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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Background: lip lengthening procedure is one of the surgical options for the correction of gummy smile in patients with short upper lip. Methods: A comparative clinical study was conducted on 15 patients requiring lip lengthening procedure for the esthetic correction of excessive gingival exposure with gummy smile. Scalpel was used in seven patients and diode laser in the remaining eight patients. Under infiltration anesthesia, about one cm strip of mucosa was excised at the vestibular depth and the mucosa of the lip was sutured to the alveolar mucosa. Results: The diode laser group demonstrated less postoperative pain and swelling. Regarding postoperative ecchymosis, three patients in the scalpel group developed ecchymosis and no cases
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Pemphigus vulgaris is an autoimmune disease of the skin and mucous membrane. Renal transplantation is a common procedure in
To study the frequency of skin tumors and infections in patients with pemphigus vulgaris compared with renal transplant recipients and normal controls.
One hundred kidney transplant recipients, their ages ranged from 14 to 70 (46.65 ± 4.74) years
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Diabetes mellitus type II is a disorder of metabolism and complex diseases affected by genetic environmental factors and associated with inflammation. The symptoms of type II diabetes develop gradually, which are associated with increased blood concentration of marker of the endothelial inflammatory factors. The expression of adhesion molecules, including E-selectin, intracellular adhesion molecule-1(ICAM-1) and vascular cell adhesion molecule-1 (VCAM-1) on the surface of vascular endothelial cells to help leukocyte stick to other surrounding tissues. Many researchers have made attempts to determine the significance of particular ABO phenotype for the susceptibility to diseases. Many reports show a strong association with the ABO blood grou
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This study accomplished to determine levels of salivary Alpha-Amylase (sAA) in Iraqi children with positive family history of hypertension, Hypertension was believed to be a risk factor in 18% of all deaths in 2010 (9.4 million globally). This study included one hundred children from primary school aged 6 to 13 years, with a focus in child welfare and family health history, with an emphasis on close relatives' hypertension reputations, with hypertension close relatives record categories identified by 1st and 2nd relatives, after documenting the full details, the burden was assessed for the children's families. The influence of age is confirmed by a correlation study of our own numbers, which shows a positive correlation. The disparity betwe
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Human papillomavirus (HPV) types 16 and 18 cause almost 70% of cervical cancer cases worldwide. Recently, testing for high-risk HPV types have been adopted by clinical practices for the early detection of cervical cancer in conjunction with cytology tests.
Cervical swab samples were collected at the Outpatient Gynecology department of Baghdad Teaching Hospital. These samples consisted of a patient group of 50 samples, and a healthy control group of 10 samples. A papanicolaou test (abbreviated as a Pap test) was also performed for each woman to examine the epithelial cells of both the endocervix and the upper vaginal region. Total DNA (genomic, mitochondrial, and viral) was extracted from cervical swab samples for molecular studie
... Show MoreObjective: To assess the role of tumour necrosis factor alpha level and genotyping in susceptibility to leishmaniasis.Method: The case-control study was conducted from March to July 2021 at Baqubah Teaching Hospital, Diyala, Iraq,and comprised patients of cutaneous leishmaniasis in group A and healthy controls in group B. The serum level andsingle nucleotide polymorphisms of tumour necrosis factor-alpha rs41297589 and rs1800629 were compared betweenthe groups. Data was analysed using SPSS 28.Results: Of the 150 subjects, there were 75(50%) in group A; 39(52%) males and 36(48%) females with mean age23.91±13.14 years. The remaining 75(50%) subjects were in group B; 38(50.7%) males and 37(49.3%) females withmean age 22.84±4.35 years.
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To estimate some of the genetic parameters and genotypic phenotypic coefficient of variation and to find the interaction between varieties and generations in the morphological traits and yield,yield components. Three varieties of Faba beans were treated by nitroso acid mutagen, field experiments were conducted during 2010-2013. The results showed that variances values were different among traits, and the values of genetic and phenotypic variance were greater than the environmental variance values for most of the traits. Heritability in the broad sense has reached the highest value in most of the studied traits for M1 and M2 generations. Heritability in the broad sense varied among the traits. Highest heritability in most of the traits in
... Show MoreThe aim of this study was to investigate the genetic diversity and markers associated with salinity tolerance in three genotypes of wheat created for salt tolerance by plant breeding program, as well as two Iraqi varieties using random amplified polymorphic cDNA (RAPD-PCR) with eight primers were used. The results of RAPD marker revealed that there are genetic variations in several particular segments of various sizes between the selected genotypes and the local varieties with more genetic variation except for (OPG-09) did not appear any band with the selected genotypes and local cultivars. The results of the phylogenetic tree analysis (cluster) based on the presence or absence of DNA amplified for each primer were used to
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