Genetic Disorders :Prevention, Treatment, and Rehabilitation
İÇİNDEKİLERCONTENTS 1. Introduction. 2. The epidemiology of genetic disease. . 2.1 Mutation......... . . 2.2 Mendelian diseases...... 2.3 Multifactorial disorders 2.4 Cytogenetic disorders..... 3. Prevention and treatment...... 3.1 Prevention of defective genotypes 3.2 Screening for genetic disease . . 3.3 Prenatal diagnosis....... 3.4 Therapy........... 4. Resources................. 4.1 Resources for counselling........ 4.2 Resources to meet anticipated future needs 5. Consequences of treatment and prevention of genetic disorders at the population level....................... 5.1 Population effects of treatment (relaxed selection)...... 5.2 Population effects of prevention of mutant genotypes..... 5.3 Population effects of selection-dependent polymorphisms . . . 6. Prospects for the near future 6.1 Epidemiology..... 6.2 Prevention...... 6.3 Treatment...... 7. Recommendations..... 7.1 Medical genetics centres 7.2 Education...... 7.3 Prenatal diagnosis . . . 7.4 Registries....... 7.5 Research....... Annex 1. Frequency of genetic disorders......... Annex 2. Hereditary diseases eligible for prenatal diagnosis Annex 3. Approximate proportion of genetic traits with significant effect on genetic fitness....................  |
