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https://read.qxmd.com/read/30760406/origin-of-the-t790m-mutation-and-its-impact-on-the-clinical-outcomes-of-patients-with-lung-adenocarcinoma-receiving-egfr-tkis
#1
Yujie Dong, Zhen Zhou, Jianguo Wang, Li Ma, Zichen Liu, Yuxuan Wang, Jing Song, Shucai Zhang, Nanying Che
OBJECTIVE: Recently, a low frequency of de novo T790M mutations existing in tumor tissues before TKIs therapy has been reported. However, the origin of T790M and its impact on clinical outcomes is still being debated. This study aimed to use highly sensitive methods to detect T790M before and after TKIs therapy and investigated the correlation of T790M with clinical prognosis. PATIENTS AND METHODS: Matched tumor samples before and after treatment were collected from 61 lung adenocarcinoma (LAC) patients in Beijing Chest Hospital between June 2014 to October 2017...
January 30, 2019: Pathology, Research and Practice
https://read.qxmd.com/read/30677225/developing-a-new-qpcr-based-system-for-screening-mutation
#2
Junjie Zhu, Yanfeng Zhao, Ming Liu, Diego Gonzalez-Rivas, Xinnan Xu, Weijing Cai, Huiwei Qi, Lei Dai, Zijian Wang, Xiao Song, Gening Jiang, Yang Yang
An accurate genotyping analysis is one of the critical prerequisites for lung cancer targeted therapy. Here, a quantitative polymerase chain reaction (qPCR)-based mutation detection system, mutation-selected amplification-specific system PCR (MASS-PCR), is developed. The specific primers and probes used in MASS-PCR exactly match with the mutant sequence that only allows mutant gene to emit the fluorescence peak. To determine the sensitivity of MASS-PCR, 717 lung cancer specimens, 61 formalin-fixed paraffin-embedded (FFPE) tissues, and 656 fresh reaction tissues are collected and undergo mutation detection of lung cancer driver genes (EGFR, KRAS, BRAF, HER2, MET, ALK, and ROS1)...
January 24, 2019: Small
https://read.qxmd.com/read/30671185/evaluation-of-fto-rs9939609-and-mc4r-rs17782313-polymorphisms-as-prognostic-biomarkers-of-obesity-a-population-based-cross-sectional-study
#3
Mina Mozafarizadeh, Mohsen Mohammadi, Soha Sadeghi, Morteza Hadizadeh, Tayebe Talebzade, Massoud Houshmand
Objectives: Obesity is a significant risk factor for a number of chronic diseases, including diabetes, cardiovascular diseases, and cancer. Obesity usually results from a combination of causes and contributing factors, including genetics and lifestyle choices. Many studies have shown an association of single nucleotide polymorphisms (SNPs) in the fat mass and obesity-associated ( FTO ) and the melanocortin-4 receptor ( MC4R ) genes with body mass index (BMI). Therefore, recognizing the main genes and their relevant genetic variants will aid prediction of obesity risk...
January 2019: Oman Medical Journal
https://read.qxmd.com/read/30656224/rapid-and-reliable-identification-of-insulin-2-gene-mutation-in-akita-diabetic-mice-by-a-tetra-primer-arms-pcr-method
#4
Rambabu Undi, Hui-Ying Lim, Weidong Wang
The Akita mouse, one of the most frequently used animal models for the study of diabetes mellitus and its complications, carries a heterozygous missense mutation (C96Y) in the insulin 2 (Ins2) gene that results in proinsulin misfolding in the endoplasmic reticulum (ER), ER stress, pancreatic beta cell death and ultimately diabetes. Maintenance of Akita mice entails genotyping for the identification of the heterozygous Akita mutation. Current genotyping methods for the Akita mouse strain are time consuming, expensive, or needing special device...
