Human Mitochondrial Genetics

Abstract

The field of human mitochondrial genetics has advanced way beyond where the Hunlan Genome Project hopes to be by the year 2003, the projected year for completing the sequence of the entire human nuclear DNA genome. Not only has the mitochondrial DNA (JntDNA) been completely sequenced, the regions that code for genes and those that are noncoding have been distinguished, the function of all the genes have been determined, the nltDNA genetic code has been shown to differ in some ways from the Universal Genetic Code of nuclear DNA, and a Ilutnber of diseases have been correlated with specific mitochondrial DNA mutations (http:// infinity.gen.emory.edu/mitomap.htmI). Some of the current areas of research interest with regard to mitochondrial genetics are: examining the variability among individuals or within a single individual (heteroplasmy); distinguishing between polymorphisms and disease-producing mutations; detecting mutations present in low concentrations in an individual; analysing the effects of chemical or physical agents and the mechanisms which lead