New Clinical Genetics - 2nd Edition

نویسنده

  • Patrick J Morrison
چکیده

New CliNiCal GeNetiCs – 2 Nd editioN. The second edition of this book within four years of the first edition, shows how fast moving the specialty of genetics is – the up to date changes from the recent first edition means that the book justifies its title. The primary readership here is for medical students, but the clinical information would be of interest to all branches of medicine, and those older physicians and surgeons who are a bit nervous of the language of genetics will find lots of very clinical based information in an easily digestible but authoritative format. It follows the UK and American curricula for undergraduate medical students and I would have liked this book as a student myself with the very clinical format had it been available in the 1980's but of course genetics textbooks then were much thinner on detail. The case histories – 26 in total based on different diseases in theoretical families from A-Z, are excellent and easy to follow. New sections of the book include information on single nucleotide polymorphisms and exome sequencing, and the limitations of genome-wide association studies-all easy to understand for the student or aging physician. The only error I could find is in one of the case scenarios. All the fictional case histories appear correct – the irony is that the one real pedigree the authors included based on Queen Victoria and her haemophilia A is actually now incorrect in that in 2010 a mutation in factor IX was found to be the cause of haemophilia in Queen Victoria's descendants. I expect the next edition to be updated to haemophilia B and the authors could well extend the story into mentioning some of the recent publications on how using mitochondrial DNA from Prince Philip (a 3 rd cousin of Queen Elizabeth – as well as her consort, just to give more genetics trivia) helped fit pieces of historical genetic jigsaw together into the Russian royal family DNA investigations, following exhumation of some of the Tsar's family – all fascinating reading and gripping stories that would interest all students. For the next edition, the authors might consider a digital edition for the iPad, given that CD and DVDs are now passé and the digital download is the current vogue. This should be cheaper and a way to boost sales to students in the current recession. They might also include some …

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عنوان ژورنال:

دوره 81  شماره 

صفحات  -

تاریخ انتشار 2012