January 2019: Heliyon
https://read.qxmd.com/read/30623696/a-unique-interaction-of-ivs-i-1-g-a-hba2-c-95-1g-a-with-hb-adana-hba2-c-179g-a-presenting-as-transfusion-dependent-%C3%AE-thalassemia
#5
Hafiza Alauddin, Khairina Kamarudin, Tang Yee Loong, Raja Zahratul Azma, Azlin Ithnin, Norunaluwar Jalil, Noor-Farisah Razak, Danny Koh-Xuan-Rong, Endom Ismail, Loh C-Khai, Zarina Abdul Latiff, Hamidah Alias, Ainoon Othman
Nondeletional α-globin mutations are known to cause more serious clinical effects than deletional ones. A rare IVS-I-1 (G>A) (HBA2: c.95+1G>A) donor splice site mutation interferes with normal splicing of pre mRNA and results in activation of a cryptic splice site as well as a frameshift mutation. Hb Adana [HBA2: c.179G>A (or HBA1)] is a highly unstable variant hemoglobin (Hb) resulting from a mutation at codon 59 on the HBA2 or HBA1 gene, recognized to cause severe α-thalassemia (α-thal) syndromes...
January 9, 2019: Hemoglobin
https://read.qxmd.com/read/30612269/clinical-significance-of-multiple-gene-detection-with-a-22-gene-panel-in-formalin-fixed-paraffin-embedded-specimens-of-207-colorectal-cancer-patients
#6
Xian Hua Gao, Guan Yu Yu, Yong Gang Hong, Wei Lian, Hanumant Chouhan, Yi Xu, Lian Jie Liu, Chen Guang Bai, Wei Zhang
BACKGROUND: Simultaneous detection of multiple molecular biomarkers is helpful in the prediction of treatment response and prognosis for colorectal cancer (CRC) patients. METHODS: A 22-gene panel consisting of 103 hotspot regions was utilized in the formalin-fixed paraffin-embedded (FFPE) tissue samples of 207 CRC patients, using the next-generation sequencing (NGS)-based multiplex PCR technique. Those 22 genes included AKT1, ALK, BRAF, CTNNB1, DDR2, EGFR, ERBB2, ERBB4, FBXW7, FGFR1, FGFR2, FGFR3, KRAS, MAP2K1, MET, NOTCH1, NRAS, PIK3CA, PTEN, SMAD4, STK11, and TP53...
January 5, 2019: International Journal of Clinical Oncology
https://read.qxmd.com/read/30583668/analysis-of-polymorphism-and-expression-profile-of-asic1-and-il-6-genes-in-patients-with-gastric-cancer
#7
Abdulkuddous Heydari-Mehrabadi, Dor Mohammad Kordi Tamandani, Taybeh Baranzehi, Simin Hemati
Gastric cancer is one of the most common upper gastrointestinal malignancies. Some Iranian provinces, such as in the northern and northwestern areas, are at a high risk, whereas the central and western provinces are at a medium and the southern regions at low risk. This study was carried out to estimate the impact of the expression patterns of ASIC1 and IL-6 genes and the IL-6rs-174 and ASIC1rs 75624685 polymorphisms in the pathogenesis of gastric cancer. Materials and methods: Tetra-ARMS PCR was employed to analyze the polymorphism status of the ASIC1 and IL-6 genes with 85 paraffin-embedded tissue blocks from cases and 117 normal blood samples as controls...
December 25, 2018: Asian Pacific Journal of Cancer Prevention: APJCP
https://read.qxmd.com/read/30583664/association-of-single-nucleotide-polymorphisms-snps-in-genes-encoding-for-folate-metabolising-enzymes-with-glioma-and-meningioma-in-indian-population
#8
Rajani Kumawat, Srinivas H Gowda, Ekta Debnath, Safoora Rashid, Ram Niwas, Yakhlesh Gupta, Ashish Datta Upadaya, Ashish Suri, P Sarat Chandra, Deepak K Gupta, Ramakrishnan Lakshmy, Chitra Sarkar, Subrata Sinha, Kunzang Chosdol
Background: The association of primary brain tumors with Single Nucleotide polymorphisms (SNPs) in genes of folate metabolising enzymes have been reported to vary among different ethnic population. Here, we have studied the association of SNPs of folate metabolizing genes with the primary brain tumors (glioma and meningioma) in North Indian population. Methods: SNPs of genes coding for folate metabolizing enzymes was carried out in 288 study population from North India [Glioma (n=108), Meningioma (n=76) and healthy-control (n=104)]...
