• Gray, Joe (PI)
  • Pinkel, Daniel (PI)

Project: Research project

Project Details


The overall goal of this application is to develop analytical
cytology and fluorescence in situ hybridization for improved
prenatal detection of genetic disease. Specific aims include: 1)
Final optimization of bivariate flow karyotyping for detection of
numerical and structural chromosome aberrations. After
optimization, flow karyotyping will be applied to study the
heritability of normal chromosome polymorphisms and to
detection of clinically important structural chromosome
aberrations that involve changes in chromosomal DNA content or
base composition of less than 0.5%. 2) Development of
fluorescence in situ hybridization (called fluorescence
hybridization) and chromosome- specific-nucleic acid probes to
allow identification and enumeration of human chromosomes 21,
18, 13, X and Y in metaphase and interphase cells taken for
prenatal diagnosis (ie. during amniocentesis or chorionic villus
biopsy). Chromosome specific nucleic acid probes will be either;
collections of unique sequence probes selected from recombinant
DNA libraries made using DNA from a single chromosome, or
chromosome specific repeat sequence probes. The unique
sequence probe collections will be designed to produce uniform
fluorescence hybridization along the length of a chromosome.
The repeat sequence probes will allow fluorscence hybridization
to limited chromosome regions (eg. to chromosome centromeres).
These studies will facilitate detection of aberrant chromosomes
by allowing more distinctive staining of selected metaphase
chromosomes and/or by allowing detection of aneuploidy in
interphase cells thereby eliminating time consuming cell culture.
3) Development of analytical cytologic procedures for selection of
fetal cells from maternal blood and for detection of chromosomal
aneuploidy involving chromosomes 21, 18, 13, X and Y in
interphase fetal cells from maternal blood using fluorescence
hybridization. These studies should firmly establish the presence
of fetal cells in maternal blood, allow determination of their
frequency as a function of fetal age and lead to a non-invasive
procedure for fetal cytogenetic analysis.
Effective start/end date9/30/823/31/01


  • National Institutes of Health: $540,805.00


  • Medicine(all)


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