Abstract:
:We propose a newborn cystic fibrosis (CF) screening test based on the analysis of dried blood spot DNA by a strategy involving simple or multiplex denaturing gradient gel electrophoresis (DGGE) of PCR products of CFTR gene fragments, in conjunction with the immunoreactive-trypsin (IRT) assay. From May 1988 to May 1992 we have performed a neonatal screening programme of 42,000 newborns in Brittany. We identified 450 infants with an elevated IRT level. From this cohort, to evaluate the feasibility of measuring IRT in conjunction with mutation analysis in Guthrie cards, a pilot study was initially conducted on 200 individuals with normal IRT and 150 with raised IRT levels. Furthermore, a retrospective study was performed on 189 IRT positive cards, involving mutation scanning of exons 10 and 11 of the CFTR gene, which contains a number of frequent mutations including the deletion delta F508. We show that this approach has several implications for neonatal CF screening especially in decreasing the recall rate and detecting CF carriers.
journal_name
Mol Cell Probesjournal_title
Molecular and cellular probesauthors
Audrézet MP,Costes B,Ghanem N,Fanen P,Verlingue C,Morin JF,Mercier B,Goossens M,Férec Cdoi
10.1006/mcpr.1993.1073subject
Has Abstractpub_date
1993-12-01 00:00:00pages
497-502issue
6eissn
0890-8508issn
1096-1194pii
S0890-8508(83)71073-Xjournal_volume
7pub_type
杂志文章abstract::Although large expansions of the non-coding GGGGCC repeat in C9orf72 gene are clearly defined as pathogenic for Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Lobar Degeneration (FTLD), intermediate-length expansions have also been associated with those and other neurodegenerative diseases. Intermediate-length...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2016.10.008
更新日期:2017-04-01 00:00:00
abstract::We developed a completely homogeneous duplex loop-mediated isothermal amplification (LAMP) method. The present LAMP method employed a combination of a 6-carboxyfluorescein (FAM)-labeled primer (donor) for one target gene, a non-labeled primer for the other, and an intercalator ethidium bromide (EtBr) dye (acceptor) on...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2010.03.001
更新日期:2010-08-01 00:00:00
abstract::Research has been focused on the detection of Mycobacterium avium subspecies paratuberculosis (MAP) in pasteurized milk; however, pasteurized milk is a key ingredient in a variety of food products. Therefore, MAP contamination in milk-derived products must be investigated. We undertook a six-month study to investigate...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2005.12.006
更新日期:2006-06-01 00:00:00
abstract::A PCR-enzyme-linked immunosorbent assay (PCR-ELISA) was developed for direct identification of Pseudomonas aeruginosa from positive BACTEC blood culture bottles. PCR primers were designed to target a 249 bp sequence of the oprI gene in P. aeruginosa. Biotin-labeled probe (PA3) targeted to the species-specific motif we...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2005.07.005
更新日期:2005-12-01 00:00:00
abstract::To facilitate the clinical application of dot-blot hybridization for assaying hepatitis B virus (HBV) DNA, we compared the ability of nucleic acid probes labelled with 32P or with various non-radioactive markers to detect HBV DNA in patient serum. Cloned HBV DNA was hybridized with (1) 32P-labelled HBV DNA cloned in M...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/0890-8508(91)90053-m
更新日期:1991-08-01 00:00:00
abstract::Sepsis is a common complication in infection, trauma, and surgery. Severe sepsis has been identified as the leading cause of death in patients suffering from noncardiovascular ailments in intensive care units. In the current study, we used lipopolysaccharide (LPS) to stimulate the mouse macrophage cell line RAW264.7, ...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2019.101444
更新日期:2019-10-01 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::We report the occurrence of a common five-nucleotide deletion at codon 1309 of the adenomatous polyposis coli (APC) gene in four different South African population groups. The mutation causes familial adenomatous polyposis (FAP) in 18% (4/22 unrelated patients screened) of affected South Africans, which is similar to ...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/s0890-8508(95)91007-7
更新日期:1995-02-01 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::Surveillance for vancomycin resistant enterococci (VRE) by culture can be labour intensive and time consuming. We have developed a multiplex polymerase chain reaction (MPCR) which can be performed directly on the clinical specimen. The assay allows sensitive detection of enterococci with vanA - and vanB -mediated resi...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1006/mcpr.1999.0250
更新日期:1999-08-01 00:00:00
abstract::To explore the genetic divergence and phylogeny of Chinese indigenous sheep breeds, in the current study, we analyzed the polymorphisms of 5 structural loci in ten sheep populations, including Sishui Fur, Sunite, Wurank, Bayinbuluke, Altay, Small-Tailed Han, Wadi, Tan, Tong and Hu sheep. The data were then compared wi...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2017.11.006
更新日期:2018-02-01 00:00:00
abstract::The human SNAIL is an important developmental protein involved in the formation of mesoderm and neural crest. The protein contains three classic and one atypical zinc-finger motif. The SNAI1 gene is composed of three exons. We have identified three SNPs in non-coding regions, two in the 5'UTR and one in intron 1, whic...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1006/mcpr.2000.0332
更新日期:2001-02-01 00:00:00
abstract::Recombinase polymerase amplification assays using real-time fluorescent detection (real-time RPA assay) and lateral flow dipstick (RPA LFD assay) were developed targeting the gD gene of pseudorabies virus (PRV). Both assays were performed at 39 °C within 20 min. The sensitivity of the real-time RPA assay and the RPA L...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2017.03.005
更新日期:2017-06-01 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
