KATA PENGANTAR.............................................................................V
CHAPTER 1
Pengantar.................................................................................................... 1
Genetika Dasar.......................................................................................... 2
Mutasi........................................................................................................... 6
Syndrom Non Disjunction..................................................................12
Gen Individu.............................................................................................19
Pola Pewarisan........................................................................................21
Proyek Genom Manusia ......................................................................30
Ringkasan Bab.........................................................................................32
Daftar Pustaka .......................................................................................33
CHAPTER 2
Teknik Diagnostik dalam Genetika Kesehatan..........................35
Riwayat keluarga....................................................................................35
Analisis Silsilah.......................................................................................36
Studi Sitogenetik....................................................................................40
Fluorescence in Situ Hybridization................................................44
Analisis DNA ............................................................................................47
Analisis Biokimia ...................................................................................48
Masalah Etika dengan Pengujian Genetik...................................50
Ringkasan bab.........................................................................................51
Daftar Pustaka.........................................................................................52
CHAPTER 3
Genetik Prenatal.....................................................................................54
Ringkasan..................................................................................................54
Skrening Prenatal..................................................................................56
Prenatal Diagnostic Testing...............................................................63
Apa yang bisa dilakukan dengan sampel Fluorescence
In Situ Hybridization ?.........................................................................64
Analisis Mutasi yang Diketahui .......................................................66
Residual risk ............................................................................................69
In-Vitro Fertilization dengan Preimplantation
Genetic Diagnosis (PGD) and Preimplantation Genetic
Screening (PGS)......................................................................................70
Family History.........................................................................................71
Ringkasan Bab.........................................................................................71
Referensi....................................................................................................72
CHAPTER 4
Pengembangan dan Teratogenesis.................................................74
Perkembangan Embrio .......................................................................74
Implantation............................................................................................76
Congenital Abnormalities ..................................................................80
Thalidomide.............................................................................................83
TORCH Complex.....................................................................................85
Tembakau .................................................................................................89
Kokain.........................................................................................................89
Vitamin A...................................................................................................90
Diethylstilbestrol ...................................................................................91
Ringkasan Bab ........................................................................................92