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https://www.readbyqxmd.com/read/28927538/advances-in-ligase-chain-reaction-and-ligation-based-amplifications-for-genotyping-assays-detection-and-applications
#1
REVIEW
Abdullah A Gibriel, Ola Adel
Genetic variants have been reported to cause several genetic diseases. Various genotyping assays have been developed for diagnostic and screening purposes but with certain limitations in sensitivity, specificity, cost effectiveness and/or time savings. Since the discovery of ligase chain reaction (LCR) in the late nineties, it became one of the most favored platforms for detecting these variants and also for genotyping low abundant contaminants. Recent and powerful modifications with the integration of various detection strategies such as electrochemical and magnetic biosensors, nanoparticles (NPs), quantum dots, quartz crystal and leaky surface acoustic surface biosensors, DNAzyme, rolling circle amplification (RCA), strand displacement amplification (SDA), surface enhanced raman scattering (SERS), chemiluminescence and fluorescence resonance energy transfer have been introduced to both LCR and ligation based amplifications to enable high-throughput and inexpensive multiplex genotyping with improved robustness, simplicity, sensitivity and specificity...
July 2017: Mutation Research
https://www.readbyqxmd.com/read/28924536/genetic-analyses-of-the-nf1-gene-in-turkish-neurofibromatosis-type-i-patients-and-definition-of-three-novel-variants
#2
S D Ulusal, H Gürkan, E Atlı, S A Özal, M Çiftdemir, H Tozkır, Y Karal, H Güçlü, D Eker, I Görker
Neurofibromatosis Type I (NF1) is a multi systemic autosomal dominant neurocutaneous disorder predisposing patients to have benign and/or malignant lesions predominantly of the skin, nervous system and bone. Loss of function mutations or deletions of the NF1 gene is responsible for NF1 disease. Involvement of various pathogenic variants, the size of the gene and presence of pseudogenes makes it difficult to analyze. We aimed to report the results of 2 years of multiplex ligation-dependent probe amplification (MLPA) and next generation sequencing (NGS) for genetic diagnosis of NF1 applied at our genetic diagnosis center...
June 30, 2017: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28922105/hereditary-multiple-exostoses-clinical-molecular-and-radiologic-survey-in-9-families
#3
Karel Medek, Jiří Zeman, Tomáš Honzík, Hana Hansíková, Štěpánka Švecová, Kamila Beránková, Vendula Kučerová Vidrová, Miloslav Kuklík, Jiří Chomiak, Markéta Tesařová
Hereditary multiple exostoses (HME) represents a heterogeneous group of diseases often associated with progressive skeletal deformities. Most frequently, mutations in EXT1 and EXT2 genes with autosomal dominant inheritance are responsible for HME. In our group of 9 families with HME we evaluated the clinical course of the disease and analysed molecular background using Sanger sequencing and MLPA in EXT1 and EXT2 genes. The mean age in our group of patients, when the first exostosis was recognised was 4.5 years (range 2-10 years) and the number of exostoses per one patient documented on X-ray ranged from 2 to 54...
2017: Prague Medical Report
https://www.readbyqxmd.com/read/28915599/copy-number-variations-of-circulating-cell-free-dna-in-urothelial-carcinoma-of-the-bladder-patients-treated-with-radical-cystectomy-a-prospective-study
#4
Armin Soave, Felix K-H Chun, Timo Hillebrand, Michael Rink, Lars Weisbach, Bettina Steinbach, Margit Fisch, Klaus Pantel, Heidi Schwarzenbach
The aim of the present study was to establish a rapid profiling method using multiplex ligation-dependent probe amplification (MLPA) and characterize copy number variations (CNV) in circulating, cell-free DNA (cfDNA) in 85 urothelial carcinoma of the bladder (UCB) patients treated with radical cystectomy (RC). MLPA was tested for the use of cfDNA extracted from serum and plasma by various commercial extraction kits. Eighteen probes served as reference to control denaturation, ligation and amplification efficiency...
August 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/28912064/cell-cycle-and-histone-modification-genes-were-decreased-in-placenta-tissue-from-unexplained-early-miscarriage
#5
Yuanchang Zhu, Bing Li, Tonghua Wu, Lijun Ye, Yong Zeng, Yaou Zhang
Genetic defect is a major cause of early miscarriage, but still in many cases the etiology are not fully understood. Recent studies have shown that dysregulation of genes in placenta tissue are participated in the pathogenesis of unexplained early miscarriage. The aim of our study is to explore mRNA expression profile in placental chorionic villi and to reveal the underlying mechanism of unexplained early miscarriage. Chorionic villous were isolated and extracted from early miscarriage (n=3) and control pregnancy (n=3) placenta with normal chromosome karyotype using MLPA assay, and then mRNA expression profiles were determined by microarray...
