Chapter 10.2: Genotyping a Known Disease-Causing Mutation

Question 1

Describe preimplantation embryo diagnosis

Answer 1

o Preimplantation embryo diagnosis begins when a woman is injected with follicle stimulating hormone (FSH) to stimulate the maturation of about 10 eggs in her ovaries
 An obstetrician then removes the eggs from the ovaries and fertilizes them in vitro with her partner’s sperm
 The fertilized eggs are then incubated for several days, allowing several cycles of mitotic division so as to produce early embryos containing 6-10 cells
 Single cell is PCR amplified and studied

Question 2

Define amniocentesis

Answer 2

o Physicians can isolate fetal cells by amniocentesis, a procedure in which some of the amniotic fluid surrounding the fetus in the mother’s womb is extracted using a needle