Book Viewer

Short Contents | Full Contents | Other books @ NCBI

Modern Genetic Analysis Chapter 11. Applications of Recombinant DNA Technology Using Recombinant DNA to Detect Disease Alleles Directly
Table 11-1. Some Common Genetic Diseases

Inborn errors of metabolism | Approximate incidence among live births

1. Cystic fibrosis | 1/1600 Caucasians
2. Duchenne muscular dystrophy | 1/3000 boys (X-linked)
3. Gaucher disease (defective glucocerebrosidase) | 1/2500 Ashkenazi Jews; 1/75,000 others
4. Tay-Sachs disease (defective hexosaminidase A) | 1/3500 Ashkenazi Jews; 1/35,000 others
5. Essential pentosuria (a benign condition) | 1/2000 Ashkenazi Jews; 1/50,000 others
6. Classic hemophilia (defective clotting factor VIII) | 1/10,000 boys (X-linked)
7. Phenylketonuria (defective phenylalanine hydroxylase) | 1/5000 Celtic Irish; 1/15,000 others
8. Cystinuria (mutated gene unknown) | 1/15,000
9. Metachromatic leukodystrophy (defective arylsulfatase A) | 1/40,000
10. Galactosemia (defective galactose 1-phosphate uridyl transferase) | 1/40,000
Hemoglobinopathies | Approximate incidence among live births
1. Sickle-cell anemia (defective b -globin chain) | 1/400 U.S. blacks. In some West African populations, the frequency of heterozygotes is 40%.
2. b -Thalassemia (defective b -globin chain) | 1/400 among some Mediterranean populations

NOTE: Although a vast majority of more than 500 recognized recessive genetic diseases are extremely rare, in combination they constitute an enormous burden of human suffering. As is consistent with Mendelian mutations, the incidence of some of these diseases is much higher in certain racial groups than in others.SOURCE: J. D. Watson, M. Gilman, J. Witkowski, and D. T. Kurtz, Recombinant DNA, 2d ed. Scientific American Books. Copyright © 1992 by J. D. Watson, M. Gilman, J. Witkowski, and D. T. Kurtz.

© 1999 by W. H. Freeman and Company. All rights reserved.