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My research is focused on the study of genetic diseases using conventional and molecular cytogenetic techniques. Conventional cytogenetics using GTG banding is a powerful, established technique that enables the examination of the entire human genome at a glance. Fluorescent in situ hybridization (FISH) is a relatively new adjunct technique that has been extensively utilized by out laboratory for multiple applications. These include the mapping of genes on human metaphase chromosomes, the analysis of somatic and radiation hybrids, the identification of marker chromosomes in cancer and other genetic diseases, the study of aneuploidy in interphase cells in cytological smears such as semen and buccal smears and the study of chromosome copy number in formalin-fixed paraffin-embedded archival material of uterine, salivary, breast and other cancers. An example of one project is our recent study of chromosome 8 trisomy in breast cancer.
Mark, H.F.L., Ahearn, J. and Lathrop J.C. Constitutional trisomy 8 mosaicism and gestational trophoblastic disease. Cancer Genet. Cytogenet. 80:150-154, 1995. Mark, H.F.L., Naram, R., Singer, J.T., Rice, R.W., Bastan, W., Beauregard, L.J., & LaMarche, P.H. Cytotoxicity and genotoxicity of wood drying condensate from Southern Yellow Pine: an in vitro study. Mutation Res. 342:191-196, 1995. |
 Assistant Professor Ph.D., Brown University Rhode Island Hospital, APC, 1131 444-5371 [email protected] |