Homozygous mutation in KVLQT1 which causes Jervell and Lange Nielsen syndrome
AssigneeUniversity of Utah Research Foundation
InventorsIgor Splawski, Mark T. Keating
Life of this patent
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Abstract
Jervell and Lange-Nielsen syndrome (JLN) is an autosomal recessive form of long QT syndrome. In addition to QT interval prolongation, this disorder is associated with congenital deafness. JLN is rare, but affected individuals are susceptible to cardiac arrhythmias with a high incidence of sudden death and short life expectancy. A homozygous mutation in KVLQT1, the potassium channel gene responsible for chromosome 11-linked long QT syndrome, is shown to be a cause of JLN.
Claims34
An isolated DNA fragment or polynucleotide comprising DNA coding for a mutant polypeptide of SEQ ID NO:80 which causes Jervell and Lange-Nielsen Syndrome (JLN) when homozygous.
A method for diagnosing a polymorphism which causes JLN comprising:
- a) amplifying a portion of a gene or RNA encoding a polypeptide of SEQ ID NO:80 to obtain an amplified portion wherein said portion comprises base 282 of SEQ ID NO:79,
- b) measuring the size of said amplified portion, and
- c) determining whether an insertion has occurred,
- wherein the presence of said insertion is indicative of JLN when it is homozygous.
A method for diagnosing a polymorphism which causes JLN when a person is homozygous for said polymorphism, said method comprising using a single-stranded conformation polymorphism technique to assay for said polymorphism.
A method for diagnosing in a person a polymorphism which causes JLN comprising:
- a) amplifying a portion of a gene or RNA encoding a polypeptide of SEQ ID NO:80 to produce an amplified portion wherein said portion comprises base number 282 of SEQ ID NO:79, and
- b) sequencing said portion wherein an insertion of a single base in both copies of said person's gene or RNA as compared to a gene of SEQ ID NO:79 is indicative of JLN.
A method for diagnosing a polymorphism which causes JLN comprising identifying a mismatch between a patient's DNA or RNA and a wild-type DNA or RNA probe wherein said probe hybridizes to the region of DNA encompassing nucleotides 282-283 of SEQ ID NO:79.
A cell transfected with RNA encoding human mutant KVLQT1.
A method for diagnosing a polymorphism which causes JLN comprising sequencing the KVLQT1 genes in a patient's sample of DNA to determine the presence or absence of a mutation which causes JLN when homozygous.
A method for diagnosing a polymorphism which causes JLN comprising sequencing the KVLQT1 RNA in a patient's sample of RNA to determine the presence or absence of a mutation which causes JLN when homozygous.
A method for diagnosing a polymorphism which causes JLN comprising determining the KVLQT1 gene sequence in a patient by preparing cDNA from RNA taken from the patient and sequencing said cDNA to determine the presence or absence of a mutation which causes JLN, wherein if said mutation is homozygous then JLN is present.
A nucleic acid vector comprising DNA coding for a mutant human KVLQT1 polypeptide which causes JLN.
A method for diagnosing the presence of JLN wherein said method comprises determining the presence of a mutation in each chromosomal copy of KVLQT1 wherein if a person has a mutation in each copy then said person has JLN.
Dependencies are inferred from the claim text.