Linked Life Data

15221641

Source:http://linkedlifedata.com/resource/pubmed/id/15221641

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
8
pubmed:dateCreated
2004-8-31
pubmed:abstractText
Achondroplasia is a common form of human dwarfism with characteristically rhizomelic shortening of extremities and relative macrocephaly. It is transmitted as an autosomally dominant inheritance, and about 80% of affected individuals result from sporadic mutations without positive family histories. Achondroplasia comes from the genetic point mutations in the fibroblastic growth factor receptor 3 gene (FGFR3), which enables abnormal cartilage growth-plate differentiation and insufficient bony development. The most common genetic mutations in this receptor are G to A at position 1138 (G1138A), which result in the substitution of glycine to arginine at codon 380. Based on genetic information, molecular genetic testing can provide an exact diagnosis comparing to radiological and prenatal ultrasound evaluations. Here we introduce denaturing high-performance liquid chromatography (DHPLC) for the detection of 17 cases of achondroplasia and 120 unaffected cases. After coupling heteroduplex and fluorescence-enhanced primer-extension analysis, all affected patients with G1138A were identified successfully. In conclusion, we demonstrated that DHPLC is an efficient, accurate, and sensitive technique to detect the single gene mutation of achondroplasia in clinical applications.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1434-5161
pubmed:author
pubmed:issnType
Print
pubmed:volume
49
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
399-403
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed:year
2004
pubmed:articleTitle
Rapid detection of FGFR3 gene mutation in achondroplasia by DHPLC system-coupling heteroduplex and fluorescence-enhanced primer-extension analysis.
pubmed:affiliation
Department of Medical Genetics, National Taiwan University Hospital, National Taiwan University, Taipei, Taiwan, ROC.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't, Evaluation Studies