The human genome project and its impact in medicine

Stylianos E. Antonarakis and Hamish S. Scott

European Review, 1996, vol. 4, issue 4, 415-426

Abstract: The Human Genome Project (HGP) is an international project to map, clone and determine the nucleotide sequence of the entire human genome. The estimated length of our genome is 3 × 109 nucleotide pairs and contains approximately 70000 to 100000 genes and a large amount of extragenic DNA. A dense linkage map produced with highly polymorphic markers has already been constructed and a physical map of overlapping cloned DNA fragments has been achieved for nearly 90% of the human genome. A partial nucleotide sequence for about half the human genes is in public databases (with full-length sequences for over 4200 genes) but only approximately 0.4% of the entire human genome has been sequenced. It is the goal of the HGP to determine the full human nucleotide sequence by the year 2005. The HGP has already made, and will continue to make, important contributions to medicine in the understanding of the pathogenesis of disorders, accurate diagnosis and realization of effective, logical treatment. The ethical, legal and social aspects of the HGP are numerous and complex; funding for the consideration, debate and resolution, and thus the ability to use the information from the HGP for the benefit of medicine and all society is included in the HGP.

Date: 1996
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