BMJ  2004;328:172 (17 January), doi:10.1136/bmj.328.7432.172

reviews

Book

Nature Encyclopaedia of the Human Genome

Five volumes, 5000 pages, three million words, 15.2 kg, £675—if it's nothing else, the Nature Encyclopaedia of the Human Genome is a heavyweight publishing phenomenon. How is it possible to write a sensible review of an encyclopaedia? According to at least one dictionary definition an encyclopaedia "provides a general overview on a topic... a good place to start research." To test the encyclopaedia against this definition the three of us each chose a single topic to look up in the encyclopaedia. Here is what we found.

Nature Publishing Group, £675/$950 (prepublication price), pp 5000 ISBN 0 333 80386 8 www.ehgonline.net Rating:

Steve Abbs, a clinical molecular geneticist, chose "DNA mutation nomenclature," a subject that is dear to his heart

Clinical molecular geneticists spend their working lives finding, naming, and investigating genetic mutations. When I looked up "mutation" in the contents I was reassured to discover that most of the topics I was interested in (and more) were covered by individual chapters, all written by international experts in their field. I looked in detail at the article "Mutation nomenclature," because this topic can be confusing for some mutations, and it is the sort of thing a molecular geneticist might want to look up in an authoritative reference work such as this. The chapter, written by Johan den Dunnen, an international authority on mutation nomenclature, gives a succinct account of current recommendations, including relevant examples. Readers are referred to several sources for further information, including the Human Genome Variation Society's website, which gives more examples—particularly of the more complex types of mutation that are not covered in depth in this chapter. The chapter is a useful introduction and reference source on current recommendations and is sufficient for putting a name to most mutations.

Unfortunately a recurring typesetting error causes confusion throughout this chapter. When I read the sentence "The terms Amutation and Apolymorphism are avoided" I began to wonder whether these were new terms that I hadn't come across before. I then realised that the letter A at the beginning of a word signifies that the word should have been printed in bold or italic. This needs correcting.

Tracy Bussoli, a genetic counsellor, looked up Duchenne's muscular dystrophy

I often see the young sisters of boys affected with Duchenne's muscular dystrophy, whose parents want to know whether the girls are carriers of this X linked recessive disorder. To prepare for such meetings I would want to remind myself about the disorder as well as to go over some of the ethical issues to do with testing children for being carriers of such genes. Kay Davies's chapter on the gene for Duchenne's muscular dystrophy and its mutations was easy to understand, but I could not find much information on the clinical details of the disease. It was also refreshing to see a chapter dedicated to genetic testing in children. This chapter's section on carrier testing raised many of the issues that would be pertinent if I were asked to do a Duchenne's muscular dystrophy carrier test on a girl of 13. In passing I noticed that the encyclopaedia had several excellent chapters dedicated to the subject of genetic counselling, including sections on consanguinity, the concept of non-directiveness, and the genetic counselling profession in Europe. These are all extremely useful topics for anyone working in my field.

Fred Kavalier, a primary care geneticist, tried to find out the answer to a question asked by a patient who carried a fragile X pre-mutation: "Will the fragile X gene have any effect on my health in later life?"

Fragile X syndrome, a relatively common genetic condition, gets no separate entry Credit: KAIROS/LATIN STOCK/SPL

No article in the encyclopaedia is specifically devoted to the fragile X syndrome, although it is dealt with briefly in the articles "Fragile sites" and "Chromosome X." This seems odd for a relatively common genetic condition. The encyclopaedia's index contains references to 38 articles under the heading "Fragile X syndrome." None of these articles mentions the recent research that suggests that men who carry expansions in the fragile X gene may develop neurological symptoms later in life. Along the way I discovered a little discrepancy regarding the definition of a full mutation. On page 231 of volume 4 a full mutation is described as "more than 200 triplets." The table on the next page says a full mutation is "230-1000" repeats.

Searching through 38 articles in five volumes is heavy physical work. It is time consuming and requires a big desk. Online search facilities in the forthcoming electronic version of the encyclopaedia will be a big step forward.

Next door to the article on fragile sites I couldn't help noticing one on Rosalind Franklin. I was disappointed that the article's list of references did not include Brenda Maddox's Rosalind Franklin: The Dark Lady of DNA, which was published in 2002.

Summary

We were all pleasantly surprised by what we found lurking in the pages of this encyclopaedia. Like the human genome itself it provides an excellent starting point for anyone who is trying to find out about genetics. Like a good teacher it raises at least as many questions as it answers. Unlike the genome it is readable and full of reliable references and signposts. To save trees and remain up to date it needs to be published electronically.

DNA laboratory Stephen.abbs{at}gstt.sthames.nhs.uk, Department of clinical genetics, Guy's Hospital, London

Tracy.Bussoli{at}gstt.sthames.nhs.uk, Department of clinical genetics, Guy's Hospital, London

Fred.Kavalier{at}gstt.sthames.nhs.uk, Department of clinical genetics, Guy's Hospital, London

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A response from the publisher

Michael Calais
bmj.com, 19 Jan 2004 [Full text]