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https://www.readbyqxmd.com/read/27920636/identifying-cnvs-in-15q11q13-and-16p11-2-of-patients-with-seizures-increases-the-rates-of-detecting-pathogenic-changes
#1
Gabrielle S Vianna, Mariana L Freitas, Valdirene T de Oliveira, Rafaella X Pietra, Michele da S Gonçalves, Patrícia P O Rocha, Rejane A C Monteiro, Luana C A Ferreira, Rosana R Xavier, Andréia M Carvalho, Patrícia R de M Lima, Maria Augusta N P Monteiro, Elvis C Mateo, Juliana G Giannetti, Giovana da C César, Joziele de S Lima, Paula F V Medeiros, Fernanda S Jehee
Chromosomal changes are frequently observed in patients with syndromic seizures. Understanding the genetic etiology of this pathology is crucial for the guidance and genetic counseling of families as well as for the establishment of appropriate treatment. A combination of MLPA kits was used to identify pathogenic CNVs in a group of 70 syndromic patients with seizures. Initially, a screening was performed for subtelomeric changes (MLPA P036 and P070 kits) and for the regions most frequently related to microdeletion/microduplication syndromes (MLPA P064)...
November 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27919838/a-cgh-array-procedure-to-detect-pax6-gene-structural-defects
#2
Alessandra Franzoni, Patrizia Dello Russo, Federica Baldan, Angela Valentina D'Elia, Cinzia Puppin, Silvana Penco, Giuseppe Damante
Aniridia is a rare congenital disease characterized by eye development defects, in which the more evident clinical manifestation is iris absence or malformation. In most of the patients, aniridia is associated to PAX6 gene point mutations or deletions. When these deletions are large and involve other genes, a more complex disease, named WAGR syndrome, arises. In order to develop a new tool to analyze aniridia and WAGR subjects, a CGH array (CGHa) of the PAX6 genomic region was set up. We generated a custom microarray kit using an oligonucleotide-based platform that allows high resolution molecular profiling of genomic aberrations in 20 Mb of the 11p13 chromosomal region, centered on the PAX6 gene...
December 2, 2016: Molecular and Cellular Probes
https://www.readbyqxmd.com/read/27914478/germline-mutations-in-brca1-and-brca2-in-epithelial-ovarian-cancer-patients-in-brazil
#3
Simone Maistro, Natalia Teixeira, Giselly Encinas, Maria Lucia Hirata Katayama, Vivian Dionisio Tavares Niewiadonski, Larissa Garcia Cabral, Roberto Marques Ribeiro, Nelson Gaburo Junior, Ana Carolina Ribeiro Chaves de Gouvêa, Dirce Maria Carraro, Ester Cerdeira Sabino, Maria Del Pilar Estevez Diz, Roger Chammas, Geertruida Hendrika de Bock, Maria Aparecida Azevedo Koike Folgueira
BACKGROUND: Approximately 8-15% epithelial ovarian cancer patients are BRCA1 or BRCA2 germline mutation carriers. Brazilian inhabitants may have peculiar genetic characteristics associated with ethnic diversity, and studies focusing on the entire BRCA1/BRCA2 gene sequencing in Brazilian ovarian cancer patients are still lacking. The aim of this study was to evaluate BRCA1/2 mutations, through entire gene sequencing, in a Brazilian population of women with epithelial ovarian cancer. METHODS: In a cross sectional study performed in one reference centre for cancer treatment in São Paulo, Brazil, 100 patients diagnosed with epithelial ovarian cancer unselected for family history of breast and/or ovarian cancer were included...
December 3, 2016: BMC Cancer
https://www.readbyqxmd.com/read/27906673/multiplex-ligation-dependent-probe-amplification-assay-identifies-additional-copy-number-changes-compared-with-r-band-karyotype-and-provide-more-accuracy-prognostic-information-in-myelodysplastic-syndromes
#4
Jingya Wang, Xiaofei Ai, Tiejun Qin, Zefeng Xu, Yue Zhang, Jinqin Liu, Bing Li, Liwei Fang, Hongli Zhang, Lijuan Pan, Naibo Hu, Shiqiang Qu, Wenyu Cai, Kun Ru, Yujiao Jia, Gang Huang, Zhijian Xiao
Cytogenetic analysis provides important diagnostic and prognostic information for patients with Myelodysplastic syndromes (MDS) and plays an essential role in the International Prognostic Scoring System (IPSS) and the revised International Prognostic Scoring System (IPSS-R). Multiplex ligation-dependent probe amplification (MLPA) assay is a recently developed technique to identify targeted cytogenetic aberrations in MDS patients. In the present study, we evaluated the results obtained using an MLPA assay in 437 patients with MDS to determine the efficacy of MLPA analysis...
