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.
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The genetic diversity was studied in sixteen barley Hordeum vulgar L. species cultivated in Iraq , which are differ in their ability to drought stress tolerance by using random amplified polymorphic DNA polymerase chain reaction (RAPD - PCR ) .Barley species was evaluated to drought stress after treatment the plant seedling at germination stages to different concentration of polyethylene glycol (PEDG6000) . The results showed that the Broaq and Arefat species have the highest tolerance to drought stress in contrast the rest of Barly species like Alkhair, Alwarkaa, Ebaa99, Shoaa, Alrafidain,Sameer Rehana 3 , forat9 , jazeral ,and ebaa7 revealed sensitivity to drought stress . The primes which used RAPD technique
... Show MoreThe angiotensin converting enzyme (ACE) I\D gene polymorphism influences the blood ACE enzyme activity. Renoprotective effect of ACE inhibitors (ACEIs) varies among patients due to genetic variation, particularly in Renin-Angiotensin-Aldosterone System genes. This study investigates the genetic variations of ACE I\D and AGT1RA1166C gene polymorphisms in the antiproteinuric effect of ACEI therapy in type 2 diabetes mellitus (T2DM) patients. This is a cross-sectional study that included 76 T2DM patients who are ACEI users, divided into two groups: T2DM without diabetic kidney disease (DKD) included 31 patients, and T2DM with DKD included 45 patients. Urine samples were taken for measurement of urine albumin and creatinine, then calcul
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It must be emphasized that media is amongst human studies fusing older and more recent sciences together, and that its disclosures are the physics of the new communication. Michio Kaku, a theoretical physicist, in his book “ Visions”, confirms this fact when he says :” As a research physicist, I believe that physicists have been particularly successful at predicting the broad outlines of the future .Professionally, I work in one of the most fundamental areas of physics, the quest to complete Einstein's dream of a "theory of everything." As a result, I am constantly reminded of the ways in which quantum physics touches many of the key discoveries that shaped the twentieth century. “ He then got to the fact that the physical disclo
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Objective (s): To determine factors associated with the pregnancy complications (Maternal age, education,
obstetrical history, gravidity, birth space interval, and smoking).
Methodology: A cross-sectional study conducted at Al- washash & Bab-almoadham primary health care
centers. The sample was (non probability convenient sample) which included (550) pregnant women. The
study started from 1st April 2014 to 1
st of April 2015. The data was collected by direct interview using
special questionnaire to obtain socio-demographic information.
Results: the result shows that mean age of the subjects was 26.5± 4.39 years, 57.8% were housewives, the
sample included 103 premature uterine contractions, 98 pregnancy induce
Background:Oriental sore occurs mostly in the
mediteranian region , North Africa ,and the Middle East .
Rodents are the main reservoir for the parasite . The wet
type caused by L. major is rural and the dry type caused by
L. tropica is urban and humans are presumably the only
reservoir. Sand fly vectors are involved in all forms.
Objectives: This study aimed to show the most
important bacterial infections concomitant with cutaneous
leishmaniasis .
Methods; The study was performed on 75 patients (ages
1-50 years ) from both sexes were attending Skin Diseases
Department of Ramadi General Hospital during the period
extended from January to June 2000. These patients were
clinically diagnosed as patients
Diabetes mellitus is a set of metabolic diseases, the most prevalent of which is chronic hyperglycemia. The culprits include insulin synthesis, insulin action, or both. Osteoporosis is a progressive systemic skeletal disorder defined by decreased bone mass and micro architectural degeneration of bone tissue, resulting in increased bone fragility and fracture risk, according to the World Health Organization (WHO). The degree of Nervosa damage determines how much a diabetic patient's body has been compromised. The current study's goal is an estimation: Age, BMI, FBS, HbA1C, D3, ALP, Ca, P, and Osteocalcin in Iraqi T2DM Women's patients with and without Osteoporosis. Three vitamins are required for Osteocalcin biosynthesis: vitamin K for Gla f
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This research was included (60) patients diagnosed as having Urticaria, (30) patients with acute Urticaria and (30) patients with chronic Urticaria in addition to ( 30) healthy people were chosen as a control. lymphoid cells (Lymphocytes) isolated from patients and healthy controls and added to Terasaki Plates which containing specific antibodies to the( HLA -Class I Antigen) to identify alleles of these antigens. The result showed (HLA-A2) allele increased in its recurrences in patients with acute Urticaria and significantly higher when compared with chronic Urticaria patients and control group, which have Relative Risk (RR) (4.12 , 13.50), respectively, and raise the value of the Etiological Fraction (EF) to (0.45 , 0.55), respectively
... Show MoreDiabetic nephropathy is characterized by persistent microalbuminuria and metabolic changes that decline renal functions. Researchers have been prompted to explore new biomarkers such as KIM-1 and nephrin that may enhance the identification of disease. Objective: To Evaluate biomarker levels of kidney injury molculre-1 (KIM-1) concentration and nephrin as early and sensitive markers of nephropathy in type 2 diabetic patients. Method: One hundred T2DM patients were included in a cross-sectional study at the specialized center for endocrinology and diabetes, Baghdad. The first group includes 50 diabetic nephropathy (DN) patients, and the second group includes 50 T2DM patients without DN. Biochemical and clinical parameters were reported for pa
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