Abstract:
:DNA samples of 2303 individuals from nine different population groups were screened for variant -175g-->t in the promoter region of the low-density lipoprotein receptor (LDLR) gene. The -175g-->t variant detected at carrier frequencies of 3-10% in different African population groups was absent in the Caucasian and Asian (Chinese) individuals studied. In contrast to previous findings in Black South Africans where this polymorphism predominated in patients with familial hypercholesterolaemia (FH), it occurred at a significantly lower frequency in hypercholesterolaemics from the recently admixed Coloured population of South Africa compared with population-matched controls (P<0.0001). Haplotype and mutation analysis excluded the likelihood that this finding is due to association with a specific disease-related mutation in FH patients, although reversal of the positive association with FH observed in the Black population may, at least in part, be due to admixture linkage disequilibrium. Transient transfection studies in HepG2 cells demonstrated that the -175t allele is associated with a non-significant decrease ( approximately 7%) of LDLR transcription in the absence of sterols. The data presented in this study raise the possibility that the -175g-->t polymorphism may have subtle effects that become clinically important within certain genetic and/or environmental contexts.
journal_name
Mol Cell Probesjournal_title
Molecular and cellular probesauthors
Hoogendijk CF,Scholtz CL,Pimstone SM,Ehrenborg E,Kastelein JJ,Defesche JC,Thiart R,du Plessis L,de Villiers JN,Zaahl MG,Delport R,Rubinsztein DC,Raffel LJ,Grim CE,Mediene-Benchekor S,Amouyel P,Brousseau T,Steyn K,Lombdoi
10.1016/s0890-8508(03)00050-1subject
Has Abstractpub_date
2003-08-01 00:00:00pages
175-81issue
4eissn
0890-8508issn
1096-1194pii
S0890850803000501journal_volume
17pub_type
杂志文章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::As part of the development of the ligase chain reaction (LCR) into a tool which can be used by a wide variety of researchers, we have investigated several analytical detection systems for the products of this amplification reaction. While early work with this technology has used gel electrophoresis to separate the LCR...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1006/mcpr.1993.1027
更新日期:1993-06-01 00:00:00
abstract::Beet Necrotic Yellow Vein Virus (BNYVV) was detected by enzyme-linked immunosorbent assay (ELISA) and RNA/DNA dot hybridization using either radiolabelled or non-radioactive probes. Dot hybridization specifically distinguished isolates that could not be distinguished by ELISA. The detection thresholds for ELISA, hybri...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/0890-8508(89)90026-1
更新日期:1989-06-01 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::The pyrazinamidase gene coding for the enzyme that activates the bactericidal drug pyrazinamide contains a polymorphic site that is preserved in Mycobacterium bovis. We synthesized two sets of primers, one encompassing a 180 bp fragment, and the second spanning a 726 bp fragment including the full pncA gene. Following...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2003.11.006
更新日期:2004-06-01 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::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::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::Rapid pathogen testing is vital to the food industry. Enzyme immunoassays (EIA) provide reliable negative results in 48 h, but a presumptive positive (suspect) EIA result must be confirmed by traditional culture methods, requiring an additional 72 h. Polymerase chain reaction (PCR) testing technology is accepted as an...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2003.09.007
更新日期:2004-02-01 00:00:00
abstract::Members of the Mycobacterium chelonae complex (MCC), namely M. chelonae, Mycobacterium abscessus and Mycobacterium immunogenum, have been implicated in nosocomial infections and occupational respiratory illnesses like hypersensitivity pneumonitis (HP) associated with contaminated metalworking fluid (MWF) exposures. Cl...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2004.09.007
更新日期:2005-04-01 00:00:00
abstract::An effective PCR-based genomic walking approach is described to discover previously unknown flanking genomic DNA sequences from Candidatus Liberibacter asiaticus, an unculturable, phloem-limited bacterium. Using this technique, 8564bp of new DNA sequences were obtained from three genomic loci; tufB-secE-nusG-rplKAJL-r...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2007.06.006
更新日期:2008-02-01 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::Several dyes are now known which intercalate into double-stranded DNA with fluorescence enhancement. One such is TOTO (1,1'-(4,4,7,7-tetramethyl-4,7-diazaundecamethylene)-bis-4-[3-meth yl-2,3- dihydro-(benzo-1,3-thiazole)-2-methlyidene]-quinolinium tetraiodide), a homodimer of thiazole orange, whose complexes with DNA...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1006/mcpr.1994.1035
更新日期:1994-06-01 00:00:00
abstract::Angiostrongylus cantonensis, a rat lungworm, can cause eosinophilic meningitis and angiostrongyliasis in humans following ingestion of contaminated foods or intermediate/paratenic hosts with infective larvae. The snail Achatina fulica is one of the important intermediate hosts of A. cantonensis and is commonly eaten b...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2011.04.002
更新日期:2011-08-01 00:00:00
abstract::We have used the polymerase chain reaction (PCR) to detect shigellae, EIEC and ETEC in stool specimens of diarrhoeic patients returning from tropical countries. As compared to culture (7.1% positive specimens), which recognizes only Shigella strains, PCR performed on bacterial growth from directly inoculated MacConkey...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1006/mcpr.1994.1040
更新日期:1994-08-01 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::Mutations in the WDR45 gene have been identified as causative for the only X-linked type of neurodegeneration with brain iron accumulation (NBIA), clinically characterized by global developmental delay in childhood, followed by a secondary neurological decline with parkinsonism and/or dementia in adolescence or early ...
