Materials and Methods for Identifying Spinal Muscu

专利名称：Materials and Methods for Identifying Spinal

Muscular Atrophy Carriers

发明人：Lisa Edelmann,Robert J. Desnick申请号：US14122871申请日：20120607

公开号：US20140199695A1公开日：20140717

摘要：Materials and methods for identifying carriers of genetic determinants of spinalmuscular atrophy are disclosed. In particular, polymorphisms in linkage disequilibrium areassociated as markers of spinal muscular atrophy alleles detectable by various

techniques, including multiplex ligation-dependent probe analysis, sequence analysis, andRFLP detection. The materials and methods of the disclosure are particularly useful inidentifying silent (2+0) carriers of spinal muscular atrophy in which two copies of theSMN1 gene are located on a single human chromosome 5 and no copies of the gene arelocated on the chromosome 5 homolog.

申请人：Lisa Edelmann,Robert J. Desnick

地址：Bronx NY US,New York NY US

国籍：US,US

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