Contetnts 9
xiv Contents
Summary 433 References 435 Review Questions 437 chapter15
Molecular Genetics of the Eye 439
Humań Visual System 440
Structure of the Eye 440
Phototransduction: Conversion of Radiant Energy into Nerve Impulses 442
Studying the Molecular Basis of Inherited Disorders of the Humań Eye 444
Genetic Disorders of the Humań Eye 445
Corneal Dystrophies 445
Glaucoma 447
Aniridia 450
Cataracts 452
Retinitis Pigmentosa 455
Congenital Stationary Night Blindness 459
Choroideremia 460
Color Vision Defects 461
from the human genetics files
462
Searchin? for the Genetic Basis of My opia
Isolation of Humań Rhodopsin and Color Opsin Genes 462 Molecular Genetics of Red and Green Color Vision Defects 463 Blue Cone Monochromacy 466 Blue Color Vision Defects 467 Rod Monochromacy 467
Key Terms 468 Summary 468 References 469 Review Questions 470 chapter16
Molecular Genetics of Cancer Syndromes 471
Celi Proliferation and Cancer 472
Signal Transduction Pathway for Celi Proliferation 473 Regulation of the Celi Division Cycle 477 Apoptosis: Programmed Celi Death 480 Tumor Metastasis 481 Oncogenes 482
Alteration of Oncogenes in Cancer Cells 485 Tumor Suppressor Genes 487
Neurofibromatoses 488
Neurofibromatosis Type 1 488
Neurofibromatosis Type 2 490
Breast Cancer 490
Retinoblastoma 493
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