL16 showed a significant increased median in BC and BBL patients compared to control (CXCL8: 47.3 and 25.7 vs. 15.0; CXCL10: 37.6 and 30.7 vs. 13.1; CXCL16; 27.9 and 25.2 vs. 19.2 pg/ml, respectively). The increased levels of CXCL8 and CXCL16 were more pronounced in triple-negative and HER-2 positive p
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The non-specific response of immunity has developed as the initial barrier for human protection from invading pathogens, which comprises certain pathogen recognition receptors (PRR) for instance toll-like receptors (TLRs). Toll like receptor 2 (TLR 2) is capable of recognizing pathogen associated molecular patterns (PAMP) coded by Mycobacterium tuberculosis. To evaluate TLR 2 level in sera of pulmonary tuberculosis (TB) patients. About 120 subjects, involving 80 patients with pulmonary TB including 40 multiple drug resistance (MDR), 20 recently diagnosed pulmonary TB (RD) and 20 recurrent TB patients named as old cases (OC), in addition to 40 apparently healthy individuals were studied as control group. Sera from 68 TB patients
... Show MoreGlobally, breast cancer is the common malignancy affecting women and understanding its associated molecular events could help in disease prevention and management strategies. The present study was set to investigate an association between total antioxidant capacity (TAC) and endothelial nitric oxide synthase (eNOS) polymorphisms with breast cancer. For this purpose, 100 subjects were participated in this work, including 50 female patients diagnosed with breast cancer recruited from Oncology hospital, Baghdad - Iraq and 50 healthy women as a control group. The concentration of antioxidants was measured in the serums collected from blood samples of breast cancer patients and healthy controls. While eNOS SNPs (rs1799983, G894T and rs2070744, T
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Abnormalities in the Lipid and lipoprotein levels are common in the general population and are considered as very important risk- factors for cardiovascular disease .In this context the effect of cholesterol, which is one of the most clinically relevant lipids is very important. Aim of the present study was to determine the levels of GLP-1 and GPCR in non- diabetic dyslipidaemic patients and compare the results with the control group, which may be used as a novel biomarker to predict heart disease in these patients. The study was also aimed to find the relationship between GLP-1 and GPCR with lipid profile and glucagon in the patient group. The study involved 90 non-diabetic dyslipidaemia patients, with 90 healthy controls. The subjects wer
... Show MoreThe (CTLA-4) encodes of the T cell receptor involved in the control of T cell
proliferation and mediates T cell apoptosis. The contribution of CTLA-4 gene
variants to type 1 diabetes has been analyzed in several ethnic groups. In this study,
the association of CTLA-4 +49 A/G polymorphism with type 1 diabetes was
investigated in Egyptian patients. Sixty type 1 diabetic patients (25 males and 35
females) and 60 healthy individuals (33 males and 27 females) subjects formed the
studied populations. CTLA-4 A/G polymorphism at position 49 in exon 1 was
identified using allele specific methods. Patient numbers with A/G, A/A and G/G
genotypes were 45 (75.0 %), 6 (10.0 %) and 9 (15.0%) while in healthy controls,
these w
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In this article, we introduce and study two new families of analytic functions by using strong differential subordinations and superordinations associated with Wanas differential operator/. We also give and establish some important properties of these families.