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.
Systemic lupus erythematosus (SLE) is one of the autoimmune disorders, generated by a production of specific autoantibodies against self-antigens before the occurrence of clinical symptoms. The etiology of disease is still unknown, although there have been several infectious agents that have been associated with SLE development, especially in genetically predisposed individuals. Herpes simplex virus-I and -II (HSV-I and -II) and Toxoplasma gondiiare two infectious agents that have been suggested to be involved in SLE etiology. Accordingly, the present study assessed anti- HSV-I and -II and anti-T. gondii IgG and IgM antibodies by enzyme linked immunosorbent assay in sera of 64 SLE female patients and 32 healthy control women. The patients w
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(1)
Background: Several studies linked the development of steroid-resistant nephrotic syndrome (SRNS) to genetic variations in the multidrug resistance 1 (MDR1) gene, though a disparity in findings was underlined among children with different ethnic origins. Objective: This study examined the relationship between MDR1 variants (rs2032582 and rs2032583) and the risk of developing SRNS in Iraqi patients with idiopathic nephrotic syndrome (INS). Methods: This case-control study included children with steroid-sensitive INS (SSNS; n=30) and SRNS (n=30) from the Babylon Hospital for Maternity and Pediatrics. Sanger sequencing was used to determine the participants’ genotypes. Results: The rs2032582 genotypes and alleles were not associated
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Background : Coronary artery disease is theunderlying cause in approximately two thirds of
patients with systolic heart failure ;
Coronary artery angiogriphy may be useful to
define the presence ,
Anatomical characteristics ,and functional
significance of Coronary artery disease in
selected heart failure patients with or without signs
and aymptoms of Coronary artery disease.
Objectives: to verify the clinical usefulness of
coronary angiography (CA) in congestive heart
failure (CHF) patients with no history of ischemic
heart disease and to identify predictive factors for
performing coronary angiography to patients with
congestive heart failure with no obvious ischemia.
Methods :this is a cross-ses
With the growing number of patient’s being diagnosed with Parkinson’s disease and Multiple Sclerosis each year it is becoming ever more important to find the cause for these neurological disorders. The present study attempts to shed light on one of the factors that may play a role as a causative agent in these neurological diseases by finding a correlation between the Herpes simplex virus type 1 and 2 in patients with Parkinson’s disease and multiple sclerosis by detecting the virus in these patients using immunological techniques. Sixty patients with neurological diseases (40 patients with Multiple sclerosis and 20 patients with Parkinson’s disease) who’s ages ranged from (17-76) years have been investigated. Samples wer
... Show MoreBackground: Indeterminate colitis (IC), a term
originated by pathologists to characterize confounding
histopathlogic appearance of resected mucosa, has
become catch phrase for cases in which diagnostic
criteria at all levels elude classification as Crohn's
disease (CD) or ulcerative colitis (UC).
OBJECTIVES: evaluate the prevalence of pANCA
expression in the sera and its isotypes.
Patients and methods: PATIENTS GROUP
consisted of 60 patients (40 males and 20 females)
with indeterminate colitis and their age range was (19-
84 years). CONTROL GROUP consisted of 30 (15
males and 15 females) healthy volunteers and their
age range was (20- 66 years).
Antineutrophil cytoplasmic ( pANCA and cANCA)
te
Background: Hypertension is a chronic medical condition in which the blood pressure in the arteries is elevated, it's classified as either primary (essential) hypertension or secondary hypertension, and it increases the risk of ischemic heart disease, peripheral vascular disease and other cardiovascular diseases. Several classes of medications collectively referred to as antihypertensive drugs like beta blockers, calcium channel blockers, angiotensin converting enzyme (ACE) inhibitors, angiotensin receptor blockers, renin inhibitors and statins (HMG-CoA) reductase inhibitor. Statin medication may have some beneficial effects when subjects have dental plaque or signs of periodontitis as gingival bleeding. The purpose of this study were to as
... Show MoreRheumatoid arthritis (RA) is characterized by persistent joint inflammation, which is a defining feature of this chronic inflammatory condition. Considerable advancements have been made in the field of disease-modifying anti-rheumatic medicines (DMARDs), which effectively mitigate inflammation and forestall further joint deterioration. Anti-tumor necrosis factor-alpha (TNF-α) drugs, which are a class of biological DMARDs (bDMARDs), have been efficaciously employed in the treatment of RA in recent times Adalimumab, a TNF inhibitor, has demonstrated significant efficacy in reducing disease symptoms and halting disease progression in patients with RA. However, its use is associated with major side effects and high costs. In addition,
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Study the role of CoQ10 and IGFBP-1 in obese male patients with diabetic mellitus type 2. ELISA method was used to assay Serum CoQ10 and IGFBP-1. Blood was taken with drawn sample from 30 obese normal patients with age range (40-60) years, 30 diabetic patients with age range (40-60) years at duration of disease (1-5) years and 30 normal healthy patients. The mean difference between T2DM according to CoQ10 (12.5±1.1) was decreased than the mean of IFG (21.8±3.2) (P 0.002) and the mean difference between T2DM according to IGFBPs (0.65±0.06) was decreased than the mean of IFG (3.2±0.3) (P 0.000). While no significant difference between mean age of DM2 patients (55.5±1.06), and IFG (55.6±0.9) (p 0.90), no significant difference bet
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(4)
Epstein-Barr Virus (EBV) infection is associated with broad spectrum of clinical manifestationsdepending on the immune status of the host, To analyze their possible role in the complication ofautoimmune hepatitis, we investigated (30) female patients with autoimmune hepatitis type-1 of(10-40)years and 25 healthy female of same ages(control groups). Both groups were carried outto measure the levels of EBV-CA IgM, IgG Ab, EBV-EA IgM, IgG Ab, and EBV-NA IgM, IgGAb using indirect immunoflourescent assay (IFAT).The prevalence of EBV-CA IgM, IgG Ab were(10%,20%) and EBV-EA IgM, IgG Ab were (10% and20%) respectively, while the prevalence ofEBV-NA IgG Ab was( 3.33%) and there are no prevalence of EBV-NA IgM Ab. There weresignificant differences (P
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