Diagnosis of Genetic Disorders at the DNA Level

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Abstract
EXTRAORDINARY progress in the understanding of the structure and function of human genes has been made in the past 25 years. Techniques have been developed for the manipulation and study of genes in both normal and abnormal states. Many of these achievements have been extremely important to medicine, and they have led to the diagnosis of basic defects at the DNA level and the understanding of the biochemical mechanisms of several diseases.Most of the progress has related to disorders due to a defect in a single gene. In this category of genetic diseases, there is clear Mendelian inheritance of . . .