November 29, 2016: Oncotarget
https://www.readbyqxmd.com/read/27891625/validation-of-the-multiplex-ligation-dependent-probe-amplification-assay-and-its-application-on-the-distribution-study-of-the-major-alleles-of-17-blood-group-systems-in-chinese-donors-from-guangzhou
#5
Yanli Ji, Jizhi Wen, Barbera Veldhuisen, Lonneke Haer-Wigman, Zhen Wang, Martin Lodén-van Straaten, Ling Wei, Guangping Luo, Yongshui Fu, C Ellen van der Schoot
BACKGROUND: Genotyping platforms for common red blood cell (RBC) antigens have been successfully applied in Caucasian and black populations but not in Chinese populations. In this study, a genotyping assay based on multiplex ligation-dependent probe amplification (MLPA) technology was applied in a Chinese population to validate the MLPA probes. Subsequently, the comprehensive distribution of 17 blood group systems also was obtained. STUDY DESIGN AND METHODS: DNA samples from 200 Chinese donors were extracted and genotyped using the blood-MLPA assay...
November 27, 2016: Transfusion
https://www.readbyqxmd.com/read/27871894/optimizing-gdna-extraction-from-fresh-frozen-meningioma-tissue-for-downstream-genetic-analysis
#6
D T Proctor, E H Yoo, Z Vujadinovic, S Lama, G van Marle, G R Sutherland
OBJECTIVE: Meningioma is the most common brain tumor. Genetic mutations in meningioma that include deletion of the neurofibromatosis type 2 gene, (NF2), offer diagnostic information on tumor behavior, recurrence and potential response to treatment. Obtaining high-grade genetic material is critical for accurate, sensitive and robust molecular testing. Currently, no standardized procedure exists for extracting gDNA from meningioma, and this problem was addressed in this report. METHOD: This study compared the yield and quality of extracted gDNA from patient meningioma specimens using an optimized phenol chloroform method and two commercial silica column-based extractions kits and tested respective performances as template in qPCR tests and multiplex ligation-dependent probe amplification (MLPA) NF2 screening...
November 19, 2016: Clinical Biochemistry
https://www.readbyqxmd.com/read/27864121/gene-amplification-of-ccne1-ccnd1-and-cdk6-in-gastric-cancers-detected-by-multiplex-ligation-dependent-probe-amplification-and-fluorescence-in-situ-hybridization
#7
Akishi Ooi, Takeru Oyama, Ritsuko Nakamura, Ryousuke Tajiri, Hiroko Ikeda, Sachio Fushida, Yoh Dobashi
New and effective treatments for advanced gastric cancer are urgently needed. Cyclins E and D1 form a complex with cyclin-dependent kinase 2 (CDK2), 4 or 6 to regulate G1-S transition. The G1-S regulatory genes encoding cyclin E (CCNE1), cyclin D1 (CCND1) and CDK6 (CDK6) are frequently amplified in gastric cancer and may therefore influence molecularly targeted therapies against ERBB2 or EGFR when co-amplified. A total of 179 formalin-fixed and paraffin-embedded gastric cancer specimens were examined for these gene amplifications by multiplex ligation-dependent probe amplification (MLPA) and fluorescence in situ hybridization (FISH)...
November 15, 2016: Human Pathology
https://www.readbyqxmd.com/read/27846313/clinical-and-genetic-analysis-of-multiple-endocrine-neoplasia-type-1-related-primary-hyperparathyroidism-in-chinese
#8
Jing Kong, Ou Wang, Min Nie, Jie Shi, Yingying Hu, Yan Jiang, Mei Li, Weibo Xia, Xunwu Meng, Xiaoping Xing
OBJECTIVE: Multiple endocrine neoplasia type 1-related primary hyperparathyroidism (MHPT) differs in many aspects from sporadic PHPT (SHPT). The aims of this study were to summarize the clinical features and genetic background of Chinese MHPT patients and compare the severity of the disease with those of SHPT. DESIGN AND METHODS: A total of 40 MHPT (27 sporadic, 7 families) and 169 SHPT cases of Chinese descent were retrospectively analyzed. X-rays and ultrasound were used to assess the bone and urinary system...
2016: PloS One
https://www.readbyqxmd.com/read/27843464/molecular-genetic-analysis-of-survival-motor-neuron-gene-in-460-turkish-cases-with-suspicious-spinal-muscular-atrophy-disease
#9
Afrooz Rashnonejad, Huseyin Onay, Tahir Atik, Ozlem Atan Sahin, Sarenur Gokben, Hasan Tekgul, Ferda Ozkinay
OBJECTIVE: To describe 12 yr experience of molecular genetic diagnosis of Spinal Muscular Atrophy (SMA) in 460 cases of Turkish patients. MATERIALS & METHODS: A retrospective analysis was performed on data from 460 cases, referred to Medical Genetics Laboratory, Ege University's Hospital, Izmir, Turkey, prediagnosed as SMA or with family history of SMA between 2003 and 2014. The PCR-restriction fragment length polymorphism (RFLP) and the Multiplex ligation-dependent probe amplification (MLPA) analysis were performed to detect the survival motor neuron (SMN)1 deletions and to estimate SMN1 and SMN2 gene copy numbers...
