Linked Life Data

19371229

Source:http://linkedlifedata.com/resource/pubmed/id/19371229

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2009-4-17
pubmed:abstractText
Rett syndrome (RS) is an X-linked dominant neurodevelopment disorder with normal prenatal and postnatal development till 6-18 months, followed by stagnation and regression of acquired skills. RS primarily manifests in females, and there are a few reports with males having RS. Sporadic or de novo mutations of the methyl CpG binding protein 2 (MECP2) gene have been reported in 70-90% of affected girls. Conventional methods such as fluorescence in situ hybridization, real-time PCR, southern blotting, multiplex ligation-dependent probe amplification, and DNA sequencing have been previously reported for the detection of insertions or deletions in the MECP2 gene. Here, we report detection of two deletions of 44 bp (c.1157_1200del44 or p.L386fs) and 38 bp (c.1151_1188del38 or p.P384fs) in exon 4 or C-terminal segment (CTS) region of MECP2 using a simple PCR technique that is rapid, accurate, and cost effective as compared to other techniques. The deletions were detected by routine PCR amplification followed by 2% agarose gel electrophoresis. We suggest that a simple PCR can easily detect deletions in the hotspot CTS region of the MECP2 gene and can be used for routine molecular diagnostics of RS.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
1945-0257
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
13
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
277-80
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Rapid detection of deletions in hotspot C-terminal segment region of MECP2 by routine PCR method: report of two classical Rett syndrome patients of Indian origin.
pubmed:affiliation
Genetics Unit, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't