DETAILED DESCRIPTION OF THE INVENTION The present invention relates to alterations in the KVLQT1, HERG, SCN5A, KCNE1 and KCNE2 genes and methods for detecting such alterations.
The alterations in the KVLQT1, HERG, SCN5A, KCNE1 and KCNE2 genes include mutations and polymorphisms.
Included among the mutations are frameshift, nonsense, splice, regulatory and missense mutations.
Any method which is capable of detecting the mutations and polymorphisms described herein can be used.
Such methods include, but are not limited to, DNA sequencing, allele-specific probing, mismatch detection, single stranded conformation polymorphism detection and allele-specific PCR amplification.
KVLQT1, HERG, SCN5A, KCNE1 and KCNE2 mutations cause increased risk for LQTS.
Many different mutations occur in KVLQT1, HERG, SCN5A, KCNE1 and KCNE2.
In order to detect the presence of alterations in the KVLQT1, HERG, SCN5A, KCNE1 and KCNE2 genes, a biological sample such as blood is prepared and analyzed for the presence or absence of a given alteration of KVLQT1, HERG, SCN5A, KCNE1 or KCNE2.
In order to detect the increased risk for LQTS or for the lack of such increased risk, a biological sample is prepared and analyzed for the presence or absence of a mutant allele of KVLQT1, HERG, SCN5A, KCNE1 or KCNE2.
Results of these tests and interpretive information are returned to the health care provider for communication to the tested individual.
Such diagnoses may be performed by diagnostic laboratories or, alternatively, diagnostic kits are manufactured and sold to health care providers or to private individuals for self-diagnosis.
The presence of hereditary LQTS may be ascertained by testing any tissue of a human for mutations of the KVLQT1, HERG, SCN5A, KCNE1 or KCNE2 gene.
For example, a person who has inherited a germline HERG mutation would be prone to develop LQTS.
This can be determined by testing DNA from any tissue of the person's body.
Most simply, blood can be drawn and DNA extracted from the cells of the blood
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Gene Therapy 