September 11, 2017: Gene
https://www.readbyqxmd.com/read/28903883/the-natural-history-of-the-patients-with-duchenne-muscular-dystrophy-in-taiwan-a-medical-center-experience
#6
Wen-Chen Liang, Chen-Hua Wang, Po-Ching Chou, Wan-Zi Chen, Yuh-Jyh Jong
BACKGROUND: Duchenne muscular dystrophy (DMD) is the most common hereditary muscular dystrophy and caused by DMD gene mutation. In addition to progressive proximal muscle weakness, respiratory, orthopedic, and gastrointestinal complications are often observed in DMD. The natural history of patients with DMD in Taiwan has not been reported thus far. METHODS: Medical records of 39 patients who received a diagnosis of DMD between 1999 and 2016 at Kaohsiung Medical University Hospital were reviewed...
August 25, 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/28902850/copy-number-variation-analysis-in-cytochromes-and-glutathione-s-transferases-may-predict-efficacy-of-tyrosine-kinase-inhibitors-in-chronic-myeloid-leukemia
#7
Alexander V Lavrov, Oksana A Ustaeva, Elmira P Adilgereeva, Svetlana A Smirnikhina, Ekaterina Y Chelysheva, Oleg A Shukhov, Yuriy V Shatokhin, Sergey V Mordanov, Anna G Turkina, Sergey I Kutsev
Chronic myeloid leukemia (CML) is a myeloproliferative disease characterized by the presence of BCR/ABL fusion gene in leukemic cells, which promotes uncontrolled cell proliferation. Up to 20% of CML patients show primary resistance or non-optimal response to tyrosine kinase inhibitor (TKI) therapy. We investigated the association between copy number variation (CNV) in glutathione S-transferases (GST) and cytochromes (CYP) and the response rate to TKI. We enrolled 47 patients with CML: 31 with an optimal response and 16 with failure at 6 months in accordance with European LeukemiaNet 2013 recommendations...
2017: PloS One
https://www.readbyqxmd.com/read/28898887/angelman-syndrome-due-to-a-maternally-inherited-intragenic-deletion-encompassing-exons-7-and-8-of-the-ube3a-gene
#8
Athina Ververi, Lily Islam, Beverley Bewes, Louise Busby, Caroline Sullivan, Natalie Canham
Angelman syndrome (AS) is characterised by developmental delay, lack of speech, seizures, a characteristic behavioural profile with a happy demeanour, microcephaly, and ataxia. More than two-thirds of cases are due to an approximately 5-Mb interstitial deletion of the imprinted region 15q11.2q13, which is usually de novo. The rest are associated with point mutations in the UBE3A gene, imprinting defects, and paternal uniparental disomy. Small intragenic UBE3A deletions have rarely been described. They are usually maternally inherited, increasing the recurrence risk to 50%, and may be missed by conventional testing (methylation studies and UBE3A gene sequencing)...
September 13, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28886309/the-correlation-between-pax5-deletion-and-patients-survival-in-iranian-children-with-precursor-b-cell-acute-lymphocytic-leukemia
#9
A Moafi, A Zojaji, R Salehi, S Najafi Dorcheh, S Rahgozar
Despite advances in treatment, children with acute lymphoblastic leukemia (ALL) still experience drug resistance and relapse. Several gene mutations are involved in the onset of this disease and resistance to therapy. The present study examines the incidence of IKZF1, CDKN2A/B, PAX5, EBF1, ETV6, BTG1, RB1, JAK2, and Xp22.33 gene deletions/duplications associated with pediatric ALL in Iran and investigates the possible effect of these mutations on drug resistance. Three-year disease-free survival (3DFS) was evaluated for children diagnosed with Philadelphia negative precursor-B-cell ALL hospitalized at Sayed-al-Shohada Hospital, Isfahan-Iran, from January 2009 until December 2012...
August 30, 2017: Cellular and Molecular Biology
https://www.readbyqxmd.com/read/28879703/a-novel-case-of-15q24-microdeletion-syndrome-detected-by-mlpa-in-a-chinese-family
#10
Xiao-Ying Dai, Lu Zhou, Yang Liu, Jian-Sheng Xie
BACKGROUND: Chromosome 15q24 microdeletion syndrome is a rare disease. To date, only 40 cases have been reported. Here, we also confirmed a 15q24 microdeletion syndrome in a chorionic villus of miscarriage. METHODS: The microdeletion was screened by multiplex ligation-dependent probe amplification (MLPA) and then identified by chromosomal microarray analysis (CMA). RESULTS: A 15q24 microdeletion syndrome was screened by MLPA in the chorionic villus of miscarriage in a Chinese family and was confirmed to be a de novo 3...
