Genetics
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Beverly S. Emanuel

Professor
Genetics
Pennsylvania State University
United States of America

Biography

Dr. Beverly S. Emanuel is affiliated to Genetics, The University of Pennsylvania Health System. Dr. Beverly S. Emanuel is currently providing services as Professor. Dr. Beverly S. Emanuel authored and co-authored multiple molecular analyses of deletion and translocation breakpoint regions. We continue to analyze the t(11;22)(q23;q11), the only recurrent non-Robertsonian constitutional translocation in man. We have finally isolated and examined the breakpoint of the t(11;22). The identification of unusual DNA structures (palindromic AT-rich repeats) at the breakpoints suggest a mechanism for the instability of chromosomes 11 and 22 as well as the molecular similarity of the breakpoint region in numerous unrelated families. The role of these sequences in other translocations of chromosome 22 is being investigated. Further, we are examining the physical arrangements and rearrangements of chromosome 11 and 22 during meiosis. Techniques such as fluorescence in situ hybridization, PCR, Southern blot and pulsed-field gel electrophoresis are among the many techniques used in my laboratory to investigate the etiology of various chromosomal disorders..

Research Interest

molecular analyses of deletion and translocation breakpoint regions. We continue to analyze the t(11;22)(q23;q11), the only recurrent non-Robertsonian constitutional translocation in man. We have finally isolated and examined the breakpoint of the t(11;22). The identification of unusual DNA structures (palindromic AT-rich repeats) at the breakpoints suggest a mechanism for the instability of chromosomes 11 and 22 as well as the molecular similarity of the breakpoint region in numerous unrelated families. The role of these sequences in other translocations of chromosome 22 is being investigated. Further, we are examining the physical arrangements and rearrangements of chromosome 11 and 22 during meiosis. Techniques such as fluorescence in situ hybridization, PCR, Southern blot and pulsed-field gel electrophoresis are among the many techniques used in my laboratory to investigate the etiology of various chromosomal disorders.

Publications

  • Nimmakayalu MA, Gotter AL, Shaikh TH, Emanuel BS (2003) A novel sequence-based approach to localize translocation breakpoints identifies the molecular basis of a t(4;22) Human Molecular Genetics 12: 2817-25.

  • DeBerardinis RJ, Conforto D, Russell K, Kaplan J, Emanuel BS, et al. (2003) Myoclonus in a patient with a deletion of the epsilon-sarcoglycan locus on chromosome 7q21 American Journal of Medical Genetics 121A: 31-6.

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