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

The long-QT syndrome (LQT; Ward-Romano syndrome) is a cardiac disorder that is inherited as an autosomal dominant trait. Affected family members suffer from recurrent syncope and sudden death due to ventricular arrhythmias. Recently, we identified a DNA marker on the short arm of chromosome 11 (the Harvey ras-1 locus [H-ras-1]) that was completely linked to the LQT locus in one large family. In the study presented here, we performed linkage investigations on six new and unrelated families with LQT. The LQT locus was again completely linked to the H-ras-1 locus in all families examined, with a combined lod score of 5.25 at a recombination fraction of 0. This work confirms our previous assignment of the LQT locus to chromosome 11p and supports the hypothesis that LQT is genetically homogeneous. As no obligate recombinants were identified in either this or our previous study, the H-ras-1 protooncogene remains a candidate for the LQT disease gene. Identification of LQT families with locus homogeneity is an important step in the development of a refined genetic map of this locus and will help determine whether the H-ras-1 marker would be of general use for presymptomatic diagnosis of this potentially fatal, but treatable, disorder.
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PMID:Consistent linkage of the long-QT syndrome to the Harvey ras-1 locus on chromosome 11. 174 60

Romano-Ward syndrome is an autosomal dominant trait disease, which is characterized by QT prolongation and normal hearings and shows predisposal to sudden death from cardiac arrhythmia. Recently, Keating et al. reported that Harvey ras-1 locus (H-ras-1) was closely linked to long QT syndrome (LQTS), being located on the short arm of chromosome 11. In this study we have examined a three-generation Japanese family whose members had recurrent fainting with prolongation of the QT interval on electrocardiogram. Using the H-ras-1 probe as DNA marker, we could not determine that the H-ras-1 gene was linked to LQTS. LQTS seems to be a genetically heterogeneous disease. Further study is needed to clarify the chromosomal location of the LQTS.
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PMID:[Linkage analysis in a Japanese long QT syndrome family]. 848 55

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.
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PMID:The long-QT syndrome Genetic considerations. 2123 64