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.
New derivatives of pyromellitamic diacids and pyromellitdiimides have been prepared by the reaction of one mole of pyromellitic dianhydride with two moles of aromatic amines, these derivatives were characterized by elemental analysis, FT-IR and melting point.
Background: Morganella morganii is one of the important nosocomial pathogens that may cause urinary tract infection and bacteremia.Methods: The above bacterium was identified from 250 bacterial strains which were isolated from 220 urine samples of patients with urinary tract infection. Antimicrobial susceptibility, by using disk diffusion method, of isolates was tested against some antibiotics.Results: Two M. moganii strains were isolated from female catheterized urinary tract patients, and identified by conventional biochemical tests and API20E system at the first time in Iraq. Both of them produced urease and hemolysin. Antimicrobial susceptibility test showed that these strains are resistant to, amoxicillin-clavulanate, cephalothin, g
... Show MoreOut of Hundred clinical samples, taken from different sources include burn, blood , wound and nasal swabs infections ; 90 isolates developed growth on mannitol salt agar. Among these, 40 (44.4%) were Coagulase positive (Staphylococcus aureus) isolates and 50 (55.5%)belong to coagulase negative staphylococci, in which the last Staphylococcus epidermidis isolates were 30(60%).Antibiotic susceptibility of Staphylococcus epidermidis isolates to 12 antibiotics were determined using disc diffusion method . The results revealed that high resistance to Penecillin G10 and Amoxiclav (Amoxicillin- clavulanic acid) ( 100%) and the high sensitivity to Imipenim (95%). The pattern of minimum inhibitory concentration of S.epidermidis isolates to vancomy
... Show MoreAn immunological technique was investigated for the detection of human semen in forensic analysis.This technique included a preparation of anti-human seminal plasma antibodies, by immunizing rabbits with treated human semen. The human semen was treated with an acid to prevent cross reactivity with other human body fluids. The antibody produced was tested against different animal,s seminal fluid samples (dog, goat ,sheep, cow) and human body fluids( saliva, blood , vaginal fluid, ear wax and human semen). It was found that using this developed technique was only selectively responsed with human semen . The prepered kit was evaluated and tested in Forensic laboratory- Ministry of Health. Finally, results were obtained in a c
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The aim of the study was molecular detection of C. neoformans that isolated from 150 (88 female and 62 male) clinical samples (sputum samples) from pulmonary patients in Baghdad. The diagnoses of Cryptococcus neoformans in samples was done by using direct microscopic examination, culture media and PCR Technology. Microscopic examination and cultured revealed that 65 out of 150 (43.33 %) samples were positive and the others samples were Negative. Results of the genetic diagnosis looking for the fungi causing cryptococcosis using primers specific for ITS gene which were specially designed for this study revealed that 6 (4 %) of sputum samples were positive. In this study used the PCR technology due to the present
... Show MoreLeishmaniasis is endemic ofIraq in both cutaneous and visceral form. The available tools for diagnosis and detection of Leishmaniaare nonspecific and may interfere with other species. In this study, Polymerase Chain Reaction (PCR) has been used to identify Iraqi isolate of visceral leishmaniasis (MHOM/ IQ/2005/MRU15) which a previously diagnosed by classical serological tests. PCR amplificationwas carried out using species-specific primers of Leishmania donovani. Four primer pairs of mini-circle DNA and ITS-1 were used.13A/13B, which is used to identify Leishmaniaas a genus, NM12, LITSR/L5.8S and BHUL18S, were used to detect the sub species of L. donovani.The result ofPCR
... Show MoreBackground: Breast cancer is the most common cancer in Iraq and the United Kingdom. While the disease is frequently diagnosed among middleaged Iraqi women at advanced stages accounting for the second cause of cancer-related deaths, breast cancer often affects elderly British women yielding the highest survival of all registered malignancies in the UK. Objective: To compare the clinical and pathological profiles of breast cancer among Iraqi and British women; correlating age at diagnosis with the tumor characteristics, receptor-defined biomarkers and phenotype patterns. Methods: This comparative retrospective study included the clinical and pathological characteristics of (1,940) consecutive female patients who were diagnosed with invasive b
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Background: Breast Cancer is the most common malignancy among the Iraqi population; the majority of cases are still diagnosed at advanced stages with poor prospects of cure. Early detection through promoting public awareness is one of the promising tools in its control. Objectives: To evaluate the baseline needs for breast cancer awareness in Iraq through exploring level of knowledge, beliefs and behavior towards the disease and highlighting barriers to screening among a sample of Iraqi women complaining of breast cancer. Methodology: Two-hundred samples were enrolled in this study; gathered from the National
Acute lymphoblastic leukemia which developed after first primary solid organ malignancy (1M) considered as secondary acute lymphoblastic leukemia (sALL) and it is rare. The observational study that researches for(sALL) in worldwide and even in Iraq is limited. This study investigated (sALL) among 50 (ALL) Iraqi patients (30 children; 20 adults). Five (4 female;1 male) out of 50 (ALL) patients (10%) were with(sALL) .They asked through questionnaire form about their age , 1M , latency period and immunophenotype .They were in 14-40 years age group and with previous malignancies breast , ovary, lung and thyroid cancers. The median latency period (from 1M to sALL) was 30 months. Four of (sALL) were with B cell immunophenotype , while on
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