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https://www.readbyqxmd.com/read/28640505/associations-between-arsenic-3-oxidation-state-methyltransferase-as3mt-and-n-6-adenine-specific-dna-methyltransferase-1-n6amt1-polymorphisms-arsenic-metabolism-and-cancer-risk-in-a-chilean-population
#1
Rosemarie de la Rosa, Craig Steinmaus, Nicholas K Akers, Lucia Conde, Catterina Ferreccio, David Kalman, Kevin R Zhang, Christine F Skibola, Allan H Smith, Luoping Zhang, Martyn T Smith
Inter-individual differences in arsenic metabolism have been linked to arsenic-related disease risks. Arsenic (+3) methyltransferase (AS3MT) is the primary enzyme involved in arsenic metabolism, and we previously demonstrated in vitro that N-6 adenine-specific DNA methyltransferase 1 (N6AMT1) also methylates the toxic inorganic arsenic (iAs) metabolite, monomethylarsonous acid (MMA), to the less toxic dimethylarsonic acid (DMA). Here, we evaluated whether AS3MT and N6AMT1 gene polymorphisms alter arsenic methylation and impact iAs-related cancer risks...
June 22, 2017: Environmental and Molecular Mutagenesis
https://www.readbyqxmd.com/read/28639595/prenatal-diagnosis-of-steroid-21-hydroxylase-deficient-congenital-adrenal-hyperplasia-experience-from-a-tertiary-care-centre-in-india
#2
Sudhisha Dubey, Veronique Tardy, Madhumita Roy Chowdhury, Neerja Gupta, Vandana Jain, Deepika Deka, Pankaj Sharma, Yves Morel, Madhulika Kabra
BACKGROUND & OBJECTIVES: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder with a wide range of clinical manifestations. The disease is attributed to mutations in CYP21A2 gene encoding 21-hydroxylase enzyme. In view of severe phenotype in salt-losing cases, issues related to genital ambiguity in girls and precocity in boys, most families opt for prenatal testing and termination of affected foetus. CAH can be diagnosed in utero through direct molecular analysis of CYP21A2 gene, using DNA extracted from foetal tissues or cells obtained from chorionic villus sampling or amniocentesis...
February 2017: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/28637432/current-guidelines-for-brca-testing-of-breast-cancer-patients-are-insufficient-to-detect-all-mutation-carriers
#3
Eli Marie Grindedal, Cecilie Heramb, Inga Karsrud, Sarah Louise Ariansen, Lovise Mæhle, Dag Erik Undlien, Jan Norum, Ellen Schlichting
BACKGROUND: Identification of BRCA mutations in breast cancer (BC) patients influences treatment and survival and may be of importance for their relatives. Testing is often restricted to women fulfilling high-risk criteria. However, there is limited knowledge of the sensitivity of such a strategy, and of the clinical aspects of BC caused by BRCA mutations in less selected BC cohorts. The aim of this report was to address these issues by evaluating the results of BRCA testing of BC patients in South-Eastern Norway...
June 21, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28631186/association-between-epidermal-growth-factor-receptor-amplification-and-adp-ribosylation-factor-1-methylation-in-human-glioblastoma
#4
Concha López-Ginés, Lara Navarro, Lisandra Muñoz-Hidalgo, Enrique Buso, José Manuel Morales, Rosario Gil-Benso, Mariela Gregori-Romero, Javier Megías, Pedro Roldán, Remedios Segura-Sabater, José Manuel Almerich-Silla, Daniel Monleón, Miguel Cerdá-Nicolás
PURPOSE: Glioblastoma (GB) is the most frequent and most malignant primary brain tumor in adults. Previously, it has been found that both genetic and epigenetic factors may play critical roles in its etiology and prognosis. In addition, it has been found that the epidermal growth factor receptor gene (EGFR) is frequently over-expressed and amplified in primary GBs. Here, we assessed the promoter methylation status of 10 genes relevant to GB and explored associations between these findings and the EGFR gene amplification status...
June 19, 2017: Cellular Oncology (Dordrecht)
https://www.readbyqxmd.com/read/28630945/the-icr96-exon-cnv-validation-series-a-resource-for-orthogonal-assessment-of-exon-cnv-calling-in-ngs-data
#5
Shazia Mahamdallie, Elise Ruark, Shawn Yost, Emma Ramsay, Imran Uddin, Harriett Wylie, Anna Elliott, Ann Strydom, Anthony Renwick, Sheila Seal, Nazneen Rahman
Detection of deletions and duplications of whole exons (exon CNVs) is a key requirement of genetic testing. Accurate detection of this variant type has proved very challenging in targeted next-generation sequencing (NGS) data, particularly if only a single exon is involved. Many different NGS exon CNV calling methods have been developed over the last five years. Such methods are usually evaluated using simulated and/or in-house data due to a lack of publicly-available datasets with orthogonally generated results...
