ABC of clinical genetics
- نوع فایل : کتاب
- زبان : انگلیسی
- مؤلف : Helen M Kingston
- ناشر : London : BMJ Books
- چاپ و سال / کشور: 2002
- شابک / ISBN : 9780585393889.
Description
Contributors vi Preface vii 1. Clinical genetic services 1 2. Genetic assessment 5 3. Genetic counselling 8 4. Chromosomal analysis 14 5. Common chromosomal disorders 18 6. Mendelian inheritance 25 7. Unusual inheritance mechanisms 30 8. Estimation of risk in mendelian disorders 35 9. Detection of carriers 39 10. Single gene disorders 45 11. Genetics of cancer 56 12. Genetics of common disorders 63 13. Dysmorphology and teratogenesis 68 14. Prenatal diagnosis 73 15. DNA structure and gene expression 78 16. Gene mapping and molecular pathology 82 17. Techniques of DNA analysis 88 18. Molecular analysis of mendelian disorders 94 19. Treatment of genetic disorders 99 20. The internet and human genetics 104 Websites 106 Glossary 108 Further reading list 112 Index 114
This ABC is a concise, highly illustrated introduction to genetic mechanisms involved in inherited disorders. The new edition has been extensively updated with new and revised chapters to encompass rapid advances in the field. Basic genetic concepts are explained along with the application of new technologies in clinical practice. Information on relevant web sites are also included along with recommended texts for further reading