2016: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/27826100/mutation-analysis-of-trps1-gene-including-core-promoter-5-utr-and-3-utr-regulatory-sequences-with-insight-into-their-organization
#10
Roman Solc, Michaela Klugerova, Josef Vcelak, Alice Baxova, Miloslav Kuklik, Jan Vseticka, Rastislav Beharka, Katerina Hirschfeldova
The TRPS1 protein is a potent regulator of proliferation, differentiation, and apoptosis. The TRPS1 gene aberrations are strongly associated with rare trichorhinophalangeal syndrome (TRPS) development. We have conducted MLPA analysis to capture deletion within the crucial 8q24.1 chromosomal region in combination with mutation analysis of TRPS1 gene including core promoter, 5'UTR, and 3'UTR sequences in nine TRPS patients. Low complexity or extent of untranslated regulatory sequences avoided them from analysis in previous studies...
November 5, 2016: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/27825739/use-of-a-multiplex-ligation-dependent-probe-amplification-method-for-the-detection-of-deletions-duplications-in-the-gba1-gene-in-gaucher-disease-patients
#11
Suelen P Basgalupp, Marina Siebert, Filippo Pinto E Vairo, Anisse Marques Chami, Louise Lapagesse de Camargo Pinto, Gerson da S Carvalho, Ida Vanessa D Schwartz
Gaucher disease (GD) is caused by the deficient activity of β-glucocerebrosidase due to pathogenic mutations in the GBA1. This gene has a pseudogene (GBAP) with 96% of sequence homology. Recombination (Rec) events in the GBA1 seem to be facilitated by an increased degree of homology and proximity to the GBAP. The objectives of this study were to validate the P338-X1 GBA kit (MRC-Holland) for Multiplex Ligation-dependent Probe Amplification (MLPA) and to detect larger deletions/duplications present in GBA1 in GD patients from Brazil...
October 20, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27824480/the-molecular-genetic-background-of-familial-hypercholesterolemia-data-from-the-slovak-nation-wide-survey
#12
D Gabčová, B Vohnout, D Staníková, M Hučkova, M Kadurová, M Debreová, M Kozárová, Ľ Fábryová, J Staník, I Klimeš, K Rašlová, D Gašperiková
Familial hypercholesterolemia (FH) is most frequently caused by LDLR or APOB mutations. Therefore, the aim of our study was to examine the genetic background of Slovak patients suspected of FH. Patients with clinical suspicion of FH (235 unrelated probands and 124 family relatives) were recruited throughout Slovakia during the years 2011-2015. The order of DNA analyses in probands was as follows: 1. APOB mutation p.Arg3527Gln by real-time PCR method, 2. direct sequencing of the LDLR gene 3. MLPA analysis of the LDLR gene...
November 8, 2016: Physiological Research
https://www.readbyqxmd.com/read/27824209/mutational-spectrum-and-deep-intronic-variants-in-the-factor-viii-gene-of-haemophilia-a-patients-identification-by-next-generation-sequencing
#13
J E Bach, J Oldenburg, C R Müller, S Rost
: Haemophilia A (HA) is caused by a broad spectrum of different mutation types in the factor VIII gene (F8). In our patient cohort of more than 2600 HA patients as well as in other published studies, the most frequent cause are missense mutations in different F8 exons or the recurrent intron 22 inversion. Some exons and several specific nucleotide positions represent hot spots for point mutations in the examined cohort. About 4 % of cases remain without mutation after routine HA diagnostic methods including inversion PCRs, Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA)...
November 8, 2016: Hämostaseologie
https://www.readbyqxmd.com/read/27822861/genotyping-multiallelic-copy-number-variation-with-multiplex-ligation-dependent-probe-amplification-mlpa
#14
Suzan de Boer, Stefan J White
Multiallelic copy number variants are genomic loci that can be present in a range of different copy numbers between individuals. High or low copy numbers of specific genes have been associated with different diseases. Precise genotyping of these loci can be complicated, and relies on accurate assays. Multiplex ligation-dependent probe amplification (MLPA) is a PCR-based approach that allows copy number determination of up to 50 genomic loci in a single reaction. In this chapter, we outline the basic protocol, with a particular emphasis on the appropriate approach to accurately genotype multiallelic copy numbers...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27821076/three-novel-mutations-of-stk11-gene-in-chinese-patients-with-peutz-jeghers-syndrome
#15
Hu Tan, Libin Mei, Yanru Huang, Pu Yang, Haoxian Li, Ying Peng, Chen Chen, Xianda Wei, Qian Pan, Desheng Liang, Lingqian Wu
BACKGROUND: Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited disorder characterized by gastrointestinal (GI) hamartomatous polyps, mucocutaneous hyperpigmentation, and an increased risk of cancer. Mutations in the serine-threonine kinase 11 gene (SKT11) are the major cause of PJS. CASE PRESENTATION: Blood samples were collected from six PJS families including eight patients. Mutation screening of STK11 gene was performed in these six families by Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) assay...
