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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
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
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
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
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
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
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
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
Haq Nawaz Khan, Muhammad Wasim, Hina Ayesha, Fazli Rabbi Awan
Wilson disease is a rare autosomal recessive disorder caused by mutations in the ATP7B gene causing hepatic and neurological damage due to copper accumulation. Early diagnosis and treatment could lead to improved survival of patients. Patients are best treated at pre-symptomatic stages but early diagnosis of Wilson disease is challenging owing to complex diagnosis. Evidence based genetic counseling requires characterization of underlying mutations in Wilson disease families. The aim was to characterize the causative mutation(s) in a Pakistani Wilson disease family by custom developed ARMS-PCR assay...
November 13, 2018: Molecular Biology Reports
Qiwei Yang, Sibo Huo, Yujie Sui, Zhenwu Du, Haiyue Zhao, Yu Liu, Wei Li, Xin Wan, Tongjun Liu, Guizhen Zhang
KRAS, NRAS and BRAF are kinases involved in the RAS-RAF-MAPK signaling pathway and also potential tumor-driven genes. Patients with KRAS / NRAS / BRAF mutations are resistant to anti- EGFR monoclonal antibody therapy. The main purpose of this study is to investigate the mutation status and distribution of KRAS / NRAS / BRAF in Chinese colorectal and gastric cancers, and to explore the histopathological changes and related immunohistochemical marker changes caused by these mutations. The mutation status of KRAS (exons 2, codon 12/13), NRAS (exons 2/3/4, codon 12/13/59/61/117/146) and BRAF (exons 15, codon 600) were detected by amplification refractory mutation system polymerase chain reaction (ARMS-PCR) in 86 colon cancer, 140 rectal cancer and 34 gastric cancer tissues...
2018: Frontiers in Oncology
Mohammad Taheri, Rezvan Noroozi, Azadeh Rakhshan, Molud Ghanbari, Mir Davood Omrani, Soudeh Ghafouri-Fard
PURPOSE: To evaluate the role of Interleukin-6 (IL-6) single nucleotide polymorphisms in prostate cancer (PCa) and benign prostate hyperplasia (BPH)Material and Methods: We genotyped two IL-6 intronic variants (rs1800795 and rs2069845) in PCa cases, BPH cases and healthy men referred to Labbafinejad and Shohadaye Tajrish Medical Centers using tetra ARMS-PCR method. RESULTS: The study included 130 PCa cases, 200 BPH cases and 200 healthy men. The C allele of rs1800795 was associated with PCa risk in the assessed population (OR (95% CI) = 1...
October 21, 2018: Urology Journal
Y Wan, B Liu, H Lei, B Zhang, Y Wang, H Huang, S Chen, Y Feng, L Zhu, Y Gu, Q Zhang, H Ma, S-Y Zheng
Background: The comparison between relatively intact nanoscale extracellular vesicle derived DNA (nEV-DNA) and fragmented circulating cell free DNA (cfDNA) in mutation detection among patients with non-small cell lung cancer (NSCLC) has not been performed yet, and thus deserves investigation. Patients and methods: Both nEV-DNA and cfDNA was obtained from 377 NSCLC patients with known EGFR mutation status and 69 controls. The respective EGFRE19del/T790M/L858R mutation status was interrogated with amplification-refractory-mutation-system-based PCR assays (ARMS-PCR)...
October 18, 2018: Annals of Oncology: Official Journal of the European Society for Medical Oncology
Diana Clobeth Sarrazola, Alejandra Marcela Rodríguez, Martín Toro, Alejandra Vélez, Jorge García-Ramírez, María Victoria Lopera, Cristiam M Álvarez, Vital Balthazar González, Juan Manuel Alfaro, Nicolás Pineda-Trujillo
Introduction: The HLA region strongly associates with autoimmune diseases, such as type 1 diabetes. An alternative way to test classical HLA alleles is by using tag SNP. A set of tag SNP for several classical HLA alleles has been reported as associated with susceptibility or resistance to this disease in Europeans. Objective: We aimed at validating the methodology based on tag SNP focused on the inference of classical HLA alleles, and at evaluating their association with type 1 diabetes mellitus in a sample of 200 families from Antioquia...
September 1, 2018: Biomédica: Revista del Instituto Nacional de Salud
Jean-Benoît Le Luduec, Anupa Kudva, Jeanette E Boudreau, Katharine C Hsu
Allelic diversity of the KIR2DL receptors drive differential expression and ligand-binding affinities that impact natural killer cell function and patient outcomes for diverse cancers. We have developed a global intermediate resolution amplification-refractory mutation system (ARMS) PCR-SSP method for distinguishing functionally relevant subgroups of the KIR2DL receptors, as defined by phylogenetic study of the protein sequences. Use of the ARMS design makes the method reliable and usable as a kit, with all reactions utilizing the same conditions...
