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.
Objectives: The aim of this study was to assess the possible the association between +3061 (G>A, rs1143676) missense mutation in exon 24 of the integrin α-4 subunit (ITGA-4) gene and the response to natalizumab in a sample of Iraqi multiple sclerosis patients. Methods: A sample of 59 patients with multiple sclerosis (16 males and 43 females; mean age of 32 years; age range of 15 to 52 years) receiving natalizumab for at least 12 consecutive months were involved in the study between March and August/ 2022. The sample was categorized into two groups according to their response to natalizumab treatment (responders and non-responders). Polymerase chain reaction and Sanger’s sequencing for the extracted deoxyribonucleic acid was pe
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Polycystic syndrome (PCOS) is a considerable infertility disorder in adolescents and adult women in reproductive age. Obesity is a vigorous risk factor related to POCS. This study aims to evaluate the association of obesity and PCOS by investigating several parameters including: anthropological, biochemical (lipid profile, fasting blood sugar, glucose tolerance test, and hormone levels (LH, FSH, LH/FSH ratio, Estradiol2 and Testosterone),and genetic parameters (Fat mass and Obesity associated gene (FTO) polymorphism at rs17817449) in 63 obese and non-obese PCOS women. The biochemical tests were investigated by colorimetric methods while FTO gene polymorphism was detected by PCR–RFLP. Lipid profile, F
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Polycystic syndrome (PCOS) is a considerable infertility disorder in adolescents and adult women in reproductive age. Obesity is a vigorous risk factor related to POCS. This study aims to evaluate the association of obesity and PCOS by investigating several parameters including: anthropological, biochemical (lipid profile, fasting blood sugar, glucose tolerance test, and hormone levels (LH, FSH, LH/FSH ratio, Estradiol2 and Testosterone),and genetic parameters (Fat mass and Obesity associated gene (FTO) polymorphism at rs17817449) in 63 obese and non-obese PCOS women. The biochemical tests were investigated by colorimetric methods while FTO gene polymorp
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Polycystic syndrome (PCOS) is a considerable infertility disorder in adolescents and adult women in reproductive age. Obesity is a vigorous risk factor related to POCS. This study aims to evaluate the association of obesity and PCOS by investigating several parameters including: anthropological, biochemical (lipid profile, fasting blood sugar, glucose tolerance test, and hormone levels (LH, FSH, LH/FSH ratio, Estradiol2 and Testosterone),and genetic parameters (Fat mass and Obesity associated gene (FTO) polymorphism at rs17817449) in 63 obese and non-obese PCOS women. The biochemical tests were investigated by colorimetric methods while FTO gene polymorphism was detected by PCR–RFLP. Lipid profile, F
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This study designed to examine association between-174G/C polymorphism of interleukin-6 gene and phosphate, calcium, vitamin D3, and parathyroid hormone levels in Iraqi patient with chronic kidney disease on maintenance hemodialysis. Seventy chronic renal failure patients (patients group) and 20 healthy subjects (control group) were genotyped for interleukin-6 polymorphism and genotyping was performed by conventional polymerase chain reaction-restriction fragment length polymorphism. No significant differences in phosphate levels were observed in patients and control with different interleukin-6 genotypes. Control had non-significant differences in calcium levels, while patients with GG and CG genotypes displayed significant e
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Opportunistic fungal infections due to the immune- compromised status of renal transplant patients are related to high rates of morbidity and mortality regardless of their minor incidence. Delayed in identification of invasive fungal infections (IFIs), will lead to delayed treatment and results in high mortality in those populations. The study aimed to assess the frequency of invasive fungal infection in kidney transplant recipients by conventional and molecular methods. This study included 100 kidney transplant recipients (KTR) (75 males, and 25 females), collected from the Centre of Kidney Diseases and Transplantation in the Medical City of Baghdad. Blood samples were collected during the period from June 2018 to April 2019. Twent
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Random Amplification of Polymorphic DNA (RAPD) analysis was used in this study to direct the attention toward increasing the efficiency of early diagnosis of breast cancer in clinical laboratories at Iraq using recent PCR-dependent protocols and investigate DNA polymorphisms in addition to the detection of genomic markers. Blood samples were collected from 12 diagnosed females with breast cancer (malignant) patients, 12 females with breast benign tumor and 12 controls (normal females). DNA was extracted and RAPD-PCR was performed. The results showed unique profiles of amplified DNA fragments produced in genomic DNA of breast tumors by an arbitrary primers of A8, A11, A12, A13, A15 and A18. Out of the 6 primers used, 1 primer produced mon
... Show MoreThe present study was conducted to induce mutations by UV- light in Trichoderma harzianum for tolerance of Bavistin fungicides which are commonly used to control soil born phytopathogens. The mycelium growth of T. harzianum T1, T2 was inhibited completely by 30 μg (a.i.) /ml PDA of Bavistin. Two isolates of Trichoderma harzianum T1 and T2 conidia suspensions 104 conidia / ml were irradiated by UV lights at 254, 320, 365nm wavelength for 10, 20, 40, 80, 160 min using UV dark room cabinet and spectrophotometer and cultured on PDA media containing 50, 60, 75, 100, and 150 μg (a.i) / ml Bavistin. A thirty one unstable mutants tolerant to Bavistin were obtained after irradiation the T. harzianum T1, T2 conidia suspension 104 conidia / ml by
... Show MoreRenal function tests are commonly used in clinical practice to look for renal disease, the most common includes the serum urea, uric acid and creatinine. Heart failure patients have a higher incidence of renal function test abnormalities than individuals who do not have heart failure disease. Fifty subjects of adults (male) were divided in to two groups, 25 subjects (healthy) as control (group1) and 25 subjects with heart failure (group 2). Our results indicate that serum uric acid, urea, and creatinine values were significantly elevated (P≤0.05) in patients group (2) compared with healthy group (1). The results also showed, the effect of age categories on uric acid blood urea nitrogen and creatinine values (P≤0.05) and there were no si
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