Abstract:
:Multiplex ligation dependent probe amplification (MLPA) assays were designed for the genes HEXB (OMIM: 606873), GM2A (OMIM: 613109) and SMARCAL1 (OMIM: 606622) of humans. Two sets of synthetic MLPA probes for these coding exons were tested. Changes in copy numbers were detected as well as single nucleotide polymorphisms (SNPs) by complementary DNA sequence analyses. The MLPA method was shown to be reliable for mutation detection and identified five published and 12 new mutations. In all cases from a Morbus Sandhoff cohort of patients, exclusively one variation in copy number was observed and linked to a nucleotide alteration called c.1614-14C>A. This deletion comprised exons 1-5. One of these cases is described in detail. Deletions were neither detected in the GM2A nor the SMARCAL1 genes. The MLPA assays complement routine diagnostics for M. Sandhoff (OMIM: 268800), M. Tay-Sachs variant AB (OMIM: 272750) and Schimke immuno-osseous dysplasia (OMIM: 242900).
journal_name
Mol Cell Probesjournal_title
Molecular and cellular probesauthors
Sobek AK,Evers C,Dekomien Gdoi
10.1016/j.mcp.2012.08.007subject
Has Abstractpub_date
2013-02-01 00:00:00pages
32-7issue
1eissn
0890-8508issn
1096-1194pii
S0890-8508(12)00093-Xjournal_volume
27pub_type
杂志文章abstract::Metastasis and recurrence of breast cancer remain significant clinical problems. The expression level of CD44 protein is higher in breast cancer-initiating cancer stem cells; therefore, the early detection of CD44 using a sensitive diagnostic probe is important for breast cancer diagnosis and therapeutic purposes. In ...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2015.05.014
更新日期:2015-12-01 00:00:00
abstract::Actinobacillus pleuropneumoniae is the etiological agent of swine contagious pleuropneumoniae, which is distributed globally and associated with severe economic losses in the pig rearing industry. In this study, a real-time recombinase polymerase amplification assay (real-time RPA) based on the apxIVA gene was develop...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2019.03.007
更新日期:2019-06-01 00:00:00
abstract::Holstein haplotype (HH) 1, 3 and 4 are lethal mutations, responsible for early embryonic losses in Holstein Friesian (HF) cattle, worldwide. Three PCR based assays - tetra Amplification Refractory Mutation System PCR, PCR primer induced restriction analysis and PCR-restriction fragment length polymorphism techniques f...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2019.101503
更新日期:2020-04-01 00:00:00
abstract::The human respiratory syncytial virus is a common respiratory pathogen in children. Improved diagnosis of the virus is dependent on the development of tools for the rapid detection and estimation of the viral loads. In the current study, RT-qPCR using TaqMan hydrolysis probe based on the F gene detection was developed...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2017.02.006
更新日期:2017-06-01 00:00:00
abstract::Citrus plants are natural hosts of five viroid species and a large number of sequence variants. Because of their small size, viroids lend themselves to various RT-PCR approaches for their detection and further characterization. The one-step RT-PCR approach proposed here is based on the synthesis of viroid-cDNA by reve...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2005.11.001
更新日期:2006-04-01 00:00:00
abstract::A beacon probe was designed to detect one of the two documented single nucleotide changes in IS481 target allele of Bordetella holmesii genome as compared to Bordetella pertussis. PCR amplified product targeting a region of IS481 in presence of the probe was subjected to a post-PCR hybridization and melting cycle. Hyb...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/s0890-8508(03)00026-4
更新日期:2003-04-01 00:00:00
abstract::In a previous study, we reported the performance of a PCR assay amplifying 287-bp of the 16S rRNA gene of thermo-tolerant Campylobacter (C. jejuni, C. lari, C. coli) through an international ring-trial involving 12 participating laboratories. Based on the validated set of primers, a LightCycler real-time PCR assay (LC...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2004.04.005
更新日期:2004-10-01 00:00:00
abstract::Using an acute promyelocytic leukemia (APL) preclinical model, we show that oncogene-specific PCR (Polymerase Chain Reaction)-based assays allow to evaluate the efficacy of immunotherapy combining all-trans retinoic acid (ATRA) and a DNA-based vaccine targeting the promyelocytic leukemia-retinoic acid receptor alpha (...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2012.08.001
更新日期:2013-02-01 00:00:00
