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Mapping the Human Genome, Cloned Genes, DNA Polymorphisms, and Inherited Disease

  • Thomas B. Shows
  • Alan Y. Sakaguchi
  • Susan L. Naylor
Chapter

Abstract

It is estimated that the human haploid genome is composed of 3 × 109 nucleotides and that only 10% of it consists of coding and regulatory sequences.14 If a gene is approximately 104 nucleotides in length, which includes the coding region and the intervening and flanking sequences, this estimate would predict that there are about 3–10 × 104 human genes coding for different protein products. Since gene clustering in humans has become evident (for example, the hemoglobin, immunoglobin, and HLA clusters), these estimated gene products may be grouped in from 3000 to 15,000 clusters.15 Further, based upon genetic and molecular studies of microorganisms, Drosophila, and the mouse, there are perhaps 5 × 104 structural genes estimated in humans,14,106,183 which is in agreement with the number of estimated protein products in the human genome. Mapping the human genome involves partitioning the total number of genes into individual maps representing the 24 different human nuclear chromosomes and linearly ordering them on each chromosome. A similar exercise has mapped the 37 genes encoded in the DNA of the mitochondrial genome.2

Keywords

Human Chromosome Cell Hybrid Congenital Adrenal Hyperplasia Adenosine Deaminase Globin Gene 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Plenum Press, New York 1982

Authors and Affiliations

  • Thomas B. Shows
    • 1
  • Alan Y. Sakaguchi
    • 1
  • Susan L. Naylor
    • 1
  1. 1.Department of Human Genetics, New York State Department of HealthRoswell Park Memorial InstituteBuffaloUSA

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