Human Genetics

Human Genetics2e begins by describing basic human genetics, introduces the variety of techniques available for disease diagnosis and details how these are used in the lab, before concluding with information on prenatal diagnosis, genetic counselling and ethical considerations. As such, the book is the ideal handbook for biomedical science students and for anyone working in a diagnostic genetics lab.This new edition has been comprehensively rewritten to take into account the major changes in recent years, particularly with regard to human molecular genetics:* greater coverage of recently identified genes and their role in disease * updated to include an expanded section on breast cancer * expanded description of epigenetics including methylation and acetylation * updated to include all the latest diagnostic tools: QF-PCR, MLPA, RT-PCR, microarrays, etc. * more on the impact of genetics on society; ethics and dilemmas * full colour photographs have been included to allow readers to see real laboratory resultsIf you need to know the difference between SNPs and CNVs, when to use QF PCR or microarrays, or wondered which screening method to use for mutation detection, then you need to read this book.