Genetics and Precision Medicine
Scientific, technological, and medical advances have made it possible to detect, diagnose, and treat most common diseases (e.g., asthma, diabetes, and hypertension) early in their course and more effectively than…
Disease-Gene Identification
The identification of mutations that cause disease is a central focus of medical genetics. With the completion of the Human Genome Project (see Box 8.2 later in this chapter), the…
Autosomal Dominant and Recessive Inheritance
Many important and well-understood genetic diseases are the result of a mutation in a single gene. The online edition of McKusick’s Mendelian Inheritance in Man ( http://www-ncbi-nlm-nih-gov.easyaccess1.lib.cuhk.edu.hk/Omim/ ) lists nearly…
Answers to Study Questions
Chapter 2 1. The mRNA sequence is 5′-CAG AAG AAA AUU AAC AUG UAA-3′ (remember that transcription moves along the 3′–5′ DNA strand, allowing the mRNA to be synthesized in…
Clinical Cytogenetics: The Chromosomal Basis of Human Disease
The previous two chapters have dealt with single-gene diseases. We turn now to diseases caused by alterations in the number or structure of chromosomes. The study of chromosomes and their…
Biochemical Genetics: Disorders of Metabolism
Each of us is composed of a large number of complex molecules that are hierarchically arranged in space to form cells, tissues, organs, and ultimately a complete human being. These…
Basic Cell Biology: Structure and Function of Genes and Chromosomes
All genetic diseases involve defects at the level of the cell. For this reason, one must understand basic cell biology to understand genetic disease. Errors can occur in the replication…
Background and History
Genetics is playing an increasingly important role in the practice of clinical medicine. Medical genetics, once largely confined to relatively rare conditions seen by only a few specialists, is now…
The reproductive system
Breast Anatomy and physiology The breasts are modified sweat glands. The openings of the lactiferous ducts are on the apex of the nipple, which is erectile tissue. The nipple is…
The ear, nose and throat
Ear Anatomy and physiology The ear is the specialised sensory organ of hearing and balance. It is divided anatomically into the external, middle and inner ear. External ear The external…
