An Introduction to Human Molecular Genetics (PDF)

An Introduction to Human Molecular Genetics

Second Edition

Jack J. Pasternak

The Second Edition of this internationally acclaimed text expands
its coverage of the molecular genetics of inherited human diseases
with the latest research findings and discoveries. Using a unique,
systems-based approach, the text offers readers a thorough
explanation of the gene discovery process and how defective genes
are linked to inherited disease states in major organ and tissue
systems. All the latest developments in functional genomics,
proteomics, and microarray technology have been thoroughly
incorporated into the text.

The first part of the text introduces readers to the fundamentals
of cytogenetics and Mendelian genetics. Next, techniques and
strategies for gene manipulation, mapping, and isolation are
examined. Readers will particularly appreciate the text's
exceptionally thorough and clear explanation of genetic mapping.
The final part features unique coverage of the molecular genetics
of distinct biological systems, covering muscle, neurological, eye,
cancer, and mitochondrial disorders. Throughout the text, helpful
figures and diagrams illustrate and clarify complex material.

Readers familiar with the first edition will recognize the text's
same lucid and engaging style, and will find a wealth of new and
expanded material that brings them fully up to date with a current
understanding of the field, including:

* New chapters on complex genetic disorders, genomic imprinting,
and human population genetics

* Expanded and fully revised section on clinical genetics, covering
diagnostic testing, molecular screening, and various
treatments

This text is targeted at upper-level undergraduate students,
graduate students, and medical students. It is also an excellent
reference for researchers and physicians who need a clinically
relevant reference for the molecular genetics of inherited human
diseases.