December 25, 2018: Asian Pacific Journal of Cancer Prevention: APJCP
https://read.qxmd.com/read/30582396/targeted-mutation-analysis-of-the-slc26a4-myo6-pjvk-and-cdh23-genes-in-iranian-patients-with-ar-nonsyndromic-hearing-loss
#9
Maliheh Alimardani, Seyed Mojtaba Hosseini, Mahmoud Shekari Khaniani, Mohsen Rajati Haghi, Atieh Eslahi, Mashsa Farjami, Javad Chezgi, Sima Mansoori Derakhshan, Majid Mojarrad
BACKGROUND: Hearing loss (HL) is the most prevalent sensory disorder. The over 100 genes implicated in autosomal recessive nonsyndromic hearing loss (ARNSHL) makes it difficult to analyze and determine the accurate genetic causes of hearing loss. We sought to de?ne the frequency of seven hearing loss-Causing causing genetic Variants in four genes in an Iranian population with hearing loss. MATERIALS AND METHODS: One hundred ARNSHL patients with normal GJB2/GJB6 genes were included, and targeted mutations in SLC26A4, MYO6, PJVK and CDH23 genes were analyzed by ARMS-PCR...
December 23, 2018: Fetal and Pediatric Pathology
https://read.qxmd.com/read/30581791/nitric-oxide-synthase-2-polymorphisms-rs2779248t-c-and-rs1137933c-t-and-the-risk-of-type-2-diabetes-in-zahedan-southeastern-iran
#10
Yasaman Garme, Mahdiyeh Moudi, Ramin Saravani, Hamidreza Galavi
Background: Nitric oxide (NO) has been associated with insulin resistance and type 2 diabetes (T2D). NO is synthesized enzymatically from l-arginine (l-Arg) by three NO synthase (NOS) isoforms, Neuronal NOS (nNOS or NOS1), Inducible NOS (iNOS or NOS2), and Endothelial NOS (eNOS or NOS3). The impact of NOS2 gene polymorphism was investigated on the susceptibility of T2D in a sample of Iranian population (Southeastern of Iran). Methods: In 2015, the present case-control study was conducted on 152 T2D patients and 157 healthy control subjects (HCs) referring to Bu-ali Hospital of Zahedan, eastern Iran...
November 2018: Iranian Journal of Public Health
https://read.qxmd.com/read/30539710/microrna-224-rs188519172-a-g-gene-variability-is-associated-with-a-decreased-susceptibility-to-coronary-artery-disease-a-case-control-study
#11
Rashid Mir, Chandan K Jha, Imadeldin Elfaki, Suriya Rehman, Jamsheed Javid, Naina Khullar, Shaheena Banu, S M S Chahal
AIM: The microRNAs regulate expression of multiple genes involved in diseases such as cancer, diabetes and cardiovascular disease. In this study we have investigated the association between the miR-224 gene polymorphism (rs188519172A>G) and susceptibility of coronary artery disease CAD. METHODOLOGY: Hundred CAD patients and 100-matched healthy control were included. Genotyping of the miR-224 (rs188519172A>G) polymorphism was performed using Amplification refractory mutation system PCR method (ARMS-PCR)...
December 11, 2018: MicroRNA
https://read.qxmd.com/read/30539064/multiplex-amplification-refractory-mutation-system-pcr-arms-pcr-provides-convenient-method-for-differentiation-of-canine-parvovirus-vaccine-and-field-strains
#12
Vikas Gupta, Vishal Chander, Soumendu Chakravarti, Gaurav Kumar Sharma, Javed Ahmed Malla, Vivek Kumar Gupta, Sukdeb Nandi
Vaccination with canine parvovirus-2 (CPV-2) modified live attenuated vaccine remains an effective control strategy for preventing parvovirus induced enteritis in dogs. Virus shedding is a common phenomenon few days after vaccination, possessing a diagnostic dilemma for accurate differentiation of CPV-2 vaccine and wild type field strains. Though several molecular approaches are available for differentiation, the present study focuses on a simple, rapid, cost-effective differentiating infected from vaccinated animals strategy employing ARMS-PCR for differentiation of CPV-2 vaccine and wild type field strains...
