# MOLECULAR ANALYSIS OF HUMAN CHROMOSOME 17

> **NIH NIH R01** · BAYLOR COLLEGE OF MEDICINE · 1993 · $206,850

## Abstract

Miller-Dieker syndrome (MDS) is s contiguous gene syndrome
comprised of a severe neuronal migration disorder producing type
I lissencephaly (smooth brain, argyria), characteristic dysmorphic
features, and other congenital abnormalities.  It is caused by a
cytogenetic microdeletion in about half of cases, while the other
half have recently been shown by us to have submicroscopic
deletions detected by anonymous DNA probes.  MDS thus offers a
model system for the reverse genetics cloning of genes involved in
the pathogenesis of a complex disease phenotype, and a more basic
understanding of mechanisms of cytogenetic disorders and normal
corticogenesis.  Specific goals of the project include:  1)
improved diagnostic ability in MDS by identification of new DNA
probes in the critical region, additional RFLPs, and development
of rapid RFLP analysis by the polymerase chain reaction (PCR).  We
will also determine whether patients with isolated lissencephaly
syndrome (ILS), without the dysmorphic features of MDS, also have
deletions or other alterations of a locus on 17p.  2) Study of
mechanisms of chromosome rearrangement by determination of parental
origin of rearrangements, pulsed-field detection of deletion and
translocation breakpoints, followed by strategies to clone and
sequence the breakpoint junctions. 3) Search for candidate genes
by identification of evolutionarily conserved sequences and HTF
islands, followed by search for RNA transcripts and identification
of corresponding cDNA clones.  4) Contribute to human genome
project and comparative mapping in man and mouse.  A high-
resolution regional mapping panel for 17p is being developed by
addition of new patient breakpoints isolated in somatic cell
hybrids, a long-range restriction map is being developed by pulsed-
field gel analysis, and mapping in the mouse is being conducted by
somatic cell hybrid techniques and by analysis of interspecific
backcrosses between mus spretus and mus domesticus.  We will
determine whether MDS probes map close to known mouse neurological
mutations, which may provide an animal model for MDS.

## Key facts

- **NIH application ID:** 2198055
- **Project number:** 5R01HD020619-08
- **Recipient organization:** BAYLOR COLLEGE OF MEDICINE
- **SAM.gov UEI:** FXKMA43NTV21
- **Principal Investigator:** LISA SHAFFER
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 1993
- **Award amount:** $206,850
- **Award type:** 5
- **Project period:** 1986-07-01 → 1995-03-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/2198055

## Citation

> US National Institutes of Health, RePORTER application 2198055, MOLECULAR ANALYSIS OF HUMAN CHROMOSOME 17 (5R01HD020619-08). Retrieved via MORVS 2026-10-25 from https://api.morvs.ai/grant/nih/2198055. Licensed CC0.

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