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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Vitamin K-dependent protein (VKDP) contributes to the development of lung cancer. The purpose of this research was to better understanding of the role of blood matrix Gla protein (MGP), VKDPs, Malondialdehyde (MDA), Superoxide dismutase (SOD) and Vitamin K (Vit K) in Iraqi patients with lung cancer before and after the first cycle of chemotherapy. Blood samples were collected from Al amal National Hospital for cancer treatment from October 2021 to May 2022, and a total of 80 samples were collected, divided into two groups (40 patient before taking a chemotherapy and 40 patients after taking chemotherapy), ranging in age from 20 to 45 years old. The results showed that although there were highly statistically significant differences in MD
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Breast cancer (BC) is the most common malignancy in women worldwide and a major cause of cancer-related deaths for women in Iraq. This assignment was created to investigate the characteristics of BC diagnosed in Baghdad from 2018 to 2021. A total of eighty-nine of paraffin embedded tissue blocks of different breast tissue tumors (71 females and 18 males) with their data, were collected from archive of Histopathology Department, Teaching Laboratories of Medical City, Al-Yarmouk Teaching Hospital, and a private laboratory in Baghdad-Iraq. The clinical information regarding age, gender, tumor size, tumor stage and grade, lymph nodes metastasis, in addition to the findings of estrogen receptor (ER), progesterone receptor (PR), human
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Obesity is a chronic disease that may have genetic, environmental, and other causes. Obesity is a shortcut to many diseases, such as hypertension, diabetes, atherosclerosis, and other chronic diseases. Oxidative stress increases obesity through free radicals. Glutathione S-transferase (GST) is a metabolic enzyme used to remove toxins. This study aimed to determine GST activity in obese patients as a predictor of oxidative stress and the effectiveness of lipid profiling in obese patients. The study included 139 samples of obese and healthy people (obese group 84 and healthy group 55). Both groups (obese and healthy groups) were divided into four groups based on body mass index. Blood samples were collected from obese males and females in
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Uromodulin is the most abundant protein ordinary excreted in urine which could be used as a biomarker to diagnose kidney diseases. However, evidence suggests that it regulates salt transport, protects against urinary tract infection and kidney stones, and has a role in kidney damage and innate immunity. This study aimed to understand the association of uromodulin gene rs13332878 with chronic kidney disease. More than 100 people were selected for the study and the samples collected from the under study subjects were divided into two groups. 70 chosen subjects were under the dialysis with kidney failure, and aged between 18-88 years. The second group included 30 samples from healthy individuals, used as control. One of t
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Background: CYP1A1 gene polymorphisms and tobacco smoking are among several risk factors for various types of cancers, but their influence on breast cancer remains controversial. We analyzed the possible association of CYP1A1 gene polymorphisms and tobacco smoking-related breast cancer in women from Iraq. Materials and methods: In this case-control study, gene polymorphism of CYP1A1 gene (CYP1A1m1, T6235C and CYP1A1m2, A4889G) of 199 histologically verified breast cancer patients' and 160 cancer-free control women's specimens were performed by using PCR-based restriction fragment length polymorphism. Results: Three genotype frequencies (TT, TC, and CC) of CYP1A1m1T/C appeared in 16.1, 29.6, and 54.3% of women with breast cancer, respectiv
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The Electrocardiogram records the heart's electrical signals. It is a practice; a painless diagnostic procedure used to rapidly diagnose and monitor heart problems. The ECG is an easy, noninvasive method for diagnosing various common heart conditions. Due to its unique advantages that other humans do not share, in addition to the fact that the heart's electrical activity may be easily detected from the body's surface, security is another area of concern. On this basis, it has become apparent that there are essential steps of pre-processing to deal with data of an electrical nature, signals, and prepare them for use in Biometric systems. Since it depends on the structure and function of the heart, it can be utilized as a biometric attribute
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