December 2018: Virusdisease
https://read.qxmd.com/read/30522170/-comparison-of-epidermal-growth-factor-receptor-egfr-gene-t790m-mutation-by-droplet-digital-pcr-and-super-arms-pcr-in-plasma-ctdna-samples-of-non-small-cell-lung-cancer-patients-with-the-resistance-to-egfr-tyrosine-kinase-inhibitor
#13
Z Y Cao, W Wu, L K Hou, W Zhang, C X Gao, C Y Wu, L P Zhang
Objective: To compare droplet digital PCR (ddPCR) and Super-amplification refractory mutation system (ARMS) in the detection of T790M mutation of epidermal growth factor receptor (EGFR) in the plasma of non-small cell lung cancer patients who had developed resistance to EGFR tyrosine kinase inhibitor (TKI) , and to investigate the clinical application of ddPCR. Methods: Plasma samples were collected from non-small cell lung cancer patients who had acquired EGFR-TKI resistance at Shanghai Pulmonary Hospital, Tongji University, from May 2017 to November 2017...
December 8, 2018: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://read.qxmd.com/read/30515698/significant-association-of-tox3-loc643714-locus-rs3803662-and-breast-cancer-risk-in-a-cohort-of-iranian-population
#14
Amir Tajbakhsh, Fahimeh Afzal Javan, Mahdi Rivandi, Atefeh Moezzi, Soheila Abedini, Mahla Asghari, Zahra Farjami, Hosein Soltanian, Fatemeh Homaei Shandiz, Mohammad Mahdi Kooshyar, Alireza Pasdar
Genome-wide association studies normally focus on low penetrance and moderate to high-frequency single nucleotide polymorphisms (SNPs), which lead to genetic susceptibility to breast cancer. In this regard, the T allele of rs3803662 has been associated with breast cancer risk and with lower expression level of TOX3. We aimed to assess the risk of breast cancer associated with this polymorphism in an Iranian population. Using Tetra Primer ARMS PCR, rs3803662 was analyzed in a total of 943 individuals (430 cases and 513 healthy controls form North East of Iran)...
December 4, 2018: Molecular Biology Reports
https://read.qxmd.com/read/30501701/-arms-pcr-combined-with-capillary-electrophoresis-can-be-a-sensitive-and-quantitative-method-for-detection-of-myd88-l265p-mutation-in-lymphoma
#15
Zi-Xuan Ding, Hong Liu, Jun-Dan Xie, Hong Yao, Liang Ma, Qiao-Chen Qiu, Hong-Jie Shen
OBJECTIVE: To investigate the feasibility of sensitive and quantitative detection of MYD88 gene L265P mutation in lymphoma patients by using ARMS-PCR combined with capillary electrophoresis. METHODS: ARMS-PCR amplified MYD88 gene was analyzed by capillary electrophoresis in ABI 3730 sequencer; Exon 5 of the same gene was sequenced bi-directionally as reported. RESULTS: The sensitivity of detection L265P mutations by the ARMS-PCR combined with capillary electrophoresis and direct sequencing was 0...
December 2018: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://read.qxmd.com/read/30478747/development-and-application-of-low-cost-t-arms-pcr-assay-for-agt-and-cyp11b1-gene-polymorphisms
#16
Misbah Hussain, Haq Nawaz Khan, Fazli Rabbi Awan
Angiotensin II (Ang II: a truncated octapeptide of angiotensinogen, AGT) and 11-β-hydroxylase influence regulation of blood pressure. Dysregulation of Ang II and 11-β-hydroxylase can lead to hypertension and elevate aldosterone levels. Polymorphisms in AGT (encodes AGT) and CYP11B1 (encodes 11-β-hydroxylase) shift the paradigm from physiological to pathological. Currently, various high-throughput techniques are used to genotype these polymorphisms. These techniques require expensive infrastructure and reagents...
