Medical Genomics Primer on Medical Genomics Part II: Background Principles and Methods in Molecular Genetics

A glossary of terms frequently used in medical genomics appears on pages 805 through 808. Individual reprints of this article are not available. The entire Primer on Medical Genomics will be available for purchase from the Pro-ceedings Editorial Office at a later date. The nucleus of every human cell contains the full comple-ment of the human genome, which consists of approxi-mately 30,000 to 70,000 named and unnamed genes and many intergenic DNA sequences. The double-helical DNA molecule in a human cell, associated with special proteins, is highly compacted into 22 pairs of autosomal chromo-somes and an additional pair of sex chromosomes. The entire cellular DNA consists of approximately 3 billion base pairs, of which only 1 % is thought to encode a func-tional protein or a polypeptide. Genetic information i