Human genetics and genomics / Bruce R. Korf and Mira B. Irons.

Includes bibliographical references and index.

DNA structure and function Genetic variation Patterns of inheritance The human genome Multifactorial inheritance Cell division and chromosomes Population genetics Cancer genetics Chromosome translocation Molecular diagnosis Newborn screening Developmental genetics Carrier screening Genetic risk assessment Genetic testing for risk of cancer Pharmacogenetics Treatment of genetic disorders

This text clearly explains the key principles needed by medical and health sciences students, from the basis of molecular genetics, to clinical applications used in the treatment of both rare and common conditions. A newly expanded Part 1, Basic Principles of Human Genetics, focuses on introducing the reader to key concepts such as Mendelian principles, DNA replication and gene expression. Part 2, Genetics and Genomics in Medical Practice, uses case scenarios to help you engage with current genetic practice. Now featuring full-color diagrams, Human Genetics and Genomics has been rigorously updated to reflect today's genetics teaching, and includes updated discussion of genetic risk assessment, single gene disorders and therapeutics. Key learning features include: Clinical snapshots to help relate science to practice 'Hot topics' boxes that focus on the latest developments in testing, assessment and treatment 'Ethical issues' boxes to prompt further thought and discussion on the implications of genetic developments 'Sources of information' boxes to assist with the practicalities of clinical research and information provision.