The objective of the Fluorescence In Situ Hybridization (FISH) core is to provide high quality and cost effective state-of-the-art molecular cytogenetic analyses (as well as conventional chromosome analyses) to all MRDDRC investigators, to enhance research efforts on disorders related to mental retardation and developmental disabilities. The FISH core also provides a “special skill support” enabling MRDDRC investigators to access important methodology for genome analyses. Other major services offered by the FISH core are: (i) Provide analyses for detection and confirmation of submicroscopic DNA rearrangements; including deletions, duplications, and inversions; (ii) Provide genomic mapping by FISH in human and primate cell lines; (iii) Provide a simultaneous analysis of all of the chromosome end structures, or telomeres, by telomere FISH.

Genetic lesions that result in MRDD can often take the form of major alterations in the genomes of patients. This core provides access to state of the art services to MRDDRC investigators for analysis of patient genomes that is not readily duplicated in individual laboratories. The core enables investigators to perform metaphase and interphase FISH studies as well as analysis of all chromosome telomeres by FISH. In addition, mapping of specific genomic clones by FISH is available. The expertise to perform typical G-banded karyotyping and to analyze chromosomes is available through this core as well. All investigators interested in studies of patients with developmental delay or mental retardation of unknown etiology require access to an analysis of the genome that is provided through the FISH core. The expertise in the core also provides the ability for investigators to carry out more sophisticated studies, including those of other species (primates, mouse) in support of studies of models for MRDD.

This core will continue to provide conventional cytogenetic analysis as well as fluorescence in situ hybridization including metaphase FISH analysis, interphase FISH analysis, FISH mapping, and telomere FISH.

© 2003 Baylor College of Medicine - Mental Retardation and Developmental Disabilities Research Center
Phone: (713) 798-7353    Fax: (713) 798-8704    Houston, Texas 77030    E-mail: mrddrc@bcm.tmc.edu
Modified November 25, 2003