2017: Wellcome Open Research
https://www.readbyqxmd.com/read/28624713/aneuploidy-identification-in-pre-b-acute-lymphoblastic-leukemia-patients-at-diagnosis-by-multiplex-ligation-dependent-probe-amplification-mlpa
#6
A Vázquez-Reyes, L Bobadilla-Morales, C Barba-Barba, G Macías-Salcedo, G Serafín-Saucedo, M E Velázquez-Rivera, M C Almodóvar-Cuevas, A Márquez-Mora, H J Pimentel-Gutiérrez, C Ortega-de-la-Torre, R M Cruz-Osorio, S Nava-Gervasio, J Rivera-Vargas, F Sánchez-Zubieta, J R Corona-Rivera, A Corona-Rivera
Three-quarters of the patients with acute lymphoblastic leukemia (ALL), show numerical or structural chromosomal alterations, which are important factors in leukemogenesis. The use of Multiplex Ligation-dependent Probes Amplification (MLPA) has been mainly limited for searching copy number alterations of genes, suggesting that MLPA could detect numerical alterations in cancer. However, the use of MLPA in pediatrics to analyze subtelomeric sequences for aneuploidy detection has not been considered in previous studies...
June 1, 2017: Leukemia Research
https://www.readbyqxmd.com/read/28620757/a-novel-homozygous-complex-deletion-in-cftr-caused-cystic-fibrosis-in-a-chinese-patient
#7
Keqiang Liu, Yaping Liu, Xue Li, Kai-Feng Xu, Xinlun Tian, Xue Zhang
Cystic fibrosis (CF) is the most frequent lethal genetic disorder among Caucasians, but is considered to be a very rare disease in Chinese population. Here, we present an 11-year-old Chinese CF patient with disseminated bronchiectasis and salty sweat, for whom exon sequencing followed by multiplex ligation-dependent probe amplification analysis of the CFTR gene was applied for mutation screening. A homozygous deletion involving exon 20 of CFTR was observed in the patient's genome. Molecular characterization of the breakpoints indicated that both alleles of this locus had an identical novel complex rearrangement (c...
June 15, 2017: Molecular Genetics and Genomics: MGG
https://www.readbyqxmd.com/read/28610567/mlpa-identification-of-dystrophin-mutations-and-in-silico-evaluation-of-the-predicted-protein-in-dystrophinopathy-cases-from-india
#8
Sekar Deepha, Seena Vengalil, Veeramani Preethish-Kumar, Kiran Polavarapu, Atchayaram Nalini, Narayanappa Gayathri, Meera Purushottam
BACKGROUND: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive disorders caused by mutations in the DMD gene. The aim of this study was to predict the effect of gene mutations on the dystrophin protein and study its impact on clinical phenotype. METHODS: In this study, 415 clinically diagnosed patients were tested for mutations by Multiplex ligation dependent probe amplification (MLPA). Muscle biopsy was performed in 34 patients with negative MLPA...
June 13, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28604965/-phenotypic-and-genetic-analysis-of-an-inv-dup-15-case-with-a-bp3-bp3-rearrangement
#9
Fuchun Zhong, Fenghua Lan, Xiao Zhang, Yuxiang Lin, Yanhong Lin, Aizhen Yan, Xiangdong Tu
OBJECTIVE: To analyze a case of supernumerary marker chromosome (SMC) with combined genetic techniques and explore its correlation with the clinical phenotype. METHODS: The SMC was analyzed with G-banded karyotyping, multiplex ligation dependent probe amplification (MLPA), fluorescence in situ hybridization (FISH), and single nucleotide polymorphism array (SNP-array). RESULTS: G-banding analysis indicated that the patient has a karyotype of 47,XX,+mar...
June 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28598129/-genotype-of-thalassemia-in-han-chinese-and-tibetans-in-sichuan-province-china
#10
Qian Niu, Xun-Bei Huang, Yun-Fei An, Jun Wang, Hong Jiang
OBJECTIVES: To investigate the carrying rates and genotype distribution of thalassemia gene in Han people and Tibetans in Sichuan district. METHODS: A total of 1 147 Han adults and 613 adult Tibetans were included in this study.Hematological parameters were measured with Sysmex XE-2100 automatic blood cell analyzer.Alpha thalassemia and beta thalassemia gene analyses were further performed on samples with a mean corpuscular volume (MCV) <85 fL and a mean corpuscular hemoglobin (MCH) <27 pg...
