Abstract:
:Congenital heart disease (CHD) is a common cardiac defect found in infants and children. Despite advances in diagnosis and treatment, our understanding of the causative mechanism and etiology of CHD is limited. To determine the genetic etiology of CHD, we selected 11 consecutive short tandem-repeat polymorphic (STRP) markers located in the interval of the 22q11.2 region to perform genotype analysis on a large number of CHD patients (>120) and their normal relatives (>220). The results show that as regards the distribution of allelic size and frequency of these STRP markers, there were no significant differences between the CHD patients and the normal volunteers. This indicates that there is no linkage disequilibrium with these markers in CHD. In the level of heterozygosity for each marker in nonsyndromic CHD and conotruncal heart defect (CTD), there were no significant differences between the two populations. In syndromic CHD, the level of heterozygosity for D22S1648 was significantly lower than that observed in the unaffected population (chi(2) = 11.25; P = 0.001). This suggests that there may be a deletion at the D22S1648 locus, and the low heterozygosity of D22S1648 indicates that this marker can be used as a genetic marker for detecting microdeletions in 22q11.2. With the use of fluorescence in situ hybridization (FISH) and real-time quantitative polymerase chain reaction (PCR) performed on syndromic patients, we confirmed the molecular results.
journal_name
J Clin Lab Analjournal_title
Journal of clinical laboratory analysisauthors
Shi YR,Hsieh KS,Wu JY,Lee CC,Tsai CH,Yu MT,Chang JS,Tsai FJdoi
10.1002/jcla.10062subject
Has Abstractpub_date
2003-01-01 00:00:00pages
28-35issue
1eissn
0887-8013issn
1098-2825journal_volume
17pub_type
杂志文章abstract:BACKGROUND:Spinal tuberculosis is the most common form of musculoskeletal tuberculosis. The expression of matrix metalloproteinase-1 (MMP-1) is increased in cells with Mycobacterium tuberculosis infection. MMP-1 plays a curial role in extracellular matrix degradation during the progression of tuberculosis. Although the...
journal_title:Journal of clinical laboratory analysis
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journal_title:Journal of clinical laboratory analysis
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journal_title:Journal of clinical laboratory analysis
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journal_title:Journal of clinical laboratory analysis
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journal_title:Journal of clinical laboratory analysis
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更新日期:2016-11-01 00:00:00
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journal_title:Journal of clinical laboratory analysis
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doi:10.1002/jcla.1860090504
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abstract:BACKGROUND:Aberrant levels of circulating microRNAs (miRNAs) are potential biomarkers in papillary thyroid carcinoma (PTC) diagnosis and therapy. The aim of this study was to evaluate serum exosomal miR-29a expression as a non-invasive biomarker for PTC diagnosis and prognosis. METHODS:Quantitative reverse transcripti...
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journal_title:Journal of clinical laboratory analysis
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journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
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journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章,meta分析
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更新日期:2020-10-01 00:00:00
abstract:BACKGROUND:Recently, several studies have investigated the relationship between Pre-miR-27a rs895819 polymorphism and risk of various cancers. However, the relationship between rs895819 and diffuse large B-cell lymphoma (DLBCL) has not been well known. METHODS:In this study, we conducted a case-control study to explor...
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journal_title:Journal of clinical laboratory analysis
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abstract::Type IV collagen is a major component released from the glomerular and tubular basement membranes. To investigate the alteration of renal type IV collagen turnover in early stage diabetic nephropathy, urinary type IV collagen was measured by a highly sensitive one-step sandwich enzyme immunoassay (EIA). Urinary sample...
journal_title:Journal of clinical laboratory analysis
pub_type: 杂志文章
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