Medicine And Books

Human Molecular Genetics

BMJ 1996; 312 doi: (Published 22 June 1996) Cite this as: BMJ 1996;312:1619
  1. Grant R Sutherland

    Tom Strachan, Andrew P Read Bios, £29.95, pp 597 ISBN 1 872748 69 4

    Its back cover says that Human Molecular Genetics is essential for students taking courses in genetics, biochemistry, molecular biology, or medical genetics, and for geneticists and molecular geneticists unfamiliar with human molecular genetics. The text covers both general principles and technology, and has comments on the ethics of some applications of genetics.

    In an age of specialisation it is unusual to find a book with such a broad range of subjects that is not a multiauthor compendium. Having only two authors gives Human Molecular Genetics a unity of style and expression that such compendia often lack. It is also very up to date and has not suffered noticeable delays in production.

    Beginning with basic science chapters on DNA, chromosomes, inheritance patterns, and gene cloning methods, the book continues with chapters on methods of DNA analysis. The next few chapters cover the organisation of the human genome. It is compared with the genomes of other organisms, and I found the chapter “Footprints of evolution” particularly enjoyable. This section also covers the issue of multigene families and types and mechanisms of mutation, and ends with physical and genetic mapping of chromosomes and the Human Genome Project. I found the ethical sections to be much less dispassionate than the science. The authors' obvious distaste for commercial applications of genome technology, with reference to “commercial concerns” as an all pervading “they,” is out of keeping with the rest of the book.

    The remaining text is concerned more with the molecular genetics of human disease, featuring chapters on both inherited diseases and the somatic genetic changes—mostly not inherited—that are involved in transforming cells from normal to malignant and giving rise to cancer. The discussion of diseases with a complex genetic basis, common disorders such as schizophrenia and diabetes, is comprehensive.

    With the cloning of disease genes whose exact function is often obscure and the identification of many novel genes from large-scale DNA sequencing projects, determining gene function is a major challenge that is awaiting some technological paradigm shift. The current approaches are tedious, time consuming, and uncertain in outcome but are well summarised in the book, with considerable technological detail for methods such as the generation of transgenic mice.

    Finally the various aspects of gene therapy are outlined, again with a lot of attention given to the technology. Gene therapy not only holds promise for the treatment of monogenic disorders such as cystic fibrosis but has many facets. These include the use of genetic engineering techniques to produce gene products for therapeutic use, such as insulin for diabetes, and the potential to genetically engineer antibodies and vaccines. Gene therapy also has potential application in infectious disease and cancer.

    The book is well produced, with a good glossary and index, and I found very few errors, although the cytogenetic nomenclature needs some attention. It covers well the subject encapsulated in the title, and I would be pleased to recommend it to its target readership.—GRANT R SUTHERLAND, director, centre for medical genetics, Women's and Children's Hospital, Adelaide, Australia

    View Abstract

    Sign in

    Log in through your institution

    Free trial

    Register for a free trial to to receive unlimited access to all content on for 14 days.
    Sign up for a free trial