November 26, 2018: Molecular Biology Reports
https://read.qxmd.com/read/30456721/association-of-shmt1-maz-erg-and-l3mbtl3-gene-polymorphisms-with-susceptibility-to-multiple-sclerosis
#17
Seyede Zahra Nazari Mehrabani, Mohammad Hossein Shushizadeh, Mohammad Foad Abazari, Maryam Nouri Aleagha, Abbas Ardalan, Rasoul Abdollahzadeh, Asaad Azarnezhad
Multiple sclerosis (MS) is the most common inflammatory and chronic disease of the central nervous system (CNS). A complex interaction between genetic, environmental, and epigenetic factors is involved in the pathogenesis of MS. With the advancement of GWAS, various variants associated with MS have been identified. This study aimed to evaluate the association of single-nucleotide polymorphisms (SNPs) rs4925166 and rs1979277 in the SHMT1, MAZ rs34286592, ERG rs2836425, and L3MBTL3 rs4364506 with MS. In this case-control study, the association of five SNPs in SHMT1, MAZ, ERG, and L3MBTL3 genes with relapsing-remitting MS (RR-MS) was investigated in 190 patients and 200 healthy individuals...
November 19, 2018: Biochemical Genetics
https://read.qxmd.com/read/30454542/-applicable-value-of-amss-pcr-in-lung-cancer-gene-mutation-detection
#18
Ke Jin, Xuan Xie, Yuejiang Pan, Kexi Wang, Baishen Chen, Duoguang Wu, Zhuojian Shen, Minghui Wang, Huizhong Zhang
BACKGROUND: The detection of driver oncogenes of lung cancer is of great importance. There are various gene detection techniques nowadays which are different from each other. We carried out this study to investigate the specificity and sensitivity of assay panels based on an Amplification Refractory Mutation System-polymerase chain reaction (ARMS-PCR) technique of Amplification Mutation Specific System (AMSS) in detection of lung cancer gene mutation. To estimate the applicable value of assay panels in clinical settings...
November 20, 2018: Zhongguo Fei Ai za Zhi, Chinese Journal of Lung Cancer
https://read.qxmd.com/read/30447310/interleukin-33-gene-expression-and-rs1342326-polymorphism-in-beh%C3%A3-et-s-disease
#19
Mahsa Talei, Ali Abdi, Dariush Shanebandi, Farhad Jadidi-Niaragh, Alireza Khabazi, Farhad Babaie, Shahriar Alipour, Babak Afkari, Ebrahim Sakhinia, Zohreh Babaloo
OBJECTIVE: Behçet's disease (BD) is a chronic multi-factorial inflammatory disease with the important role of genetic in activation of its inflammatory response. Interleukin (IL)-33 is a member of the IL-1 family of cytokines that affects innate and adaptive immune systems to promote inflammatory responses. In the current study, we investigated the association of IL-33 gene rs1342326 polymorphism and expression levels of this gene in peripheral blood mononuclear cells (PBMCs) with the susceptibility to BD in Azari population of Iran...
November 14, 2018: Immunology Letters
https://read.qxmd.com/read/30430339/breast-cancer-risk-associated-with-brca1-2-variants-in-the-pakistani-population
#20
Saba Abbas, Ayesha Siddique, Naeem Shahid, Rabbia Tariq Khan, Warda Fatima
BACKGROUND: Majority of the BRCA1 and BRCA2 mutations are associated with the risk of sporadic and familial breast cancer. Since these genes are significant in DNA repair mechanisms, we focused homology-directed DNA repair (HDDR) and BRCA complex. METHODS: We selected BRCA1 variant (rs80356932, 4491C/T) and BRCA2 variant (rs80359182, 319T/C) from the interaction region of BRCA complex and studied in 100 breast cancer patients and 100 controls using tetra-ARMS-PCR...
November 14, 2018: Breast Cancer: the Journal of the Japanese Breast Cancer Society
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