November 8, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27817780/-identification-of-gene-mutation-and-prenatal-diagnosis-in-a-family-with-x-linked-ichthyosis
#16
Ji-Wei Huang, Ning Tang, Wu-Gao Li, Zhe-Tao Li, Shi-Qiang Luo, Jing-Wen Li, Jun Huang, Ti-Zhen Yan
X-linked ichthyosis (XLI) is a metabolic disease with steroid sulfatase deficiency and often occurs at birth or shortly after birth. The encoding gene of steroid sulfatase, STS, is located on the short arm of the X chromosome, and STS deletion or mutation can lead to the development of this disease. This study collected the data on the clinical phenotype from a family, and the proband, a boy aged 11 years with full-term vaginal delivery, had dry and rough skin and black-brown scaly patches, mainly in the abdomen and extensor aspect of extremities...
November 2016: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/27817035/copy-number-variation-analysis-reveals-additional-variants-contributing-to-endometriosis-development
#17
Fernanda Mafra, Diego Mazzotti, Renata Pellegrino, Bianca Bianco, Caio Parente Barbosa, Hakon Hakonarson, Denise Christofolini
PURPOSE: Endometriosis is a gynecological disease influenced by multiple genetic and environmental factors. The aim of the current study was to use SNP-array technology to identify genomic aberrations that may possibly contribute to the development of endometriosis. METHODS: We performed an SNP-array genotyping of pooled DNA samples from both patients (n = 100) and controls (n = 50). Copy number variation (CNV) calling and association analyses were performed using PennCNV software...
November 5, 2016: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/27816806/spectrum-of-mutations-in-homozygous-familial-hypercholesterolemia-in-india-with-four-novel-mutations
#18
Nitika Setia, Renu Saxena, Anjali Arora, Ishwar C Verma
BACKGROUND AND AIMS: Homozygous familial hypercholesterolemia (FH) is a rare but serious, inherited disorder of lipid metabolism characterized by very high total and LDL cholesterol levels from birth. It presents as cutaneous and tendon xanthomas since childhood, with or without cardiac involvement. FH is commonly caused by mutations in three genes, i.e. LDL receptor (LDLR), apolipoprotein B (ApoB) and PCSK9. We aimed to determine the spectrum of mutations in cases of homozygous FH in Asian Indians and evaluate if there was any similarity to the mutations observed in Caucasians...
October 14, 2016: Atherosclerosis
https://www.readbyqxmd.com/read/27815810/ankle-foot-orthosis-in-duchenne-muscular-dystrophy-a-4%C3%A2-year-experience-in-a-multidisciplinary-neuromuscular-disorders-clinic
#19
Anupam Gupta, Atchayaram Nalini, Shanti Prakash Arya, Seena Vengalil, Meeka Khanna, Rashmi Krishnan, Arun B Taly
OBJECTIVE: To assess Ankle-Foot-Orthosis (AFO) requirement and ambulation in Duchenne Muscular Dystrophy (DMD) patients seen over a period of 4 y at a multi-disciplinary Neuromuscular disorders clinic (NMD). METHODS: A study was conducted in university quaternary research hospital with DMD patients confirmed by MLPA (multiplex ligation - dependent probe amplification) method and were evaluated between January 2012 and December 2015. Their ambulatory status, detailed neurological and functional status were recorded...
November 5, 2016: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/27814343/prevalence-of-shox-haploinsufficiency-among-short-statured-children
#20
Maja Rou Marstrand-Joergensen, Rikke Beck Jensen, Lise Aksglaede, Morten Dunoe, Anders Juul
BACKGROUND: The aim of this clinical study was to determine the prevalence of SHOX haploinsufficiency in a population of short stature patients and describe their anthropometric measurements. METHODS: 574 short statured patients were evaluated in a single center (1992-2015). SHOX copy number was detected by quantitative Polymerase Chain Reaction (qPCR) in 574 subjects, followed by multiplex ligation-dependent probe amplification (MLPA) and DNA sequencing in subjects with SHOX haploinsufficiency...
November 4, 2016: Pediatric Research
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