Human molecular genetics

oaks on molecular genetics progress in molecul&~geneticsis so rapidthatthe onlywaytokeepupistoreadthejoumals.Buthow do you develop the knowl8dg8 base in the first ptace?lhereareakeadyquiteafewt8xtsattemptklgtofulfitthismt8andthree~~books ittustrat8diirent approachesto the problem. w In #o#Wf~ is the result of a collaboratjon between a Hungarian geneticist and a Britiahxodogi~t:estoryofhowtheygottogether to write this book is doubtlessan interestingone. After14QagesofbackgroundinfomMkin,thecore of the book (another250 pages or so) adoptsthe interestingapproachof explainingthe principles of medicalgeneticsusinggenes as a stating point. Each sectionis illustratedwith a diagramshowing the chromosomallocation of the gene, its size, intron-exon structure and, where appropriate, hmctionaalmotifs.Thisisusedasabasisfromwhich to illustratethe complexity of molecularpathology, an approachthat works reasonably well. In fact, this book’s greatest asset is that the authors clearly relish their subjectso much that it makes enjoyable reading.They point out that the ‘palindromic’sequencesof restrictionenzymes are not the same as literarypalindromes(example: ‘sex at noontaxes’). To visualize the relative &es of the human haploldgenome versus a plasmid,the authors suggest that you compare the distance betweenBoston(MA, USA) and Denver(CO, USA) with that between Boston(Lincolnshlre,UK) and Denver (Notilk, UK) (admlttedly,thlsmlghtleave some readers none the wiser), And they helpfully point out that the word ‘mast’In mast cells has ~~lngtodowlthshlps,butIsckrlvedfrwn~nnan, meaning we&fed, Such titbltswill help to sustain ~~~dudng~mon~s~r,tnfact, this book has a delightfullytlterary,ol&fashloned feel to it. Tb me, this Is refreshingin the modem era of soundMe InformatIon,but some prospec= tlve purchasers might feet differently.The illustrationsare all In monochromeand includeonly a ~~Intheentirebook.Ther8maindsr are painstaking line drawings, seemingly done with stencils rather than computer technology. They are crammedwith detail and factuallyaccurate, but regrettablyare notveryinterestingto look at. This book would be suitable in an advanced undstgraduate or junior graduate course and deserva~to do well, but it mightdo better if more money were investedin the artwork. tcblly+m @I -llkclYclnstakes a very differentapptoach: belongingto the very suC#ssfut ieclwe lrlwesseries, it ts the ultimate blicatlon’-snappy and brimmingwith fromthe desktoppublisher’stdentikit, these books are desperalely borspeaking, they provide a useful 452

last-minuteresortfor the studentwho finds a particularsubjectespeciallyunwholesomeand wants to cram in informationb8fore an exam - and then forget it again just as rapidly.Such books do have their role to play in life- I found Lecture Notes on General Surgery provided some useful lists to lighten th8 burden of a painful learning process some years ago - but they hardly make appetisingsubjectsfor book reviews,This particulartitle isn’t bad and containsthe usual list of facts that mightcrop up in (bad) exam questionsand would

something for everyone: even experienced human geneticists are likely to learn a good deal about subjects outside their immediate field. I haven’t ye? read the whole book (although I look forward to doing so), but areas of my own ignorance for which I have already found clear explanations include: methods used in the genetic analysis of

common diseases (includingthe difference between identityby state and identityby descent, the use of haplotype relative risk and transmission disequilibriumtests): the evolutionof human Alu and mouse 81 repeats from ancestral 7SL RNA;

the lariat consensus sequence; and the classification of introns according to phase and type. There are clear explanations of why a LOD score of 3 is conventionally required for evidence of genetic linkage, why germinal mosaicism can complicate the estimation of recurrence risks, and of why some diseases show dominant inheritance and others recessive:these are confusingtopics,

fundamentalto an appreciationof modem human genetics,and are barelymentionedinthe othertwo books. There is a useful section on informatics with an introduction to many of the major databases and how to access them. The text is admirably up to date with many 1995 references (a minorgripe is that itwouldhelpto providethe titles have to bo looked up by most examiners as well of the papers relerenced). How did these authors as their students:it willdoubtlessbe purchasedin manage to write this at the same time as running quantity by those lost souls who can’t bear molw busy universitydepartments?I can only look on ecular biology, and will probably reinforce them their achievement with awe and admiration. In that prejudice. For e relativelyshort book (142 pages of text), I note that it cui\talns its fair sham of errors: Klenow tragment is described as con* talnlngS-3’ exonucleaseactivlty;the diagram of PCR sltsdlrected mutagenesisis misleading;and leuclne zippers do not themselvesbind to DNA, Which brings me to the final offering, Humor, klokcukrrlkrntica The publicationof thisbcok has attracted a fair amountof publicityand it was the prospect of receiving a free copy (I have to admit)that persuadedme to agree to review these books. t have not been disappointed.This is truly a Rolls Royce among textbooks(the authors 818 British, so I believe that I should be allowad the analogy),and itwouti be dMicuitto praise it highly enough. This is a big book compared with the other two (over 600 pages), and its first positive BMcwcu sctaau$199% f 129s point is that it combines the virtues of both: it is (viti4151pagcs)rSBN0632038519 extremely welt illustratedwith clear, t~wolo~r drawings, and it is also extremely well written. ComparedwithGenesinMedicineittakesamore conventional, didacticapproach to the subject byT.sbrtr;atraaadA.RRaa&Bios!$cicn& matter. which makes it easier to dip into. The IWliWm, t!M. f29.% (xiv + 610 ps%es) bteadth and depth of coverage is tremendous, lSBNl3727&694 and certainly too detailed to serve as a primary undergraduatetext, but above this level therr is CopjtiphtQI996 Elswier Scienrv Lrd. All rightsnxrv:d.

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