October 5, 2018: Scientific Reports
Stalinraja Maruthamuthu, Rajalingam Raja, Kalaimani Pandian, Suresh Madasamy, Mythreyee Manoharan, Leishman Pitchai, Amudhan Murugesan, Jayalakshmi Mariakuttikan
OBJECTIVE: To investigate the role of genotypic and phenotypic characteristics of Killer cell Immunoglobulin like Receptors (KIRs) and their Human Leukocyte Antigen (HLA) class-1 ligands in HIV-1 disease progression. STUDY DESIGN AND METHODS: This is a nested case control study includes 347 HIV sero-positive (HIV-1) individuals from South India comprising 45 Long Term Non Progressors (LTNPs) and 302 disease progressors. KIR genotyping was performed by multiplex sequence-specific primer-directed polymerase chain reaction (SSP-PCR)...
October 4, 2018: AIDS
Chandan K Jha, Rashid Mir, Imadeldin Elfaki, Naina Khullar, Suriya Rehman, Jamsheed Javid, Shaheena Banu, Sukh Mohinder Singh Chahal
AIM: Studies have evaluated the association of miRNA-423 C>A genotyping with the susceptibility to coronary artery disease but the results were contradictory. However, no studies have reported the association between miRNA-423 rs6505162 C>A polymorphism and susceptibility of coronary artery disease. MicroRNAs regulate expression of multiple genes involved in atherogenesis. Therefore, we investigated the association of microRNA-423C>T gene variations with susceptibility to coronary artery disease...
October 4, 2018: Endocrine, Metabolic & Immune Disorders Drug Targets
Zeinab Ebrahim Abadi, Maryam Khademi Bami, Maryam Golzadeh, Seyed Mehdi Kalantar, Mohammad Hasan Sheikhha
Background: Tumor protein p53 ( TP53 ) is a tumor suppressor transcriptional regulator protein which plays a critical role in the spermatogenesis. One of the most important regulators of p53 is Murine double minute 2 ( MDM2 ), which acts as a negative regulator of the p53 pathway. Based on the key role of p53 and MDM2 in germ cell apoptosis, polymorphisms that cause a change in their function might affect germ cell apoptosis and the risk of male infertility. Objective: This study was designed to examine associations of TP53 72 Arg>Pro (rs1042522), and MDM2 309 T>G (rs937283) polymorphisms with spermatogenetic failure in Iranian population...
August 2018: International Journal of Reproductive Biomedicine (Yazd, Iran)
Xiuying Zhao, Dong Zhu, Haojie Zhang, Hongyan Sui, Vincent Poon, Shibo Jiang, Bojian Zheng
The CXCL12 gene produces a series of transcript variants through alternative splicing at the 3' end of its pre-mRNA. This study explores the biological activities of these alternative transcripts and the mechanisms involved in the regulation of CXCL12 transcription and RNA splicing. We identified a "GA" insertion mutation in the region of CXCL12α DNA encoding the conserved 3'UTR. This variant transcript was named CXCL12-3'GA+. The mutation occurred at a frequency of 13.2% in healthy Chinese individuals...
January 10, 2019: Gene
Padma Gunda, Mamata Manne, Syed Saifuddin Adeel, Ravi Kumar Reddy Kondareddy, Padma Tirunilai
The aim of this studywas to identify the gene causing bilateral autosomal dominant zonular congenital cataract (ADZCC) without pulverulent opacities in an extended Muslim family by exome sequencing and subsequent analysis. An extended family of 37 members (14 affected and 23 unaffected) who belong to different nuclear families was screened for causative gene. Proband and her unaffected son were screened for causative variant by exome sequencing followed by Sanger sequencing of the proband's entire nuclear family...
September 2018: Journal of Genetics
R Mir, I A Al Balawi, F M Abu Duhier
Aim: microRNA-423 is an oncogenic factor which is frequently upregulated in cancer. However, associations with breast cancer risk remain inconsistent. Therefore, we investigated the prevalence of microRNA-423 rs6505162C>T gene variation with breast cancer susceptibility in Saudi women. Methodology: This study was conducted on 100 breast cancer patients and 124 matched healthy individuals. Genotyping of the microRNA-423 rs6505162C/T gene variation was performed by using the amplification refractory mutation system PCR method (ARMS-PCR)...
September 26, 2018: Asian Pacific Journal of Cancer Prevention: APJCP
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