Method for Finding Mutations Caused by the Insertion of Repeated DNAs

Retrotransposons are very abundant mobile components of the human genome. They can move from one site to another in the genome. Retrotransposons move from place to place via an RNA intermediate and reverse transcription. They are thus distinct from DNA transposons which move directly at the level of DNA. In the human genome, retrotransposons vastly outnumber DNA transposons and thus are the main topic of this disclosure. Nevertheless, DNA transposons also can insert into genes and hence are an additional subject of this method. Several methods are described for screening for the presence of retrotransposon insertions into human genes. The most useful of these is based on the use of a DNA microarray called a Human Repeat Array (HuRA). This method is appealing because it is automatable. These methods can be applied genome wide, and can be applied to other organisms for finding mutations controlling complex traits. These methods can also be used to uncover repeat insertion mutations in diseases like cancers in which there is extensive rearrangement of the genome. It may be useful both for stratify tumor types and for identification of tumor suppressor genes Description (Set) Proposed Use (Set) Human disease genes, especially for those common diseases which are controlled by multiple genes, are difficult to identify. The described invention simplifies and automates this process. Patent (Set) WO2004/106490

Inventor(s): Boeke, Jef D.

Type of Offer: Licensing

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