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Mazin B. Qumsiyeh |
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| Associate Professor of Genetics; Director, Cytogenetics Laboratory |
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* .Sc. Jordan University, Amman
* M.Sc. University of Connecticut
* Ph.D. Texas Tech University
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| Research Interests: | |
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* Cytogenetics
* Cancer genetics
* Mechanisms and impact of chromosome abnormalities
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| Current Research: | |
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Chromosome rearrangements (CR) are of significant medical and biological interest for many reasons: 1) CR account for the majority of cases of infertility and fetal loss in the first trimester. 2) There are over 400 clinical syndromes with specific chromosome abnormalities. 3) Significant diagnostic and prognostic values are attached to CR in somatic cells leading to cancer (especially useful in leukemias and lymphomas). 4) CR played a role in evolution and speciation. The molecular cytogenetics lab has diverse research interests centering on elucidating the mechanisms and implications of genome change. We are especially interested in mechanisms common to acquired somatic aberrations (e.g. oncogene rearrangements and gene amplification), to constitutional rearrangements (e.g. chromosome rearrangements in congenital disorders), and to chromosome rearrangements in evolution. The involvement of repetitive DNA and replication origins in such diverse processes as gene amplification and chromosome translocations suggests that a common mechanism may be operational. To answer some of the research questions posed, we have utilized techniques as diverse as routine G-banding, fluorescence in situ hybridization (FISH), comparative genomic hybridization (CGH), microdissection, polymerase chain reaction (PCR), and 3D nuclear reconstruction.
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| Examples of some of our recent data include: 1) the demonstration of a potential mechanism of chromosome abnormalities on fetal loss, 2) contributions towards elucidation of mechanisms of chromosome evolution and gene amplification, 3) the use of CGH to dissect early events in carcinogenesis (melanoma and choriocarcinomas), and 4) experiments concerning the effect of chromosome rearrangements on nuclear structures and gene expression.
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| Future research projects: (1) examining changes in position and function of rearranged chromosomes in interphase nuclei, (2) understanding the distribution and significance of particular chromosomal rearrangements in populations and species and predicting gene map positions by G-banding studies, (3) examining expression of genes in chromosome rearrangements leading to fetal loss, (4) examining the relationship between chromosomal rearrangements and the process of gene amplification, and (5) delineating chromatin structure in relation to chromosome banding.
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| Our diverse experience in evolution, cytogenetics, protein biochemistry, medical genetics, and molecular genetics allows us to address mechanisms and implications of genome change both in evolution and in human diseases.
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| Representative Publications: | | |
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