Critical Reviews in Oral Biology & Medicine, Vol 11, 26-56, Copyright © 2000 by International & American Associations for Dental Research
The impact of molecular genetics on oral health paradigms
T. C. Hart, M. L. Marazita and J. T. Wright
Wake Forest University School of Medicine, Department of Pediatrics, Winston-Salem, North Carolina 27157, USA.
As a result of our increased understanding of the human genome, and the
functional interrelationships of gene products with each other and with the
environment, it is becoming increasingly evident that many human diseases
are influenced by heritable alterations in the structure or function of
genes. Significant advances in research methods and newly emerging
partnerships between private and public sector interests are creating new
possibilities for utilization of genetic information for the diagnosis and
treatment of human diseases. The availability and application of genetic
information to the understanding of normal and abnormal human growth and
development are fundamentally changing the way we approach the study of
human diseases. As a result, the issues and principles of medical genetics
are coming to bear across all disciplines of health care. In this review,
we discuss some of the potential applications of human molecular genetics
for the diagnosis and treatment of oral diseases. This discussion is
presented in the context of the ongoing technological advances and
conceptual changes that are occurring in the field of medical genetics. To
realize the promise of this new molecular genetics, we must be prepared to
foresee the possibilities and to incorporate these newly emergent
technologies into the evolving discipline of dentistry. By using examples
of human conditions, we illustrate the broad application of this emerging
technology to the study of simple as well as complex genetic diseases.
Throughout this paper, we will use the following terminology:
Penetrance--In a population, defined as the proportion of individuals
possessing a disease-causing genotype who express the disease phenotype.
When this proportion is less than 100%, the disease is said to have reduced
or incomplete penetrance. Polymerase chain reaction (PCR)--A technique for
amplifying a large number of copies of a specific DNA sequence flanked by
two oligonucleotide primers. The DNA is alternately heated and cooled in
the presence of DNA polymerase and free nucleotides, so that the specified
DNA segment is denatured, hybridized with primers, and extended by DNA
polymerase. MIM--Mendelian Inheritance in Man catalogue number from V.
McKusick's Mendelian Inheritance in man (OMIM, 1998).