abstract::Yersinia pestis, the causative agent of plague mainly infects rodents, while humans are the accidental host. The conventional diagnostic methods available for Y. pestis exhibit cross-reactivity with other enteropathogenic bacteria which makes its detection difficult. Rapid and reliable point-of-care detection of Y. pe...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2020.101670
更新日期:2020-12-01 00:00:00
abstract::Genomic deletions/duplications detected by array comparative genomic hybridization (aCGH) should be confirmed by an independent technology. This approach allows also to test, at low cost, inheritance of the imbalance. In the present study we explored the use of quantitative PCR (qPCR) to confirm aCGH-detected potentia...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2019.101421
更新日期:2019-08-01 00:00:00
abstract::Dengue virus (DENV), a member of the genus Flavivirus within the family Flaviviridae, is one of the most significant mosquito-borne viruses that causing dengue fever in human. A rapid diagnostic would be helpful to detect DENV infection in a timely manner. In the last decade, recombinase polymerase amplification (RPA)...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2019.06.003
更新日期:2019-08-01 00:00:00
abstract::A real-time assay for DNA methyltransferase (MTase) activity has been developed. A hemimethylated smart probe is used as the substrate for DNA MTase. Cleavage of the methylated product leads to separation of fluorophore from quencher, giving a proportional increase in fluorescence. The method permits real-time monitor...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2016.03.007
更新日期:2016-06-01 00:00:00
abstract::The vast majority of first-trimester pregnancy losses are the consequence of numerical aberrations in fetal chromosomes, which may involve nearly all chromosomes. Although commercial probes for all chromosomes are available for multiplex ligation-dependent probe amplification (MLPA) and fluorescence in situ hybridizat...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2019.101422
更新日期:2019-08-01 00:00:00
abstract::TTR amyloidosis (ATTR) is a fatal condition caused by extracellular deposits of misfolded transthyretin. Patients often present with cardiac disease, but manifestations may also involve other organs including the peripheral nervous system. ATTR is considered familial when heterozygous mutations in the TTR gene are pre...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2018.08.005
更新日期:2018-10-01 00:00:00
abstract::A multiplex reverse transcriptase-polymerase chain reaction (mRT-PCR) was developed and optimized for the detection of type A influenza virus; the assay simultaneously differentiates avian H5, H7 and H9 hemagglutinin subtypes. Four sets of specific oligonucleotide primers were used in this test for type A influenza vi...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2006.01.003
更新日期:2006-06-01 00:00:00
abstract::The unique ability of homopyrimidine peptide nucleic acid (PNA) to strand invade homopurine sites of duplex DNA offers a potential alternative to existing techniques for rapid detection of PCR products. From gel shift studies, PNA was found to specifically strand invade homopurine sites that had been incorporated into...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1006/mcpr.2000.0311
更新日期:2000-10-01 00:00:00
abstract::In the present study, multiplex reverse transcription-polymerase chain reaction (mRT-PCR) was developed for simultaneously detection of six major shrimp viruses including yellow-head virus (YHV), white spot syndrome virus (WSSV), Taura syndrome virus (TSV), hepatopancreatic parvovirus (HPV), infectious hypodermal and ...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2007.12.005
更新日期:2008-06-01 00:00:00
abstract::The INK4a/ARF locus encodes two cell cycle-regulatory proteins, p16(INK4a)and p14(ARF). Inactivation of the p16(INK4a)(MTS1) tumor suppressor gene by mutations, promoter methylation or gene deletions is a common event in the development of many different human tumors. The present report describes a novel polyA mononuc...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1006/mcpr.2001.0352
更新日期:2001-06-01 00:00:00
abstract:OBJECTIVES:As one of the most serious malignant carcinomas that threaten the life of sufferers constantly, gastric cancer has attracted a lot of interest among researchers. miR-34a, a member of hundreds of microRNAs (miRNAs), has been elucidated to exert a suppressive role in gastric cancer tumorgenesis based on previo...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2020.101601
更新日期:2020-10-01 00:00:00
