B O O K S : : :

Cotton on to modem mutation detection

Mutation Detection by Richard G.H. Cotton Oxford University Press, 1997. £22.50 pbk (xvii and 198 pages) ISEN 0 19 854889 3

Man], investigators will encounter the problems of mutation detection at a time when their research enters a very exciting period and they are particularly keen to make rapid progress. For example, a candidate disease-causative gene has been identified and rapid conf'trmation of the presence of mutations in that gene in patients suffering from the particular genetic condition is required. Since the development of the first mutation detection procedure using S1 nudease in 1975, numerous and varied techniques have been described for the detection of deviatiorts from the normal sequence. Which procedure will be the most appropmte in terms of.scanning efficiency. detection rate, expense and time can be a difficult choice. Other workers in this field will be concerned with the detection of mutations for the purpose of diagnosis of genetic disease, including several cancer syndromes, in the clinical setting. Here, the molecular nature of the disease- cau~tive mutation might have been characterized previously, but the important [,,.sue is selecting the most appropriate method for determining its presence or absence in 'at risk" family members.

The author of this very comprehensive book, Richard G.H. Cotton, is renowned in the field of m~da|ion detection for his work on mismatch cleavage using chemical and enzymatic means. Here he has reviewed the many current mutation detection method.,; and provided a cdtical ewduation of each one without any particular bias towards his own special interest. The text is well referenced and includes useful examples in which the techniques have been employed successfully. The guidance given on the choice of technique and strategies to be adopted is very helpful. The case for direct sequencing without applying any prior screening methods is considered. Then. in b, vo separate chapters, the author gives an overview of .scanning methods useful in the detection of unknown mutatkms and diagnostic methods for the detection of previously characterized mutations. The discussions are wide ranging and indude the relatively simple-to-perform heteroduplex analysis and allele-specific oligonucleotide hybridization, through to restriction-enzyme finger printing, several variations of mismatch cleavage, and oligonucleotide libation to protein and

functional analyses. However, it should be noted that this is not a book of specific protocols. These are provided in abbreviated form only, with lyarticular reference to publications by the experLs in each specific technique. Key information is gi~'en, however, such as the principals behind file techniques, detectkm rates, the required apparatus and approximate times required to perform each vart of a protocol. The only omission. acknowledged by the author in the preface, ks a detailed discussion of those techniques used to identify triplet-repeat expansion mutatkms and sizeable genomic deletions.

The layout of the book makes it a very clear and user friendly reference te~. It Ls up to date, with brief descriptions of emerging techniques, such as oligortucleotide-away hybridization and capillary electrophoresLs. A.s well as providing a compari~n of many diverse mutation detection methods, Dr Cotton has addressed topics such ms patents, ethical problems and cost--benefit analyses of greening for mutatious - issues that will increasingly impede on the work of clinical and basic research mientists as we enter the next millennium.

Ann Curtis ann.curtis@tad.ac.uk

Human Molecular Genetics Unit, Univers O' of Newcastle upon Tyne. Ridlel' Building, Claremont Place,

Newcastle upon Tyne. UK NEI 7RU.

10 years of sequence analysis

DNA and Protein Sequence Analysis - A Practical Approach edited by M.J. Bishop and C.J. P, awlings Oxford University Press. 1997. £29.95 ~bk (xx

It is 10 years since Nucleic Acid and Protein Sequence A nal)~is- A Practical Approach (edited by Martin Bishop and Chris Rawlings) was published. At that time, it was a revelation to me to .see that the algorithms for producing, say, art RNA folding prediction, were very understandable and fascinating. In fact, after having read many of the chapters, I felt sufficiently educated to enter the field of biocomputing myself.

Ten years later, a book with almost the same title by the same editors appeared- would it be as enlightening? The field has very much changed and grown: there are now so many different approaches and products that making a choice is difficult. To reflect this, the book "has been completely rewritten. If the theme of the forerunner was 'how does biocomputing work?" it is now 'how to choose the right

and 352 pages) ISI~N 0 19 963463 7

program or database to solve your problem'. Such an endeavor is, however, very difficult if not impossible because it must keep up with the enormous speed with which programs and databases currently appear and change. This difficulty is visible throughout the book but should have been met with much more rigor. A sentence such as 'Recently the Gopher network information retrieval software has gained popularity...' should not appear in a practical guide of 1 9 9 7 .

The fidd of sequence analysis ts almo~ completely covered in 17 chapters from 25 contributors. Diverse approaches have been chosen by the different authors. Most do not describe the methods and algorithms in detail, but list briefly all available resources to solve a particular problem and compare them against ear l other. Examples are the excellent chapters on sequence compari,mn

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O~p~,~il~lnt ~ 1997 Et'~-,'it'r m'icn~e Ltd. All rtghv, R'~'~M- O | f ~ ' ~ ~5."~/S I 7 - ~ 462

by Stephen Ak~chul. on identifying genes in genomic DNA ,sequences by Eric Snyder and Gary Stormo, and on phylogenetic emimation by Nick Goldman. A few chapters give an overview over public domain, and commercially available programs and program packages, but unfortunately these tend to be overburdened with detail, and not enough guidance is provided for choosing a particular product. 'i'he fact that sequence analysis lives in a huge body of data compiled in uncounted molecular biology databases is not given enough ,,,,'eight. A few chapters to this extent exist but they are diffuse and particuhrly out of date.

Most chapters should be amenable to novices who will much appreciate the chapters focusing on the biological problems, such as the chapter on evolution of protein families by William Taylor. On the whole, the book gives a good overview of the field, but, depending on the interest, one might wish to move immediately on to more specialized reviews or program manuals.

Thure Etzold etzold@ebi.ac.uk

£11BL-EBL Hin.xtou Hall, Cambffdge, L~" CBIO ISD.