Compositions and methods for determining genetic p

专利名称：Compositions and methods for determining

genetic polymorphisms in the TMEM216gene

发明人：Joseph G. Gleeson,Jennifer Silhavy,Enza

Maria Valente,Francesco Brancati

申请号：US13098345申请日：20110429公开号：US08614094B2公开日：20131224

摘要：In alternative embodiments, the invention provides nucleic acid sequences thatare genetic polymorphic variations of the human TMEM216 gene, and TMEM216polypeptide encoded by these variant alleles. In alternative embodiments, the inventionprovides methods of determining or predicting a predisposition to, or the presence of, aciliopathy (or any genetic disorder of a cellular cilia or cilia anchoring structure, basalbody or ciliary function) in an individual, such as a Joubert Syndrome (JS), a JoubertSyndrome Related Disorder (JSRD) or a Meckel Syndrome (MKS). In alternative

embodiments, the invention provides compositions and methods for the identification ofgenetic polymorphic variations in the human TMEM216 gene, and methods of using theidentified genetic polymorphisms and the proteins they encode, e.g., to screen forcompounds that can modulate the human TMEM216 gene product, and possibly treat JS,JSRD or MKS.

申请人：Joseph G. Gleeson,Jennifer Silhavy,Enza Maria Valente,Francesco Brancati

地址：San Diego CA US,San Diego CA US,Rome IT,Rome IT

国籍：US,US,IT,IT

代理机构：Gavrilovich, Dodd & Lindsey LLP

代理人：Gregory P. Einhorn

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