November 2016: Sichuan da Xue Xue Bao. Yi Xue Ban, Journal of Sichuan University. Medical Science Edition
https://www.readbyqxmd.com/read/28598128/-molecular-features-of-sma-related-genes-in-spinal-muscular-atrophy-patients-of-han-nationality-in-southwest-china
#11
Min-Jin Wang, Jun Wang, Meng-Ge Bai, Wen-Jing Zhou, Li-Juan Wu, Si-Shi Tang, Xiao-Jun Lu, Bin-Wu Ying
OBJECTIVES: To investigate the molecular features of spinal muscular atrophy (SMA) related genes in SMA patients of Han nationality of southwest of China. METHODS: We collected 62 unrelated patients of SMA and 50 unrelated healthy individuals in this study.The copy numbers of survival motor neuron gene (SMN) and uronal-apoptosis inhibitory protein gene (NAIP) were measured by using multiplex ligation-dependent probe amplification (MLPA). RESULTS: Of 62 patients,the copy number of SMA1-4 were 30...
November 2016: Sichuan da Xue Xue Bao. Yi Xue Ban, Journal of Sichuan University. Medical Science Edition
https://www.readbyqxmd.com/read/28595730/recurrent-large-genomic-rearrangements-in-brca1-and-brca2-in-an-irish-case-series
#12
Terri P McVeigh, Nuala Cody, Cliona Carroll, Marie Duff, Michael Farrell, Lisa Bradley, David Gallagher, Trudi McDevitt, Andrew J Green
Mutations in BRCA1 and BRCA2 confer a highly increased risk of cancers, mainly of the breast and ovary. Most variants are point mutations or small insertions/deletions detectable by Sanger sequencing. Large genomic rearrangements, including deletions/duplications of multiple exons, are not routinely detectable by Sanger sequencing, but can be reliably identified by Multiplex Ligation-dependent Probe Amplification (MLPA), and account for 5-17% mutations in different populations. Comprehensive mutation testing using these two methods has been facilitated via our centre since 2005...
August 2017: Cancer Genetics
https://www.readbyqxmd.com/read/28593922/copy-number-variations-in-classical-obesity-candidate-genes-are-not-frequently-associated-with-severe-early-onset-obesity-in-children
#13
Jan Windholz, Peter Kovacs, Marina Schlicke, Christin Franke, Anubha Mahajan, Andrew P Morris, Johannes R Lemke, Jürgen Klammt, Wieland Kiess, Torsten Schöneberg, Roland Pfäffle, Antje Körner
BACKGROUND: Obesity is genetically heterogeneous and highly heritable, although polymorphisms explain the phenotype in only a small proportion of obese children. We investigated the presence of copy number variations (CNVs) in "classical" genes known to be associated with (monogenic) early-onset obesity in children. METHODS: In 194 obese Caucasian children selected for early-onset and severe obesity from our obesity cohort we screened for deletions and/or duplications by multiplex ligation-dependent probe amplification reaction (MLPA)...
May 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28593555/genetic-analysis-of-irf6-a-gene-involved-in-craniofacial-midline-formation-in-relation-to-pituitary-and-facial-morphology-of-patients-with-idiopathic-growth-hormone-deficiency
#14
Eline Starink, Anita C S Hokken-Koelega, Theo J Visser, Janneke Baan, Robin P Peeters, Laura C G de Graaff
INTRODUCTION: Growth hormone is secreted by the pituitary gland, which forms part of the craniofacial midline. IRF6 encodes a transcription factor involved in the development of the craniofacial midline and mutations in IRF6 are known to disturb craniofacial development. Craniofacial and pituitary development are closely related. After whole exome sequencing revealed a new mutation in IRF6 in a family with Idiopathic Growth Hormone Deficiency (IGHD), we screened the remainder of our IGHD cohort for mutations in this gene and related their genotypes to pituitary and craniofacial morphology...
June 7, 2017: Pituitary
https://www.readbyqxmd.com/read/28591399/detection-of-tuberculosis-drug-resistance-a-comparison-by-mycobacterium-tuberculosis-mlpa-assay-versus-genotype%C3%A2-mtbdrplus
#15
Paula Fernanda Gonçalves Dos Santos, Elis Regina Dalla Costa, Daniela M Ramalho, Maria Lucia Rossetti, Regina Bones Barcellos, Luciana de Souza Nunes, Leonardo Souza Esteves, Rodrigo Rodenbusch, Richard M Anthony, Indra Bergval, Sarah Sengstake, Miguel Viveiros, Afrânio Kritski, Martha M Oliveira
BACKGROUND: To cope with the emergence of multidrug-resistant tuberculosis (MDR-TB), new molecular methods that can routinely be used to screen for a wide range of drug resistance related genetic markers in the Mycobacterium tuberculosis genome are urgently needed. OBJECTIVE: To evaluate the performance of multiplex ligaton-dependent probe amplification (MLPA) against Genotype® MTBDRplus to detect resistance to isoniazid (INHr) and rifampicin (RIFr). METHOD: 96 culture isolates characterised for identification, drug susceptibility testing (DST) and sequencing of rpoB, katG, and inhA genes were evaluated by the MLPA and Genotype®MTBDRplus assays...