journal_title:Molecular and cellular probes
pub_type: 杂志文章,评审
doi:10.1016/j.mcp.2016.01.003
更新日期:2016-02-01 00:00:00
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::Biotinylated single-stranded RNA probes from two of the eleven genome segments of the simian rotavirus SA11 were synthesized from cloned DNA and used in dot-blot and Northern-blot hybridization assays. Different types of membranes and conditions to prepare and use synthetic non-radioactive transcript probes were evalu...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/0890-8508(89)90004-2
更新日期:1989-09-01 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::Serpulina (Treponema) hyodysenteriae, a Gram-negative anaerobic spirochete, is the causative agent of swine dysentery, a mucohaemorrhagic diarrheal disease in which lesions are confined to the large intestine of pigs. A DNA probe and polymerase chain reaction (PCR) amplification procedures which are specific, rapid , ...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/s0890-8508(95)80035-2
更新日期:1995-04-01 00:00:00
abstract::Mouse hepatitis virus (MHV) infection in laboratory mouse populations is a serious problem, because the MHV infections are known to interfere with research results. Confirmation of indirect serological detection methods by viral isolation is difficult. Reverse transcription plus polymerase chain reaction (RT-PCR) was ...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1006/mcpr.1998.0211
更新日期:1999-02-01 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::A random amplified polymorphic DNA (RAPD) technique using 16 decamer oligonucleotide primers was employed to characterize isolates of Schistosoma japonicum from seven geographical locations (Sj1: Zhejiang; Sj2: Anhui; Sj3: Jiangxi; Sj4: Hunan; Sj5: Hubei; Sj6: Sichuan; Sj7: Yunnan) of the People's Republic of China. D...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1006/mcpr.1996.0048
更新日期:1996-10-01 00:00:00
abstract::PCR detection and quantification of vaginal lactobacilli remains problematic because of the high level of genetic heterogeneity and taxonomic complexity within the genus Lactobacillus. The aim of the present study was to identify conserved sequences among the genomes of major species of vaginal lactobacilli that could...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2016.11.006
更新日期:2017-04-01 00:00:00
abstract::The impact that next-generation sequencing technology (NGS) is having on many aspects of molecular and cell biology, is becoming increasingly apparent. One of the most noticeable outcomes of the new technology in human genetics, has been the accelerated rate of identification of disease-causing genes. Especially for r...
journal_title:Molecular and cellular probes
pub_type: 杂志文章,评审
doi:10.1016/j.mcp.2015.05.015
更新日期:2015-10-01 00:00:00
abstract::Complement C3 'slow' and 'fast' allotypes are associated with immune-mediated disorders and may affect the outcome of renal transplantation. We report a tetra-primer amplification refractory mutation system PCR (T-ARMS-PCR) that provides a rapid, reproducible and cost-effective method to genotype both complement C3 's...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2010.07.002
更新日期:2010-12-01 00:00:00
abstract::Pre-mRNA processing factor 4 (PRPF4), a core protein in U4/U6 snRNP, maintains snRNP structures by interacting with PRPF3 and cyclophilin H. Expression of the PRPF4 gene affects cell survival as well as apoptosis and is responsible for retinitis pigmentosa (RP). Proteomics analysis shows that PRPF4 may be a therapeuti...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2019.101440
更新日期:2019-10-01 00:00:00
abstract::The G-->A transition at nucleotide 21881 of the human catechol-O-methyltransferase (COMT) gene represents a functional genetic polymorphism (Val158Met), rendering an enzyme with reduced activity that has been associated with psychiatric disorders and estrogen-related cancers. A new method for the detection of this pol...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2006.12.001
更新日期:2007-06-01 00:00:00
abstract::The aim of the present study was to evaluate a mixed phase DNA hybridization assay for detection of Bordetella pertussis and Bordetella parapertussis in nasopharyngeal aspirates from patients with suspected pertussis. Among 179 consecutive patients with own or parental suspicion of pertussis, the diagnosis was confirm...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/0890-8508(90)90021-q
更新日期:1990-08-01 00:00:00