The Impact of Molecular Genetics on Oral Health Paradigms

Abstract

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 posessing 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).

The nasopharynx in infants with cleft lip and palate

“…The other aims were to compare the ICP group with the other affected groups, as previous embryological studies have indicated that CLP infants are etiologically and developmentally distinct from ICP group [17,18], and to compare males and females. [19,20].…”

Rat enamel contains RP59: a new context for a protein from osteogenic and haematopoietic precursor cells

“…A gradient of protein concentrations across the layer of growing enamel has been observed (Hu et al 1997;Uchida et al 1997;Nanci et al 1998). Clinical and genetic features suggest that many direct and indirect factors contribute to enamel formation (Hart et al 2000;Downey et al 2002). Enamel formation is impaired if the bulk matrix proteins amelogenin, enamelin or ameloblastin or the enzyme enamelysin are absent or misexpressed (Lagerström et al 1991;Gibson et al 2001;Rajpar et al 2001;Mårdh et al 2002;Paine et al 2003).…”

Skin Tissue Surface Morphology and Quality of RNA and Protein Extracted from Fresh and Stabilized Human Cleft Lip and Palate Tissue

“…Cleft lip and palate (CLP) deformity has become a major public health problem affecting one in every 500 -1000 births worldwide [5]. Two most common types of CLP are cleft lip with or without cleft palate and a cleft palate only [1].…”