June 2017: Memórias do Instituto Oswaldo Cruz
https://www.readbyqxmd.com/read/28586144/co-occurrence-of-jalili-syndrome-and-muscular-overgrowth
#16
Anna Wawrocka, Joanna Walczak-Sztulpa, Magdalena Badura-Stronka, Michal Owecki, Przemysław Kopczynski, Ewa Mrukwa-Kominek, Anna Skorczyk-Werner, Piotr Gasperowicz, Rafal Ploski, Maciej R Krawczynski
Jalili syndrome is a rare disorder inherited in an autosomal recessive pattern manifesting as a combination of cone-rod dystrophy including progressive loss of visual acuity, color blindness, photophobia, and amelogenesis imperfecta with hypoplastic, immature, or hypocalcified dental enamel. It is caused by mutations in CNNM4, which encodes the ancient conserved domain protein 4. Here we report three brothers with Jalili syndrome and muscle overgrowth of the legs. Myopathic changes were found in needle electromyography...
June 6, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28575107/mutation-spectrum-of-rb1-mutations-in-retinoblastoma-cases-from-singapore-with-implications-for-genetic-management-and-counselling
#17
Swati Tomar, Raman Sethi, Gangadhara Sundar, Thuan Chong Quah, Boon Long Quah, Poh San Lai
Retinoblastoma (RB) is a rare childhood malignant disorder caused by the biallelic inactivation of RB1 gene. Early diagnosis and identification of carriers of heritable RB1 mutations can improve disease outcome and management. In this study, mutational analysis was conducted on fifty-nine matched tumor and peripheral blood samples from 18 bilateral and 41 unilateral unrelated RB cases by a combinatorial approach of Multiplex Ligation-dependent Probe Amplification (MLPA) assay, deletion screening, direct sequencing, copy number gene dosage analysis and methylation assays...
2017: PloS One
https://www.readbyqxmd.com/read/28569220/brca-promoter-methylation-in-sporadic-versus-brca-germline-mutation-related-breast-cancers
#18
Shoko Vos, Cathy Beatrice Moelans, Paul Joannes van Diest
BACKGROUND: In breast cancer, BRCA promoter hypermethylation and BRCA germline mutations are said to occur together rarely, but this property has not yet been translated into a clinical test. Our aim in this study was to investigate the diagnostic value of BRCA1/2 methylation in distinguishing breast carcinomas of BRCA1 and BRCA2 germline mutation carriers from sporadic breast carcinomas using a recently developed BRCA methylation assay based on methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA)...
May 31, 2017: Breast Cancer Research: BCR
https://www.readbyqxmd.com/read/28558743/clinical-and-genetic-characteristics-of-chinese-patients-with-birt-hogg-dub%C3%A3-syndrome
#19
Yaping Liu, Zhiyan Xu, Ruie Feng, Yongzhong Zhan, Jun Wang, Guozhen Li, Xue Li, Weihong Zhang, Xiaowen Hu, Xinlun Tian, Kai-Feng Xu, Xue Zhang
BACKGROUND: Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder, the main manifestations of which are fibrofolliculomas, renal tumors, pulmonary cysts and recurrent pneumothorax. The known causative gene for BHD syndrome is the folliculin (FLCN) gene on chromosome 17p11.2. Studies of the FLCN mutation for BHD syndrome are less prevalent in Chinese populations than in Caucasian populations. Our study aims to investigate the genotype spectrum in a group of Chinese patients with BHD...
May 30, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28554868/a-novel-deletion-of-snurf-snrpn-exon-1-in-a-patient-with-prader-willi-like-phenotype
#20
Yang Cao, Susan S AlHumaidi, Eissa A Faqeih, Beth A Pitel, Patrick Lundquist, Umut Aypar
Here we report the smallest deletion involving SNURF/SNRPN that causes major symptoms of Prader-Willi syndrome (PWS), including hypotonia, dysmorphic features, intellectual disability, and obesity. A female patient with the aforementioned and additional features was referred to the Mayo Clinic Cytogenetics laboratory for genetic testing. Chromosomal microarray analysis and subsequent Sanger sequencing identified a de novo 6.4 kb deletion at 15q11.2, containing exon 1 of the SNURF gene and exon 1 of the shortest isoform of the SNRPN gene...
May 26, 2017: European Journal of Medical Genetics
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