Molecular medical genetics

Abstract

With the completion of the Human Genome Project, DNA-based analyses have become increasingly important in the diagnosis of genetic diseases. The expanding use of genomics has led to a vast increase of basic knowledge on inherited diseases and has had a great impact on diagnostics. It is possible to identify mutations and offer diagnostic tests for an increasing number of genetic disorders. This chapter will give examples of how molecular testing is used to diagnose single-gene disorders. It is divided into modes of inheritance - autosomal recessive, autosomal dominant, X-linked, and mitochondrial - as this is often the first clue to which disease is present in a family.