September 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28878608/diagnostic-approach-to-microdeletion-syndromes-based-on-22q11-2-investigation-challenges-in-four-cases
#11
Ilária C Sgardioli, Matheus de Mello Copelli, Fabíola P Monteiro, Ana P Dos Santos, Elaine Lustosa Mendes, Társis Paiva Vieira, Vera L Gil-da-Silva-Lopes
In the last few decades, different methods for the detection of genomic imbalances, such as the microdeletion syndromes, were developed. The 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion syndrome and presents wide clinical heterogeneity. The aim of this study was to describe 4 unusual cases of genomic imbalances found in individuals with suspected microdeletion syndromes. Different methods were necessary to complete the diagnosis and to obtain information for genetic counseling. The study was retrospective and descriptive...
August 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28878606/major-contribution-of-genomic-copy-number-variation-in-syndromic-congenital-heart-disease-the-use-of-mlpa-as-the-first-genetic-test
#12
Rejane A C Monteiro, Mariana L de Freitas, Gabrielle S Vianna, Valdirene T de Oliveira, Rafaella X Pietra, Luana C A Ferreira, Patrícia P O Rocha, Michele da S Gonçalves, Giovana da C César, Joziele de S Lima, Paula F V Medeiros, Juliana F Mazzeu, Fernanda S Jehee
Congenital heart disease (CHD) is the most common congenital disorder among live births. When associated with extracardiac abnormalities, it is characterized as a syndromic heart disease (syndromic CHD) and corresponds to 25% of all liveborn infants with a heart defect. The etiology in about 65% of the cases still remains unknown, and in about 35% of the patients, it is associated with genetic factors. In the present study, MLPA and SNP-array techniques were used to investigate a group of 47 patients with syndromic CHD...
August 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28874442/use-of-next-generation-sequencing-to-detect-ldlr-gene-copy-number-variation-in-familial-hypercholesterolemia
#13
Michael A Iacocca, Jian Wang, Jacqueline S Dron, John F Robinson, Adam D McIntyre, Henian Cao, Robert A Hegele
Familial hypercholesterolemia (FH) is a heritable condition of severely elevated LDL cholesterol, caused predominantly by autosomal codominant mutations in the LDL receptor gene (LDLR). In providing a molecular diagnosis for FH, the current procedure often includes targeted next-generation sequencing (NGS) panels for the detection of small-scale DNA variants, followed by multiplex ligation-dependent probe amplification (MLPA) in LDLR for the detection of whole-exon copy number variants (CNVs). The latter is essential as ~10% of FH cases are attributed to CNVs in LDLR; accounting for them decreases false negative findings...
September 5, 2017: Journal of Lipid Research
https://www.readbyqxmd.com/read/28870973/primary-hyperparathyroidism-in-young-patients-in-russia-high-frequency-of-hyperparathyroidism-jaw-tumour-syndrome
#14
Elizaveta Mamedova, Natalya Mokrysheva, Evgeny V Vasilyev, Vasiliy Petrov, Ekaterina Pigarova, Sergey Kuznetsov, Nikolay Kuznetsov, Liudmila Rozhinskaya, Galina A Melnichenko, Ivan Dedov, Anatoly Tiulpakov
BACKGROUND: Primary hyperparathyroidism (PHPT) is a relatively rare disorder among children, adolescents and young adults. Its development at an early age is suspicious for hereditary causes, though the need for routine genetic testing remains controversial. OBJECTIVE: To identify and describe hereditary forms of PHPT in patients with manifestation of the disease under 40 years of age. DESIGN: We enrolled 65 patients with PHPT diagnosed before 40 years of age...
September 4, 2017: Endocrine Connections
https://www.readbyqxmd.com/read/28870584/relevance-of-ccm-gene-polymorphisms-for-clinical-management-of-sporadic-cerebral-cavernous-malformations
#15
Carmela Rinaldi, Placido Bramanti, Concetta Scimone, Luigi Donato, Concetta Alafaci, Rosalia D'Angelo, Antonina Sidoti
Cerebral cavernous malformations (CCMs) are clusters of capillaries in the brain that may cause focal deficits or seizures in affected patients. They occur in both sporadic and inherited autosomal dominant form. Germline mutations in CCM1, CCM2 and CCM3 were identified in familial cases. Over the past 13years we performed sequencing and MLPA of the CCM genes in all sporadic and familial CCM cases coming from some hospital clinics of Neurology and Neurosurgery of Messina and other Italian cities. Our results showed that CCM sporadic patients, negative for previously reported CCM gene causative mutations, always carried known CCM polymorphisms...
