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…
Babies and children
Babies A baby is a neonate for its first 4 weeks and an infant for its first year. Neonates are classified by gestational age or birthweight ( Box 15.1 )….
The cardiovascular system
Heart Anatomy and physiology The heart comprises two muscular pumps working in series, covered in a serous sac (pericardium) that allows free movement with each heart beat and respiration (…
Preparing for practice
The transition from medical student to junior doctor culminates in independent practice in a variety of clinical settings. This chapter addresses how the clinical skills described in this book are…
