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: Because of the disturbance in the pituitary gland, growth hormone (GH) secretion will be increased and, as a result, insulin-like growth factor 1 (IGF-1) secretion will be increase as well, leading to a chronic and rare disease called acromegaly disease. One of the most serious complications of acromycaly is diabetes. Insulin resistance, which causes diabetes, occurs in the body because of increased growth hormone secretion Objective: The aim of this work is to estimate some biochemical parameters. These parameters were not studied extensively in the literature such as BALP and LOX and the possibility of using LOX as a new biomarker for acromyalgic patients with diabetic. Patients and Methods: The study was performed on (25) mal
... Show MoreObjective(s): To determine the impact of Chemotherapy upon the quality of life for patients with chronic myeloid
leukemia in Baghdad city.
Methodology: A descriptive study design was carried out The study was initiated from 30 January 2011 to October
2011.A purposive (non–probability) sample consisted of (130) patients with a chronic myeloid leukemia ,Who
attended to Baghdad Teaching Hospital and National Center for Research and Treatment of Hematology. The
sample criteria was the patients who were 18 years old and above, excluding the patients who suffered from
psychological problems and other chronic illnesses .A questionnaire was adopted and developed from European
Organization Research and treatment of Can
Breast carcinoma is one of the greatest popular neoplasms in females. It is a major reason of demise in the world, and it is the first cancer in ranking diagnosed in Iraqi women. This study aimed to determine aminoacyltRAN-synthetase complex interacting multifunctional protein 1 and liver enzymes levels in Iraqi females with stage II breast malignance, and study the effect of chemotherapy (after surgery) on these markers. This study included 50 females patients with stage II breast malignance (before and after surgery and second dose of chemotherapy) attending the Oncology Teaching Hospital in Medical City/ Baghdad, in addition to 20 persons as controller group were chosen without any chronic diseases. Their ages ranged from (30-55) years.
... Show MoreCytokines are a group of immunomodulatory proteins leading to a variety of immune reactions in the human; these cytokines play a significant role in the development of appropriate immune responses against T. gondii. This study aims to reveal the association of toxoplasmosis with serum levels of IL-3, IL-17A, and IL-27 in aborted women. The blood samples of patients and controls were collected from Al-Alawiya Maternity Teaching Hospital/Baghdad/Iraq from 2019 to 2020 for detecting anti-T. gondii antibodies (IgG and IgM) and the level of interleukins by ELISA. The results of TORCH by rapid test for recurrent abortion recorded 25.3% seropositive for anti-Toxoplasma antibodies, and 31.5% seropositive for one or more cases of TORCH test (Cytomeg
... Show MoreThe objective of this study was to assess the levels of antiMullerian hormone (AMH), Follicle stimulating hormone (FSH), testosteron, luteinizing hormone (LH), and estradiol (E2) as markers of spermatogenesis between fertile and infertile males. This study was conducted at (AlRamadi Teaching Hospital for maternity and children) and included 136 males partners of infertile couples. Samples were classified according to the WHO criteria of semen analysis into three groups; Azoospermia, Oligospermia, and normal(control). Assay levels of these hormones were made in the serum and the semen of each sample. The results showed that the level of AMH in serum samples was non-significantly decreased (P>0.05) in both Azo
... Show MoreObjectives: The current study aims at identifying the level of perceived stress among nursing college students and determining the factors associated with stress they have. Methodology: A cross-sectional descriptive study initiated for the period on November 1st, 2014 to May 1st, 2015. The study has been conducted on the undergraduate nursing college students / University of Baghdad. The sample of the study was consisted of (128) students who were selected purposively. The questionnaire of the study was adopted and modified for the present study which consisted of socio-demographic data and the scale of
Lawful protection of the human gene conceded a moral concern regarding the future of existence human. After the discovery of the human genetic map, scientific experiments and research related to the human gene increased, negative applications of genetic engineering in particular that violate essential human rights, the right to human dignity to be specific. These practices represent actual challenges to the existence and diversity of current and future generations. Therefore, the presence of legal rules at the domestic and global levels is an absolute necessity to prohibit these threats and determine civil and criminal accountability for those who infringe any laws related to this issue.
P. aeruginosa is a famous bacterium that causes several diseases and has a high ability to be a multidrug resistant organism that is linked with the formation of biofilm. This study aimed to investigate tssC1 gene role in the resistance of different antibiotics in the presence of biofilm. We constructed biofilm for the isolates under the study and showed the effect of different antibiotics on biofilm formation and maturation. The presence of the gene was detected through achieving PCR reaction. Finally, tssC1 gene variation was determined through sequencing and aligning the sequencing products. The results showed that most of the isolates (80%) formed biofilm that played a role in the resistance of different antibiotics which could be du
... Show MoreP. aeruginosa is a famous bacterium that causes several diseases and has a high ability to be a multidrug resistant organism that is linked with the formation of biofilm. This study aimed to investigate tssC1 gene role in the resistance of different antibiotics in the presence of biofilm. We constructed biofilm for the isolates under the study and showed the effect of different antibiotics on biofilm formation and maturation. The presence of the gene was detected through achieving PCR reaction. Finally, tssC1 gene variation was determined through sequencing and aligning the sequencing products. The results showed that most of the isolates (80%) formed biofilm that played a role in the resistance of different antibiotics which could
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