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.
Toxoplasmosis is a widespread infection usually caused by Toxoplasma gondii (T. gondii) parasite. It occurs in humans and other warm blooded animals, causing severe problems. It was found that there is an alteration in the trace elements concentrations levels associated with some human diseases. This study aimed to investigate the changes in the concentrations of some trace elements (Mg, Fe , Zn, and Cu) in the sera of 60 immunocompetent patients with chronic toxoplasmosis and 82 healthy individuals as a control group. Measuring the serum level of seropositivity rate of anti-T. gondii antibodies was done by Enzyme Linked Immunosorbent Assay (ELISA) Kit, while the concentrations of trace elements were measured by absorption spectrophotometry
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Systemic lupus erythematosus (SLE) is a heterogeneous autoimmune disease characterized by elevated levels of circulating anti-nuclear autoantibodies and interferon-alpha (INFs-α). Interferon regulatory factor-5 (IRF5) plays an important role in the induction of type I interferon and pro-inflammatory cytokines, and participates in the SLE pathogenesis. This study aimed to investigate the role of IRF5 gene expression levels in a sample of SLE Iraqi patients and its correlation with disease activity, and to identify its diagnostic ability as a biomarker reflecting disease activity. Blood samples were taken from 45 participants diagnosed with SLE cases classified according to the American College of Rheumatology (ACR) criteria. T
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This research attempts to find the association between single nucleotide polymorphism (SNP) of IL2+166 gene (rs2069763) and type 2 diabetes mellitus (T2DM) in a sample of Iraqi patients. A total of 44 patients and 55 apparently healthy volunteers were genotyped for the SNP using polymerase chain reaction test. Three genotypes (GG, GT, and TT) corresponding to two alleles (G and T) were found to have SNP. Both study groups’ genotypes had a good agreement for the analysis of Hardy-Weinberg Equilibrium. The results revealed increased frequencies between the observed and expected GG and TT genotypes and IL2+166 SNP T allele in T2DM patients (40.9 vs. 40.0 %; OR = 1.04; 95% CI, 0.47 - 2.31), whereas the values in the control group were
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This research attempts to find the association between single nucleotide polymorphism (SNP) of IL2+166 gene (rs2069763) and type 2 diabetes mellitus (T2DM) in a sample of Iraqi patients. A total of 44 patients and 55 apparently healthy volunteers were genotyped for the SNP using polymerase chain reaction test. Three genotypes (GG, GT, and TT) corresponding to two alleles (G and T) were found to have SNP. Both study groups’ genotypes had a good agreement for the analysis of Hardy-Weinberg Equilibrium. The results revealed increased frequencies between the observed and expected GG and TT genotypes and IL2+166 SNP T allele in T2DM patients (40.9 vs. 40.0 %; OR = 1.04; 95% CI, 0.47 - 2.31)
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Background: Hypothyroidism is the most abundant thyroid disorder worldwide. For decades, levothyroxine was the main effective pharmacological treatment for hypothyroidism. A variety of factors can influence levothyroxine dose, such as genetic variations. Studying the impact of genetic polymorphisms on the administration of medications was risen remarkably. Different genetic variations were investigated that might affect levothyroxine dose requirements, especially the deiodinase enzymes. Deiodinase type 2 genetic polymorphisms’ impact on levothyroxine dose was studied in different populations.
Objective: To examine the association of the two single nucleotide polymorphism (SNP)s of deiodinase t
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Background: Hypothyroidism is the most abundant thyroid disorder worldwide. For decades, levothyroxine was the main effective pharmacological treatment for hypothyroidism. A variety of factors can influence levothyroxine dose, such as genetic variations. Studying the impact of genetic polymorphisms on the administration of medications was risen remarkably. Different genetic variations were investigated that might affect levothyroxine dose requirements, especially the deiodinase enzymes. Deiodinase type 2 genetic polymorphisms’ impact on levothyroxine dose was studied in different populations. Objective: To examine the association of the two single nucleotide polymorphism (SNP)s of deiodinase type 2 (rs225013 and rs225014) and le
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Background: In recent years, the multidrug-resistant (MDR) Escherichia coli has increased in urinary tract infections (UTIs). One of the highly distributed chromosomally encoded traits of resistance is efflux pump. The current study aimed to investigate the most common members of 5 classes of efflux pumps among uropathogenic E. coil isolates.
Methodology: E. coli isolates were isolated using conventional bacteriology tests and confirmed by the uidA gene. An antibiotic susceptibility test has been done against 25 antibiotics using disc diffusion method. Efflux pump genes have been examined via polymerase chain reaction. Biofilm formation was investigated by a
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