Linked Life Data

20001582

Source:http://linkedlifedata.com/resource/pubmed/id/20001582

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2009-12-16
pubmed:abstractText
Small submicroscopic DNA copy number variants represent an important source of variation in the human genome, human phenotypic diversity, and disease susceptibility. Consequently, there is a pressing need for the development of methods allowing the efficient, accurate, and cheap measurement of genomic copy number polymorphisms in clinical cohorts. The PCR-based strategies, being cost-effective and sensitive, are considered important in the development of screening techniques. PCR-based techniques such as multiplex PCR; multiplex ligation-dependent probe amplification; and a new single-tube assay technique, the competitive fluorescent multiplex STRP assay, have been applied to 22q11.2 detection, a typical example of deletion syndromes. In this study, we compared the reliability and application of these three techniques in a cohort of 17 patients affected with 22q11.2 deletion and 300 normal controls. All three techniques shared 100% sensitivity; however, the competitive fluorescent multiplex STRP assay had the lowest possibility of concurrent false-positive signals from two adjoining probes in a genomic region. Moreover, it is a relatively fast and low-cost procedure to detect the deletion of 22q11.2 in numerous patients with several minor symptoms of deletion syndromes. Multiplex PCR, a rapidly developing and cheap technique, allows detection of atypical deletions.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
1945-0257
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
13
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
803-8
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Comparative study of three PCR-based copy number variant approaches, CFMSA, M-PCR, and MLPA, in 22q11.2 deletion syndrome.
pubmed:affiliation
Department of Medical Genetics, Nanjing University School of Medicine, Nanjing, China.
pubmed:publicationType
Journal Article, Comparative Study, Research Support, Non-U.S. Gov't