01:119:115 Lecture Notes - Lecture 18: Prenatal Diagnosis, Malaria, Cri Du Chat
17 Aug 2016
School
Department
Course
Professor
Document Summary
B. difficulties in studying human genetics: few offspring, long generations, cannot experiment on humans, unethical. A. introduction (figure 14. 15: pedigree- family tree that shows inheritance patterns over several generations, using different shapes for gender and colors for affected people. A. introduction: much rare genetic disorders, only one defective allele required, healthy allele = healthy protein + defective allele = defective protein = no function. V. changes in chromosome number (differences in # of chromosomes can cause disease) A. normal state: disomy: having 2 copies of each chromosome (1 homologous pair), can be disrupted by error during meiosis. B. nondisjunction: homologous chromosomes fail to separate in meiosis i, more common, sister chromatids fail to separate in meiosis ii, both of these situations can lead to differences in number of chromosomes. E. trisomy 13 and 18: trisomy 13: pataue syndrome, trisome 18: edwards syndrome, very rare in live births, if born, lifespan of weeks-months usually. A. earlier diagnosis -> better chances of prevention or alleviation: testing methods.
