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.
The polycystic ovary syndrome is an endocrine condition. One of the leading causes of female infertility and the most common disorder among women. The work was being carried out on 100 Iraqi women (50 cases confirmed with PCOS and 50 controls). Between October 2019 and March 2020, blood samples were collected from the Advanced Institute of Infertility Diagnosis and Assisted Reproductive Technology at AL-Nahrain University and a private laboratory. ELISA was used to evaluate the biochemical parameters of preptin, FSH, insulin, LH, and CCL 18 in serum samples from the AFIAS-6 (AFIAS Automated Immunoassay System). The findings of the analysis indicate that, as opposed to the control group, values of prolactin (ng/ml), LH (mIU/ml), Preptin (
... Show MoreBackground: Tumor necrosis factor-alpha (TNF-α) and interleukins play important roles in the pathogenesis of rheumatoid arthritis (RA). Genetic research has been employed to find many of the missing connections between genetic risk variations and causal genetic components. Objective: The goal of this study is to look at the genetic variations of TNF-α and interleukins in Iraqi RA patients and see how they relate to disease severity or response to biological therapy. Method: Using specific keywords, the authors conducted a systematic and comprehensive search to identify relevant Iraqi studies examining the genetic variations of TNF-α and interleukins in Iraqi RA patients and how they relate to disease severity or response to biolo
... Show MoreBackground: The genetic polymorphisms of vitamin D receptor (VDR) have an association with thalassemia development, additionally to the environmental elements that elicited the disorder in the genetically predisposed individuals. As well, VDR functions responsible for the regulation of bone metabolism, such its part in immunity. Aim: The sitting study intended to inspect the association between thalassemia disease and the genetic polymorphisms of VDR among the Iraqi population then compared these findings to other findings of thalassemia patients in other different ethnic populations. Materials and methods: The restriction enzymes Bsm-I and Fok-I were applied to determine the genetic polymorphisms frequencies of VDR by a Polymerase Chain Re
... Show MoreAnalyze the relationship between genetic variations in the MTHFR gene at SNPs (rs1801131 and rs1801133) and the therapy outcomes for Iraqi patients with rheumatoid arthritis (RA). The study was conducted on a cohort of 95 RA Iraqi patients. Based on their treatment response, the cohort was divided into two groups: the responder (47 patients) and the nonresponder (48 patients), identified after at least three months of methotrexate (MTX) treatment. A polymerase chain reaction-restriction fragment length polymorphism (PCR–RFLP) technique was employed to analyze the MTHFR variations, specifically at rs1801133 and rs1801131. Overall, rs1801131 followed both codominant and dominate models, in which in
Background: The purpose of the study is to determine whether the pre-treatment clinical systemic variables and optical coherence tomographic (OCT) findings are associated with the subsequent response to the intravitreal Bevacisumab (IVB) in eyes with diabetic macular edema (DME).
Patients and Methods: 38 patients (45 eyes) with refractory diabetic macular edema. ; 16 females, 22 males and mean age was 57.5 year. All patients had DME not responded to other treatments. Complete eye examination; BCVA* (represented as LOGMAR for adequate statistical analysis), slitlamp exam, intraocular pressure measurement, stereoscopic biomicroscopy of the macula, and morphologic patterns of diabetic macular edema demonstra
Breast cancer is the most commonly diagnosed cancer and remains one of the main reasons of cancer-related mortality in women worldwide. KRAS variant rs61764370 (T>G) is associated with an increased risk of occurrence of many cancers, Here The case-control study was accomplished on 135 women including 45 women with breast cancer patients, 45 women with benign breast lesions and 45 healthy women to analyze the association of KRAS variant rs (61764370 T>G) with breast cancer. LCS 6 variant in KRAS gene was amplified by using specific primers, then genotype was detected after sequencing the PCR products. The results showed that the genotype and allele frequency of TT and GT allele of KRAS
... Show MoreObjectives: The study aims to assess the QOL for parents of a child with autism Methodology: A descriptive study was conducted on parents of autistic child in Baghdad city. A purposive (non-probability) sample of (156) parents, (78) mothers and (78) fathers of (78) autistic children who are clients and receive care in the private specialization centers for autism were selected to participated in the current study. The study used a self- administrative questionnaire for data collection. Results: The findings indicated that both parents (mothers and fathers) were participated in this study, and they comprised