Rivka Ofir Ph.D.
Genetics, Molecular, Cellular and Developmental Biology
Normal DNA sequence variation such as fast evolving short tandem repeat polymorphisms (STRPs) and more slowly evolving markers such as restriction-fragment-length polymorphism (RFLP), single nucleotide polymorphisms (SNPs), etc. have made Homo sapiens amenable to many types of genetic analysis. We are using these polymorphisms to search for genes responsible for several inherited disorders showing Mendelian pattern, and for complex human disorders that fail to show a Mendelian pattern but do "run in families". For these studies, we have family data, on which diagnostic evaluations are performed. These families are subjected to complete 10 cM genome scans following by candidate gene approach in search for genetic loci/genes involved in the diseases.
Harel T., Yael Goldberg, Stavit A. Shalev, Ilana Chervinski, Rivka Ofir, Ohad S. Birk. 2003 Limb girdle muscular dystrophy 2I: Phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation. European J. of Human Genetics, submitted.
Udy Bar-Yosef, Eric Ohana, Eli Hershkovitz, Sarit Perlmuter, Rivka Ofir, Ohad S. Birk. 2003 X-Linked Spondyloepiphyseal Dysplasia Tarda: A Novel SEDL Mutation in a Jewish Ashkenazi Family and Clinical Intervention Considerations. Am. J. of Medical Genetics, Submitted.