Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0012872 (DNA marker)
 929 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The familial long-QT syndrome (LQTS) is an infrequently occurring disorder in which affected family members have QT prolongation on the ECG, often associated with recurrent syncope and fatal ventricular arrhythmias. Autosomal recessive and autosomal dominant modes of inheritance were suggested by the pattern of occurrence of this disorder in the first reported LQTS families. Statistical genetic analysis (segregation analysis) has substantiated a major gene effect on QTc length in two large pedigrees. Gene linkage studies have uncovered tight linkage between a DNA marker at the Harvey ras-1 locus on chromosome 11 and LQTS in one large pedigree, substantiating a genetic basis of this disorder.
Trends Cardiovasc Med
PMID:The long-QT syndrome Genetic considerations. 2123 64

Positional cloning or reverse genetics is a combination of techniques that has been extraordinarily successful in finding the genes that cause many inherited disorders, including some that affect the cardiovascular system. This approach consists of finding a DNA marker that cosegregates with the disorder and then using the tools of molecular biology to examine systematically the DNA in the vicinity of such a marker until the gene is identified. In addition to the availability of preclinical diagnostic tests for individuals at risk, the identification of such genes might also provide the basis for targeted drug design. In the longer term, with the emerging technologies for the delivery of genes into cells, finding the genes that cause inherited disorders raises the possibility of eventual therapeutic intervention.
Trends Cardiovasc Med
PMID:Identification of disease genes by positional cloning. 2124 87