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14 April 2015

978 0 81534 509 1
Garland Science
GBP 22.95

Introducing Genetics: From Mendel to Molecule Paperback (2nd edition)

Alison Thomas

How do you store, express and regulate approximately 21,000 genes in 1014 human cells? How do you use genetic information to reproduce and maintain hereditary principles that are literally passed down through our genes? Most of us would have a pretty good idea at answering such questions but for those embarking on exciting disciplines such as genetics, the second edition of Introducing Genetics by Alison Thomas is essential reading. On a conceptual and a slightly metaphysical level, the bulk of the book confines its scope to inside the cell. The range of information presented merely scratches the surface yet it serves to remind the reader and the seasoned scientist that it is not only the heavens that contain complex and uncharted universes, but so too the cell.

As to be expected Gregor Mendel gets pride of place for his formative and ground-breaking laws of genetics which he formulated by crossing different garden pea varieties in the monastery garden at Brno. Generating the three laws of segregation, independent assortment and dominance, Mendel derived the basic tenets of modern day genetics. Initially, the mathematics and statistics associated with these experiments can be confusing and indeed the complicated nature of genotype derivation from various crosses can be perplexing. However, the author strives purposefully to deconstruct these genetic myths and provides well worked examples of some complicated crosses. Human crosses via family pedigrees depict the segregation of traits through the generations and by the application of structured and well-conceived hypotheses, allele frequencies can be calculated using the Hardy-Weinberg equation, a fundamental law in population genetics.

The genetic components of some syndromes are also dissected. In the male population, the occurrence of the XXY genotype leads to a diagnosis of Klinefelter syndrome; the phenotype manifesting as predominantly male but with some female features such as slightly enlarged breasts. The inheritance of an extra chromosomal copy (trisomy) is nearly always fatal to the foetus, resulting in spontaneous abortion or miscarriage. Inheritance of trisomy 1 is so fatal that embryos fail almost immediately and are barely detected. However, trisomic states do exist and can lead to live births but early death; trisomy 13 (Patau syndrome) and trisomy 18 (Edwards syndrome). The most frequent trisomy (1 in 700 births) is Down syndrome which occurs predominantly in older woman where eggs, formed at birth, undergo non-disjunction (failure in chromosomal segregation) and other abnormalities. Pregnant women of a certain age now undergo invasive amniocentesis and chromosomal karyotyping however these techniques are not without their associated risks to the foetus.

One minor aspect of the book which resonates with recent ethical developments in the UK is the section on diseases caused when the mitochondria malfunctions. Cited as non-Mendelian inheritance through the female line, dysfunctional mitochondria cause a wide variety of debilitating diseases. While understandably not delving into ethical issues (the author is uncontroversial when dealing with GM crops, and avoids gene therapy), it is certain that in the future, UK individuals with mitochondrial disease could comprise of mitochondrial DNA from three donors, the third coming from a healthy female. Whether or not this female mitochondrial DNA contributes to a fitter genotype/phenotype remains to be seen.

Other sections include principles of biochemistry (translation and transcription), cell biology and DNA manipulation using recombinant techniques. These sections are written and assembled to appeal to the undergraduate as introductory modules. Images and figures abound and are well annotated and conveniently there is an excellent glossary abutted by an exhaustive index. Overall the impression of the book is good; making genetics fun is not an easy task however the author has succeeded here. Primarily appealing to undergraduates/postgraduates and retailing at £22.95, Introducing Genetics is great value for money and should be stocked in all academic libraries. And finally how do you store, express and regulate 21,000 genes in 1014 human cells; folding and packaging is the fiendishly clever answer!

John P. Phelan (Waterford Institute of Technology, Ireland)

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