abstract::A rapid polymerase chain reaction (PCR) assay specific for Marek's Disease Virus (MDV) was developed. This assay was able to detect MDV in inoculated chick kidney cells at dilutions of 10(-5). Negative PCR results were obtained using uninoculated chick cells, Marek's Disease Vaccine (SB), Herpesvirus of Turkeys (HVT) ...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1006/mcpr.1993.1017
更新日期:1993-04-01 00:00:00
abstract::The ability to rapidly and reliably genotype mice is an important concern. Traditional methods employ labour intensive and time consuming techniques such as test crossing, gel electrophoresis or nucleic acid hybridization. Here we show that a new molecular biology workstation, the WAVE DNA Fragment Analysis System, ca...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1006/mcpr.1999.0239
更新日期:1999-06-01 00:00:00
abstract::Serum lipid profile which is determined by genotype-phenotype relationship plays a significant role in the development of cardiovascular disease. Upstream stimulatory factor 1 (USF1), has been reported to be associated with serum lipid levels in different population, hence, this study investigated the association of v...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2020.101687
更新日期:2020-12-08 00:00:00
abstract:INTRODUCTION:Treatment in metastatic colorectal cancer (mCRC) has expanded with monoclonal antibodies targeting epidermal growth factor receptor, but is restricted to patients with a wild-type (WT) KRAS mutational status. The most sensitive assays for KRAS mutation detection in formalin-fixed paraffin embedded (FFPE) t...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2017.06.003
更新日期:2017-10-01 00:00:00
abstract::The development of a sensitive, non-isotopic filter hybridization method based on the peroxidase catalyzed luminol reaction is described. High sensitivity was achieved by optimizing the conditions of the hybridization procedure, the immunochemical detection and the peroxidase/luminol reaction. This resulted in the rep...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/0890-8508(92)90020-x
更新日期:1992-06-01 00:00:00
abstract::Clostridium chauvoei is the causative agent of blackleg in cattle and sheep. The clinical symptoms of this severe disease are very similar to that of malignant edema (Clostridium septicum), infections of other Clostridium species belonging to the gas edema complex, and anthrax (Bacillus anthracis). C. chauvoei and C. ...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2010.03.003
更新日期:2010-08-01 00:00:00
abstract::A full-length complementary DNA (cDNA; designated Hc-stp-1) encoding a serine/threonine phosphatase (Hc-STP-1) was isolated from Haemonchus contortus, a strongylid nematode parasite of small ruminants. Hc-stp-1 was shown to be transcribed in males of both adults and fourth-stage larvae, but not in females, early larva...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2010.02.001
更新日期:2010-08-01 00:00:00
abstract::The effects of comprehensive LNA substitution in PCR primers for amplification of human genomic DNA targets are presented in this report. Previous research with LNA in other applications has shown interesting properties for molecular hybridization including enhanced specificity in allele-specific PCR. Here we systemat...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/s0890-8508(03)00062-8
更新日期:2003-10-01 00:00:00
abstract::Bacterial kidney disease in salmonid fish is caused by the slow-growing Gram-positive rod, Renibacterium salmoninarum. The partial sequence of 16S rRNA from R. salmoninarum was determined and compared with published bacterial 16S rRNA sequences. From this sequence information, a 30-bases-long oligonucleotide was desig...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1006/mcpr.1993.1004
更新日期:1993-02-01 00:00:00
abstract::Idiopathic generalized epilepsy (IGE) comprises a heterogeneous group of disorders, in which a high genetic predisposition and a complex mode of inheritance have been suggested. However, genes, which confer liability to common IGE subtypes including juvenile myoclonic epilepsy (JME) and childhood absence epilepsy (CAE...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1006/mcpr.2000.0314
更新日期:2000-08-01 00:00:00
abstract::Three species of Dermacentor, Dermacentor albipictus, Dermacentor andersoni and Dermacentor variabilis, commonly occur in Canada. D. andersoni and D. variabilis are morphologically similar and are important vectors of human and animal pathogens. A practical polymerase chain reaction (PCR) assay, based on the amplifica...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2007.04.003
更新日期:2007-10-01 00:00:00
abstract::The phenotypic detection of Campylobacter concisus, a species of considerable genomic and phenotypic heterogeneity, has proven to be rather tedious in the past. Although alternative methods like DNA:DNA hybridization, immunotyping or whole-cell protein electrophoresis are valuable for the specific detection of C. conc...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/s0890-8508(95)90114-0
更新日期:1995-08-01 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::Wild-type p53 (wtp53) is a tumour suppressor gene involved in cell cycle regulation. The mdm2 protein can complex with the p53 protein and influence its function as a regulator of cell growth. To detect and quantify wtp53 and mdm2 mRNA expression, we established the competitive reverse transcription/polymerase chain r...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1006/mcpr.1996.0059
更新日期:1996-12-01 00:00:00
abstract::Protein tyrosine phosphatase, non-receptor type 14 (PTPN14) exerts a profound effect in the progression of multiple malignant tumors. However, whether PTPN14 plays a role in prostate cancer has not been well investigated. Herein, we evaluated the function and potential underlying mechanism of PTPN14 in prostate cancer...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2020.101642
更新日期:2020-10-01 00:00:00
abstract::Homogenous fluorescence PCR assays offer distinct advantages for qualitative testing and are gaining immense popularity in fields like diagnostic microbiology. To meet the demand of high-volume laboratories, we developed a protocol for qualitative multiplex 5' nuclease assays using post-only PCR analysis. This novel a...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2005.06.001
更新日期:2005-10-01 00:00:00