Structure and Organisation of the Human Genome View Full Text


Ontology type: schema:Chapter     


Chapter Info

DATE

1984

AUTHORS

H. J. Evans

ABSTRACT

It is estimated that at least 10% of ill health in man is a direct consequence of the inheritance of defective or disease predisposing genes (UNSCEAR 1977), and this estimate does not include diseases, such as certain forms of cancer, which may be associated with acquired somatic genetic changes as opposed to inherited defects. Approximately l% of the live newborn inherit major single gene defects and a proportion of these are a consequence of new mutations. The mutation rate for these changes differs enormously for different genes with at one extreme a gene responsible for a form of X-linked non-specific mental retardation having a mutation rate of around 1 per 104 gametes per generation, whereas other genes may undergo mutation at rates which are at least a thousand fold lower. In addition to the inherited major single gene defects, around 1 in every 150 live newborn babies inherit a chromosomal abnormality which may take the form of an alteration in chromosome number or in chromosome structure, and the majority of these abnormalities are new mutations arising in parental germ lines (Evans 1977a). The incidence of chromosomal mutations in still births and in spontaneous abortuses is very much higher and indeed more than 50% of early abortions are associated with a chromosomal mutation (Boue et al. 1975) and the overall numbers would imply that almost 1 in 10 human gametes carries a chromosomal mutation. Chromosomal and, in some cases, gene mutations can also be readily demonstrated in human somatic cells and chromosomal abnormalities in blood lymphocytes from healthy individuals occur with a frequency of between 1 in 102 to 103 cells. Mutation therefore is by no means a rare event in human somatic and germ cells and the human genome may be a rather less stable entity than is sometimes assumed. More... »

PAGES

58-100

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  • Book

    TITLE

    Mutations in Man

    ISBN

    978-3-642-69532-2
    978-3-642-69530-8

    Author Affiliations

    Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/978-3-642-69530-8_4

    DOI

    http://dx.doi.org/10.1007/978-3-642-69530-8_4

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1019451206


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