September 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28853722/propionic-acidemia-as-a-cause-of-adult-onset-dilated-cardiomyopathy
#16
Moniek Riemersma, Mark R Hazebroek, Appolonia T J M Helderman-van den Enden, Gajja S Salomons, Sacha Ferdinandusse, Martijn C G J Brouwers, Liesbeth van der Ploeg, Stephane Heymans, Jan F C Glatz, Arthur van den Wijngaard, Ingrid P C Krapels, Jörgen Bierau, Han G Brunner
Dilated cardiomyopathy (DCM) is extremely heterogeneous with a large proportion due to dominantly inherited disease-causing variants in sarcomeric genes. Recessive metabolic diseases may cause DCM, usually with onset in childhood, and in the context of systemic disease. Whether metabolic defects can also cause adult-onset DCM is currently unknown. Therefore, we performed an extensive metabolic screening in 36 consecutive adult-onset DCM patients. Diagnoses were confirmed by Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA)...
August 30, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28845532/mutational-analysis-using-sanger-and-next-generation-sequencing-in-sporadic-spindle-cell-hemangiomas-a-study-of-19-cases
#17
Roel W Ten Broek, Elise M Bekers, Wendy W J de Leng, Eric Strengman, Bastiaan Bj Tops, Heinz Kutzner, Jan Willem Leeuwis, Joost M van Gorp, David H Creytens, Thomas Mentzel, Paul J van Diest, Astrid Eijkelenboom, Uta Flucke
Spindle cell hemangioma (SCH) is a distinct vascular soft tissue lesion characterized by cavernous blood vessels and a spindle cell component mainly occurring in the distal extremities of young adults. The majority of cases harbor heterozygous mutations in IDH1/2 sporadically or rarely in association with Maffucci syndrome. However, based on mosaicism and accordingly a low percentage of lesional cells harboring a mutant allele, detection can be challenging. We tested 19 sporadic SCHs by Sanger sequencing, Multiplex Ligation-dependent Probe Amplification (MLPA), conventional Next Generation Sequencing (NGS) and NGS using a Single Molecule Molecular Inversion Probes (smMIP) based library preparation in order to compare their diagnostic value...
August 28, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28840990/a-unique-mutational-spectrum-of-mlc1-in-korean-patients-with-megalencephalic-leukoencephalopathy-with-subcortical-cysts-p-ala275asp-founder-mutation-and-maternal-uniparental-disomy-of-chromosome-22
#18
Sun Ah Choi, Soo Yeon Kim, Jihoo Yoon, Joongmoon Choi, Sung Sup Park, Moon Woo Seong, Hunmin Kim, Hee Hwang, Ji Eun Choi, Jong Hee Chae, Ki Joong Kim, Seunghyo Kim, Yun Jin Lee, Sang Ook Nam, Byung Chan Lim
BACKGROUND: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare inherited disorder characterized by infantile-onset macrocephaly, slow neurologic deterioration, and seizures. Mutations in the causative gene, MLC1, are found in approximately 75% of patients and are inherited in an autosomal recessive manner. We analyzed MLC1 mutations in five unrelated Korean patients with MLC. METHODS: Direct Sanger sequencing was used to identify MLC1 mutations...
November 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/28835222/genome-wide-association-and-targeted-analysis-of-copy-number-variants-with-psoriatic-arthritis-in-german-patients
#19
Steffen Uebe, Maria Ehrlicher, Arif Bülent Ekici, Frank Behrens, Beate Böhm, Georg Homuth, Claudia Schurmann, Uwe Völker, Michael Jünger, Matthias Nauck, Henry Völzke, Heiko Traupe, Michael Krawczak, Harald Burkhardt, André Reis, Ulrike Hüffmeier
BACKGROUND: Psoriatic Arthritis (PsA) is a chronic inflammatory disease of the joints. PsA is etiologically complex, and 11 susceptibility loci have been identified so far. Most of these overlap with loci associated with psoriasis vulgaris (PsV), the most common psoriatic skin manifestation which is also frequently seen in PsA patients. In addition, two copy number variants (CNVs) are associated with PsV, one of which, located within the LCE3 gene cluster, is also associated with PsA...
August 23, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28833187/rhd-genotype-and-zygosity-analysis-in-the-chinese-southern-han-d-d-and-d-variant-donors-using-the-multiplex-ligation-dependent-probe-amplification-assay
#20
Y L Ji, H Luo, J Z Wen, L Haer-Wigman, B Veldhuisen, L Wei, Z Wang, P Ligthart, M Lodén-van Straaten, Y S Fu, C E van der Schoot, G P Luo
BACKGROUND AND OBJECTIVES: Several comprehensive genotyping platforms for determining red blood cell (RBC) antigens have been established and validated for use in the Caucasian and Black populations, but not for the Chinese. The multiplex ligation-dependent probe amplification (MLPA) assay was validated for RHD genotyping in the Chinese. MATERIALS AND METHODS: The blood samples of 200 D+, 200 D- and 62 D variant Chinese donors were collected. RhD antigen was routinely typed by serological method...
August 18, 2017: Vox Sanguinis
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