abstract::A multiplex PCR was developed that is capable of detecting four of the most important bacterial agents of atypical pneumonia, Mycoplasma pneumoniae, Chlamydophila pneumoniae, Legionella pneumophila, and Bordetella pertussis in uncultured patient specimens. These organisms cause similar symptomologies and are often not...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2005.05.002
更新日期:2005-10-01 00:00:00
abstract::DNA probes were used to examine tetracycline-resistant Gram-negative bacteria (281 strains representing eight species) from catfish ponds. The isolates, which did not previously hybridize with the Tet A, B and C determinants, were examined for the presence of tetracycline-resistance Tet D and Tet E determinants. The d...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/s0890-8508(95)91572-9
更新日期:1995-10-01 00:00:00
abstract::Inexpensive fiberglass mesh window screens were used as spacers between colony blot filters to increase the number of bacterial isolates that could be tested by DNA colony hybridization. Sixty filters with up to 48 isolates per filter were tested at one time. This modified technique reduced the amount of radiolabelled...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/0890-8508(88)90009-6
更新日期:1988-12-01 00:00:00
abstract::Advanced reflectance-based optical techniques for in vivo imaging often suffer from low contrast between neoplastic and normal tissue and are unable to image early biomolecular changes associated with carcinogenesis, thus limiting their clinical value. In this study, we exploit the resonance light scattering property ...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2007.06.010
更新日期:2008-02-01 00:00:00
abstract::Polymorphisms (rs1801282, rs8192678, rs7903146) of peroxisome proliferator-activated receptor gamma (PPARG), peroxisome proliferator-activated receptor gamma coactivator-1 alpha (PPARGC1A) and transcription factor 7-like 2 (TCF7L2) have recently been associated with different diseases, mainly type 2 diabetes. An assay...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2008.10.001
更新日期:2009-02-01 00:00:00
abstract::Non-pathogenic Burkholderia thailandensis may be used as a model for Burkholderia pseudomallei due to the genetic similarity of these species. Moreover, the experimental manipulation of B. thailandensis is safer. In this study, we constructed recombinant flagellin protein fragments of B. thailandensis E264 (FLAG300, F...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2012.11.001
更新日期:2013-04-01 00:00:00
abstract::Jersey haplotype (JH) 1, a stop-gain lethal mutation in the CWC15 gene, causes embryonic losses in Jersey cattle. Two PCR based assays using Amplification Refractory Mutation System (T-ARMS-PCR) and restriction fragment length polymorphism (PCR-RFLP) were developed for screening of the JH1 in cattle. During the screen...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2020.101688
更新日期:2020-12-03 00:00:00
abstract:PURPOSE:This study aimed to analyze the relationships of long non-coding RNAs (lncRNAs) and protein-coding genes in lung squamous cell carcinoma (LUSC). METHODS:RNA-seq data of LUSC deposited in the TCGA database were used to identify differentially expressed protein-coding genes (DECGs) and differentially expressed l...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2016.02.009
更新日期:2016-06-01 00:00:00
abstract::The detection of hepatitis C virus (HCV) RNA by nested polymerase chain reaction (PCR) is believed to be the most reliable method to diagnose HCV infections. A pitfall of nested PCR is that it is prone to contamination. Single step reverse transcription-PCR (RT-PCR) was performed, prospectively, on 80 sera from 59 pat...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1006/mcpr.1996.0024
更新日期:1996-06-01 00:00:00
abstract::For the detection of Chlamydia pneumoniae by polymerase chain reaction (PCR) in respiratory samples, an internal control was constructed to monitor the efficiency of amplification in each reaction. The internal control was designed in a way that the same primer pair can be used to amplify the internal control and targ...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1006/mcpr.1998.0180
更新日期:1998-08-01 00:00:00
abstract::The identification of Dichelobacter nodosus present in a flock is a prerequisite to specific (autogenous) vaccination. Current methods of identification of the serogroup present in a population requires that the organisms be isolated, identified visually in mixed culture on streak plates, subcultured to purify and sub...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1006/mcpr.2002.0427
更新日期:2002-08-01 00:00:00