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: periodontitis is a chronic inflammatory disease causing destruction of the tooth supporting structures, initiated by dental plaque and modified by environmental and genetic risk factors. Cyclooxygenase-2 (COX-2) enzyme is responsible for the production of prostaglandin E2, an important mediator in the chronic periodontitis (CP) pathogenesis. Polymorphisms in COX-2 gene have linked to CP in different populations. Aim: To study the association between Cyclooxygenase-2 single nucleotide polymorphism rs689466 (-1195A/G SNP) and chronic periodontitis in a sample of Iraqi population. Methods: One hundred Iraqi subjects divided into two groups: case group consisted of 70 CP patient (35 males and 35 females) with age range 30-55 year
... Show MoreObjective(s): To assess the behavior that impedes the eating of children with autism spectrum disorders in Baghdad city, and find out the relationships between the behaviors that impede eating of autistic children and their demographic characteristics.
Methodology: The study started from the period of 16th September 2019 to the 16th of March 2020. A non-probability (purposive) sample of 80 children with autism spectrum disorders was selected. The questionnaire was designed and composed of two parts: the first part includes the autistic children demographic data, the second part includes scales of behavior that impede eating followed by parents towards autistic child. The reliability of the questionnaire was determined through a pilot
Approximately 15% of all couples all over the world suffer from difficulty conceiving their first child. The word "infertility" is used to describe this problem.
When a couple had regular, unprotected sexual intercourse for a year or longer, it indicates that they have been unsuccessful in their efforts to conceive.
The current investigation aims to find out if there is a relationship between PROTAMIN-1(PRM-1) and INTERLEUKINE-12 (IL-12) gene expressions and their effect on the development of infertility. The current investigation comprised 100 teratozoospermia patients and 100 healthy fertile controls who had their semen examined. Samples were given by Al-Nahrain University's Biotech
... Show MoreGlutathione S-transferases (GSTs) are enzymes that included, in a more range of detoxifying reactions by conjugation of glutathione, to electrophilic material. Polymorphisms n the genes that responsible of GSTs affect, the function of the GSTs. GSTs play an active role in protection of cell against oxidative stress mechanism. Polymorphisms of GSTP1 at codon 105 amino acids forms GSTP1 important site for bind of hydrophobic electrophiles and the substitution of Ile/Val affect substrate specially catalytic activity of the enzyme and may correlate with reach to different diseases in human like diabetes mellitus type2 disease. Correlation between these polymorphisms and changes in the parameters file of diabetic patients has also bee
... Show MoreAutism spectrum disorder (ASD) is a spectrum of behavioral anomalies
characterized by impairment in social interactions and communication deficits. A
potential role for immune dysfunction has been suggested in ASD. To test this
hypothesis, certain cytokines: IL-2, IL-10, IL-12, IL-17A and IFN-γ were
investigated in serum of all participants. The study includes: 39 child (male and
female) aged < 5 to10 years with confirmed diagnosis of autism using standard
assessment, age and gender matched 24 confirmed healthy children and 19 non
autistic siblings used as controls. Serum was isolated and cytokines were detected
using enzyme linked immunosorbent assay (ELISA). The observations indicate a
significant increas
Background: Pervasive Developmental Disorder (PDD) is a term refers to the overarching group of conditions to which autism spectrum disorder (ASD) belongs .
Objective: This study was designed to determine the existing behavior of children with autism in dental sitting, the behavior improvements in recall dental visits and evaluate the improvement in oral hygiene with using specific visual pedagogy chart.
Type of the study: Cross-sectional study.
Methods: Forty children of both genders, ages ranged from 4 – 6 years having primary teeth only were selected whose medical history included a diagnosis
... Show MoreBackground: Toll-like receptors (TLRs) play a significant role in the activation of adaptive immunity and may have an essential role in the development of rheumatoid arthritis (RA). Objectives: To assess the gene expression of TLR4 in individuals with RA compared to healthy individuals. Methods: From July to December 2022. A total of 100 individuals were encompassed in the study, consisting of 50 individuals diagnosed with RA, of whom 42 were females and 8 were males, with an average age of 45.22 years. Additionally, there were 50 healthy control participants, 40 of whom were females and 10 were males, with an average age of 45.64 years. To assess the TLR4 transcript levels, blood samples were collected from each participant, and RN
... Show MoreThis study was carried out to describe the gene expression of the micro RNA 122a gene with the development of diabetes in Iraq. The difference in gene expression between patients and healthy controls was properly considered. In this study, blood was isolated from 121 individuals divided into two groups as follows: 80 samples of diabetic patients and 41 samples from a healthy control. miRNA was isolated and transformed into cDNA, and the expression of mi122a was measured by qRT-PCR. The researchers looked at the relationship between age and gender and the occurrence of diabetes, as well as how they compared to controls. When comparing the mean gene expression level (Ct) of patient groups to the corresponding Ct means in the control group, th
... Show MoreIn this study, Staphylococcus aureus was found to be the causative agent of furunculosis in 64 (27.5%) out of 233 Iraqi patients presented with furunculosis. 16SrRNA gene was located in all isolates. Nevertheless, mecA and lukS-lukF genes were located in 60% and 4% of S. aureus isolates, respectively. Interestingly, the lukS-lukF carrying S. aureus isolates were mecA positive as well.