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::Hypertriglyceridemia (HTG) plays an important role in the development and progression of atherosclerosis. It is inherited in an autosomal dominant pattern with a frequency of approximately 1:1,000,000 worldwide. Previous study has demonstrated that more than six genes underlie this disorder. In addition, copy number v...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2017.11.002
更新日期:2018-02-01 00:00:00
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journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/0890-8508(90)90013-p
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journal_title:Molecular and cellular probes
pub_type: 杂志文章
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更新日期:2015-08-01 00:00:00
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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
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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
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journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1006/mcpr.1996.0071
更新日期:1997-02-01 00:00:00
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journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2012.08.007
更新日期:2013-02-01 00:00:00
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journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/s0890-8508(02)00110-x
更新日期:2003-02-01 00:00:00
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journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/s0890-8508(95)80038-7
更新日期:1995-04-01 00:00:00
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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
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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: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
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journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2006.03.007
更新日期:2006-12-01 00:00:00
abstract::Technologies that permit rapid investigation of DNA sequences, such as those containing single nucleotide polymorphisms (SNPs), are of great consequence to many sectors that perform molecular diagnostic analyses. We have developed a novel fluorescent oligonucleotide probe technology, termed HyBeacons, which provides a...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1006/mcpr.2001.0384
更新日期:2001-12-01 00:00:00
abstract::Several systems for isolating viruses from environmental samples have been tested. The most promising method is based on genomic amplification. The authors attempted to detect adenovirus in nucleic-acid extracts from the Seine River estuary by a two-step amplification of a 220-bp segment of the conserved coding region...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1006/mcpr.1998.0166
更新日期:1998-06-01 00:00:00
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journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1006/mcpr.1994.1017
更新日期:1994-04-01 00:00:00
abstract::Long-term infection with high-risk HPV genotypes is the leading cause of cervical cancer. In the present study a Duplex Real-time PCR assay was developed in order to identify HPV types 16, 18, 31, 35, 51 and 66 in three reactions, through SYBR green I melting curve analysis. The method utilizes type-specific primer se...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2014.09.003
更新日期:2015-02-01 00:00:00
abstract::In order to determine whether polymerase chain reaction (PCR) could be used to detect Campylobacter jejuni directly in stool samples, DNA from 66 frozen culture positive and negative fecal samples was purified by column chromatography. The flaA gene was amplified using primers directed against the conserved 5' and 3' ...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1006/mcpr.1996.0011
更新日期:1996-04-01 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::In this paper we describe a reverse-transcription nested polymerase chain reaction method for detecting human astrovirus serotype 1. It has been evaluated on 56 UK diarrhoeal stool specimens and six non-UK specimens. The method has greater sensitivity than electron microscopy and may be a useful test in areas such as ...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1006/mcpr.1994.1069
更新日期:1994-12-01 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
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journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1006/mcpr.1997.0108
更新日期:1997-06-01 00:00:00
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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::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::A simple assay format was developed for the direct detection of C. trachomatis rRNA utilizing ligation of recombinant MDV-1 probe RNA fragments hybridized to 23S rRNA after capture and release from a solid support. Assay background (equivalent to 10(4) targets) was suppressed by blocking sequences in the 5' MDV report...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1006/mcpr.1997.0135
更新日期:1997-12-01 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::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::A DNA probe is described that can be used for identification of Providencia stuartii by means of filter hybridization assays. The probe, which is a fragment of the P. stuartii phoN gene coding for an acid phosphatase, appeared to be able to recognize only P. stuartii strains in slot-blot hybridization experiments perf...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/0890-8508(92)90036-w
更新日期:1992-10-01 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::Tomato black ring virus (TBRV) infects a wide range of economically important plant species worldwide. In the present study we developed a locked nucleic acid (LNA) real-time RT-PCR assay for accurate detection of genetically diverse TBRV isolates collected from different hosts. The assay based on the LNA probe has a ...
journal_title:Molecular and cellular probes
pub_type: 杂志文章
doi:10.1016/j.mcp.2014.12.002
更新日期:2015-02-01 00:00:00