• Moore, Charleen M (PI)

Project: Research project

Project Details


Dentinogenesis imperfecta is a dominantly transmitted disease affecting
between 1 in 6000 to 1 in 8000 children. It results from an unknown error
in the mesodermal development and affects only the formation of dentin in
teeth. Its phenotype includes opalescent teeth having a blue-gray or amber
brown color. Crowns, roots, pulp chambers, and root canals can also
demonstrate characteristic abnormalities. The gene controlling the
expression of this disease has been mapped to a chromosomal locus
approximately 5 to 9 centiMorgans (about 5 to 9 million nucleotide bases)
from the chromosomal locus of the Group-Specific Component (Gc). The Gc
plasma protein transports vitamin D and its metabolites. Although this
protein exists as three genetic types in all populations studied, little is
known about its function or conformation. The recent cloning of the cDNA
encoding Gc will provide the deduced amino sequence of this molecule and
its leader sequence. The proposal described here is to utilize the cDNA probe encoding Gc to map
Gc to a more precise location on the long arm of chromosome 4, to detect
DNA polymorphisms (RFLPs) that occur in this chromosomal region, and to use
the RFLPs detected by the Gc probe to map the gene that expresses
dentinogenesis imperfecta to a precise subregion on human chromosome 4.
This will be carried out by multipoint linkage analysis. Radiolabeled
probes detecting polymorphisms occurring on chromosome 4 will be used for
Southern hybridization analysis on filters containing endonuclease digests
of genomic DNA obtained from lymphocytes of members of families in which
dentinogenesis imperfecta is segregating. The long term goal of this work will be to clone and characterize the
defective gene leading to dentinogenesis imperfecta. Exploitation of
recombinant DNA techniques offers a promising means of detecting a genetic
marker that will be available for tracking the dentinogenesis imperfecta
gene in affected families.
Effective start/end date8/1/857/31/86


  • National Institutes of Health


  • Medicine(all)
  • Dentistry(all)


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