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.
Diabetes mellitus (DM) is a metabolic diseases attributed to lack of insulin secretion, insulin activity, or both. The most serious medical problems in hyperglycemia is diabetic nephropathy (DN), originating from the aggregation of inflammatory cells in high numbers. Chitinase 3 like 1 protein (CH3L1P) is a new biomarker for chronic and severe inflammatory conditions. It has been suggested to have a role in the progress of diabetes-associated micro and macro-vascular complications. This paper aims to measure CH3L1P levels and examine their correlation with albuminuria levels in Iraqi patients with type 2 diabetes mellitus (T2DM). Our study involved 66 T2DM patients
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Background: Coronary artery disease (CAD) is a major contributor to morbidity and mortality worldwide. Early-onset CAD, also known as PCAD, is a severe form of CAD associated with high mortality and a poor prognosis. Early diagnosis is crucial to reducing complications. While hsCRP is an established biomarker for CAD, kalirin is a potential novel biomarker due to its role in promoting smooth muscle proliferation and endothelial dysfunction. Objective: To evaluate the relationship between serum kalirin and hsCRP levels with the presence and severity of PCAD and to compare the diagnostic value of both biomarkers. Method: The study recruited 92 participants into two groups: the PCAD group (46) included patients with confirmed CAD by an
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This study was designed to compare the effect of two types of viral hepatitis A and E (HAV
and HEV) on liver functions in Iraqi individuals by the measurement of biochemical changes
associated with hepatitis.
The study performed on 58 HEV and 66 HAV infected patients compared with 28 healthy
subjects. The measured biochemical tests include total serum bilirubin, serum transminases (ALT
and AST) alkaline phosphatase (ALP) and gamma glutamyl transferase (GGT).
The study showed that adolescent and young adults (17-29) years, were mostly affected by
HEV while children (5-12) years were frequently affected by HAV. The severity of liver damage in
HEV patients was higher than HAV patients as a result of high serum transa
Background: H.pylori colonized gastric mucosal
epithelium will virtually develop gastritis and had the
capacity to persist for decades. Pathogenesis is
dependent upon strain, virulence host genetic
susceptibility, and environmental cofactors. Leptin is
a member of the class 1 cytokine family so altered
leptin production during ifnect and inflammation that
leptin part of the cytokine cascade ,which
orchestrates the defense mechanism.
Objective: Examin the effect of H.pylori infection
on serum leptin level.
Methods: One hundred and thirty(130) Patients
attending the Endoscopic Unit at "Gastroenterology
and Hepatology Teaching Hospital/ Baghdad Medical
City"were included in this study with ages rang
The aim of this study was to investigate the correlation between GRIN2A rs387906637 polymorphism and susceptibility to epilepsy. Blood samples were collected from 85 volunteers, dividing into 60 epilepsy patients (34 males and 26 females) and 25 healthy subjects (19 males and 6 females).The DNA was extracted and GRIN2A rs387906637 polymorphism was analyzed by Real-time PCR using two probes and primers. The results showed no significant differences between patients and control samples; therefore, there are no allelic and genotypic correlations of this SNP with epilepsy. This study indicated that GRIN2A rs387906637 polymorphism is not a risk factor for epilepsy in the studied set of patients.
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One of the most opportunistic mycosis globally is the Candida ssp., which is considered as the most agent that cause nosocomial urinary tract infections (UTIs), oral candidiasis and genitourinary candidiasis. This study included 100 samples of Iraqi subjects suffering from urinary tract infections. Identification of Candida have been done by different methods such as; characteristic of colony on culture, gram stain, and microscopically. This study aimed to isolation and identification of Candida spp from urine sample of UTI patients and find the relevance of ages and blood group of patients with the infections rate, also determine the effect of age on ESR and CRP levels in the patients. The results showed the higher frequency of
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Human cytomegalovirus (HCMV) has a worldwide distribution and extremely common infections. The presence of HCMV genome and antigens has been detected in many kinds of human cancers especially breast cancer. In Iraq, the incidence of breast cancer generally exceeds any other type of malignancies among Iraqi population. The study was performed in the period between October 2016 and June 2017 in Central public health laboratory/Baghdad. It involve samples from 90 women including 60 breast cancer patients, 20 benign tumor patients, and 10 normal breast tissues. A blood sample was obtained from each woman included in this study. Anti-HCMV IgG antibody was presented in 9/10 (90%) of normal women, benign breast tumor patients 19/20 (95%) and malig
... Show MoreHuman Cytomegalovirus (HCMV) is an enveloped ubiquitous ds-DNA virus that has been implicated in several types of malignancies. The current work was conducted in the period extending from (November 2018 to the end of October 2019) and aimed to assess the frequency of glycoprotein N (gN) genotypes of HCMV. A total number of 91serum and plasma specimens were collected to fulfill this purpose from females (71 breast cancer patients, and a control group of 20 females) attending Al-Amal hospital for cancer management and Baghdad teaching hospital. The molecular part of this data was achieved through both PCR and Multiplex PCR for detection of HCMV gN (UL73) entire gene as well as for genotyping. gN was detected in 36/71 (50.7%) of breast cancer
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