Developmental genetics is the study of how the instructions encoded in genes control and coordinate development of an organism, beginning with fertilization and ending with death. The field is important…

Humans display a substantial amount of genetic variation. This is reflected in traits such as height, blood pressure, and skin color. Included in the spectrum of genetic variation are disease…

Present evidence indicates that approximately one in four deaths is now due to cancer and that invasive cancer will be diagnosed in more than half of the population at some…

As we have seen in previous chapters, significant advances have occurred in many areas of medical genetics, including DNA sequencing technology, disease-gene identification, and cytogenetics. These developments have paved the…

The focus of previous chapters has been on diseases that are caused primarily by mutations in single genes or by abnormalities of single chromosomes. Much progress has been made in…

Prior to the decade of the 1980s practitioners of traditional medicine viewed medical genetics as a laboratory science or as an arcane and esoteric discipline. But in the last three…

The previous chapter dealt with diseases that are inherited in patterns that were first elucidated by Gregor Mendel. In this chapter we discuss disease-causing mutations that are inherited in ways…

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…

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…

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…