Abstract
The haploid (n) human genome contains approx 3 billion nucleotides (or bases) of DNA strung amongst 23 chromosomes (see Fig. 1). The diploid (2n) complement, which consists of a haploid genome inherited from each parent, therefore comprises 46 chromosomes of 6 billion nucleotides of DNA, all contained within the cell nucleus. The same complement of DNA is found in every cell (except red blood cells) in the body. Mitochondrial DNA, which is a circular molecule of genetic material, 16,000 nucleotides long, is also part of the human genome. It is located outside the nucleus in the cytoplasm of the cell and encodes a small but important subset of human genes. Mitochondrial DNA is only transmitted from mothers to their offspring. On average, the human genome is 99.9% identical between any two individuals, with nucleotide differences existing only about 1 in every 1000 bases. Less than 5% of the genome contains genes or protein-coding regions. The remaining 95% (noncoding part) contains repetitive elements (see Chapter 8) and other sequences whose functions are not completely understood and is often referred to as junk DNA. These regions may play a role in maintaining the structural integrity of chromosomes. There at least 30,000–40,000 genes in the human genome, ranging in size less than 1 to 200 kilobases (kb), with the average size of a gene being 50 kb. General information on the human genome is provided in Table 1.
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Deb-Rinker, P., Scherer, S.W. (2003). Molecular Genetics of Disease and the Human Genome Project. In: Krawetz, S.A., Womble, D.D. (eds) Introduction to Bioinformatics. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-59259-335-4_9
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DOI: https://doi.org/10.1007/978-1-59259-335-4_9
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