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.
Interleukin-33 [IL-33] is a specific ligand for the ST2 receptor, and a member of the
IL-1 family. It is a dual-function protein that acts both as an extracellular alarmin cytokine,
and an as an intracellular nuclear factor participates in maintaining barrier function by
regulating gene expression of IL-33 modulating tumor growth and anti-tumor immunity in
cancer patients. The present study aimed to investigate the role of IL-33 serum level and gene
polymorphism in Iraqi women with breast cancer. Materials and methods: Blood samples
were collected from 66 Iraqi patient women diagnosed with breast cancer, which were divided
into two groups: pre-treatment [PT] and under treatment with chemotherapy [UTC] patients in
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Background: EOS (encoded by the IKZF4 gene) is a member of the zinc finger transcription factor IKaros family, and plays a critical role in Treg suppressor functions, and maintaining Treg stability. IL-6 is a soluble mediator with a pleiotropic effect on inflammation, immune response, and hematopoiesis. Aim: To estimate serum IL-6 level and EOS gene expression in Iraqi patients with psoriasis. Method: Twenty-two patients with psoriasis (8 females, 14 males) with age ranged 18-72 years, were recruited from Baghdad Teaching Hospital, Dermatology Clinic, Baghdad, and 24 healthy donors. The serum levels of IL-6 by ELISA and the gene expression of IKZF4 (EOS gene) by RT-qPCR technique. Results: The results showed a non-significant diffe
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Diabetic foot ulcer (DFU) or Lower limb ulcers are one of the major complications caused by diabetes mellitus especially when patients fail to maintain tight glycemic control. DFU is linked to multiple risk factors along with the genetic factors and ethnicity which play a significant role in the development of DFUs through their effects on multiple aspects of the pathophysiological process. This narrative review aimed to summarize all the previous studies within the last ten years associating gene polymorphism and DFU. Polymorphism associated with vascular endothelial growth factor (rs699947), the G894T polymorphism of the endothelial nitric oxide synthase gene, interleukin-6–174 G>C gene polymorphism, heat shock protein 70 gene polymorph
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The study included the investigation of fungi which associated with heavy animal's leather (Cows and Buffalos) and light (Sheep’s and Goats )through different processing stages (raw hides ,dehairing ,pickling,chrome tanned and stainning or finished stages)there were 10 genera and 25 species in addition to sterile fungi associated with animal leathers which included Alternaria ,Aspergillus,Cladosporium,Fusarium, Mucor , Penicillium , Rhizopus , and Trichoderma .Aspergillus and Penicillium have observed in all leather samples and different processing stages, and that the first time isolate two genera Helminthosporium , Stemphylium form leather for staining stage.
Fluconazole was used to test the susceptibility of Candida albicans isolated from different clinical samples, and to detect mutations in ERG11 gene, and their relationship to fluconazole resistance. Forty-eight isolates of Candida albicans were tested for susceptibility using the disc diffusion method (M-44). ERG11 genes of six isolates were amplified (four resistant, two susceptible) and sequenced. The sequenced genes were analyzed to detect the mutations. Out of 48 isolates of Candida albicans, 4 (8%) were resistant to fluconazole. Sixteen-point mutations were detected included 13 silent mutations, and three missense mutations. The mutations of A945C (E266D) and G1609A (V488I) were found only in susceptible Candida albicans isolates, whil
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The present study conducted on 120 obese males and 50 healthy males, their age ranged from 20-50 years. The patients were divided into 3 groups based on Body Mass Index (BMI) and Central Obesity (CO), it has noticed that there is a significant relation between both indexes. The DNA was isolated from the blood of patients and applies for PCR by using designed primers for exons 1 and 3 of GCG gene. The results showed that there are mutants in exon 1 at locus 9573 (G/C) for 30 patients and locus 9864 (C/-) for 10 patients with X2 = 12.30, also it has fund mutants in exon 3 at locus 5397 (A/G) for 28 patients and locus 5434 (G/A) for 8 patients with X2 = 11.11. These mutants have a high significant effect P≤ 0.001 to cause pathogenicity.
... Show MoreThe present research design examines the relationship between SCARB1 gene expression and the progression of chronic myeloid leukemia (CML) in Iraqi patients. The variations in gene expression between patients with CML and healthy controls were investigated. The gender and age correlations with CML patients were included, as was the association of gene expression folding of the SCARB1 gene with clinical data (WBC, RBC, hemoglobin, platelets, and BCR-ABL gene). The results displayed a significant difference in the mean gene expression level (∆Ct) of the CML group when compared to the matching ∆Ct values in the healthy control group. The gene expression folding of the SCARB1 gene indicates considerable changes in expression, wh
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