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I am a human geneticist investigating several diseases caused by abnormalities of human chromosomes, particularly chromosome 22. Changes in the genes on this chromosome can cause developmental abnormalities and mental retardation. With my colleagues, I have determined that the majority of patients with DiGeorge Syndrome (DGS) and Velocardiofacial Syndrome (VCFS) carry a deletion of the same region of chromosome 22. We also developed the standard diagnostic test, used by labs worldwide, to assess the presence of a deletion and the likelihood of recurrence of deletion-based DGS/VCFS. We are also investigating the duplication of genes on this chromosome that give rise to other chromosomal disorders such as Supernumerary der(22) Syndrome. These studies will provide greater insight into the causes of some genetic diseases.
In the laboratory, we are conducting 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.
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mag(2013)
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