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AssigneeMedical Research Council
InventorsJulian R. Sampson, Mark David Nellist, Phillip Brook-Carter, Magitha Maheshwar, Dirkje Jorijnte Johanna Halley, Lambertus Antonius Jacobus Janssen, Arjenne Lique Wilhelma Hesseling, Anna Maria Wilhelmina van den Ouweland, Peter Charles Harris, Christopher James Ward, Martin Hendrik Breuning, Jeroen Hendrik Roelfsema
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Tuberous sclerosis (TSC) is an autosomal dominant disorder characterised by widespread development of growths in many tissues and organs. A gene (TSC2) is identified on chromosome 16 which is mutated in TSC and which may behave as a tumour suppressor. Screening of actual or suspected TSC patients for normal or mutated TSC2 can be used for diagnostic purposes. TSC2 protein (tuberin) may be used to treat or prevent unrestrained cell division and/or tumour development in patients with or without TSC.
A method for screening a subject to determine whether said subject is a TSC2-associated disorder carrier or a patient having a TSC2-associated disorder, which method comprises detecting the presence of and/or evaluating the characteristics of TSC2 DNA, TSC2 RNA and/or TSC2 polypeptide in a biological sample from said patient, wherein a difference in the presence and/or characteristics of said TSC2 DNA, TSC2 RNA and/or TSC2 polypeptide between said biological sample and the presence and/or characteristics of TSC2 DNA, TSC2 RNA and/or TSC2 polypeptide in a biological sample from a subject not carrying or afflicted with a TSC2-associated disorder is indicative of the presence, predisposition or tendency of the patient to develop a disorder.
A method for screening a subject to determine whether said subject is a TSC2-associated disorder carrier or a patient having a TSC2-associated disorder, which method comprises detecting the presence of and/or evaluating the characteristics of TSC2 nucleic acid in a biological sample from said patient with a probe comprising the sequence presented in SEQ ID No.:1.
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