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HUMAN GENETICS Exam 2 Study Guide Week 6: Complex Inheritance ❒ Explain why polygenic traits can be expressed by a bell curve. What would happen to the bell curve over several generations if you only mated individuals from one extreme on the curve (see our racehorse example from class)? ❒ Explain how the additive effect of several genes can result in a polygenic trait (see our speed example from class). ❒ ❒ Define epistasis and give an example of one trait that is epistatic to another. ❒ ❒ What is the evidence that obesity is multifactorial and not completely genetic? Explain why human height is considered to be a multifactorial trait. (What is the environmental component?) Define epigenetics, and explain what effect imprinting (or methylation) has on whether or not a gene is turned on or off. Week 7: Genetics of Sex and Gender ❒ ❒ Explain why males are hemizygous for X-linked traits. ❒ Be able to complete and interpret a Punnett square for an X-linked recessive trait (such as colorblindness). ❒ Explain how human sex ratios change from birth, through adolescence, and finally into old age. What is responsible for the shift in favor of females as we age? ❒ Describe the two methods that can be used to choose the sex of a baby (sperm sorting vs. preimplantation genetic diagnosis). ❒ Explain what SRY is and how it was discovered. What is the evidence that supports the idea that SRY is important in the development of males. ❒ Be able to predict the phenotypes of people with the following mutations (note: two of these should be normal): List and describe any key facts about the sex chromosomes found in males and females. • XX without SRY • XY with SRY • XX with SRY • XY without SRY Week 8: Reproduction in Males ❒ Be able to identify the following on figures and briefly explain their function: • testis • seminiferous tubule updated 3/30/13 1 HUMAN GENETICS ❒ ❒ ❒ ❒ ❒ • epididymis • vas deferens • seminal vesicle • prostate gland • bulbourethral gland • penis Exam 2 Study Guide Explain the process of spermatogenesis • Where it occurs (in the body) • How cells physically move towards the lumen of the seminiferous tubule • How many sperm are produced from a single spermatogonium • The structure of a mature sperm • What role Sertoli cells play Explain the roles of the following hormones in spermatogenesis: • LH and FSH • testosterone • Be able to list a couple of the sexual characteristics controlled by testosterone (other than making sperm; i.e., body hair growth, deepening voice, aggressive behavior, etc.) For each of the following male reproductive system disorders, be able to: (1) explain what the condition is, (2) identify the organ(s) involved, (3) list 1-2 risk factors, and (4) briefly describe what treatment options are available: • cryptorchidism (undescended testes) • hypospadias • impotence/erectile dysfunction • BPH and prostate cancer Identify the three leading causes of male infertility. Be able to define the following: • insemination • in vitro fertilization • ICSI (intracytoplasmic sperm injection) Week 9: Reproduction in Females ❒ Be able to identify the following on figures and briefly explain their function: • ovary • oviduct/Fallopian tube updated 3/30/13 2 HUMAN GENETICS ❒ ❒ ❒ • uterus • endometrium • cervix • vagina • clitoris Exam 2 Study Guide On the figure of the female reproductive system used in class, be able to show/explain: • where sperm are deposited during ejaculation • the path that sperm travel to the oocyte • show where fertilization occurs • show where implantation occurs Explain the process of oogenesis • Where it occurs (in the body) • When it begins in a female’s life • How many oocytes are produced from a single oogonium • When the “stops” in meiosis occur (prophase I, metaphase II) • What the term ovulation refers to • What happens to the remaining follicle cells after ovulation Explain the roles of the following hormones during the female reproductive cycle • estrogen • progesterone • Explain the relationship between estrogen and progesterone and the thickening of the uterine lining. • Explain the corpus luteum’s role as a hormone-secreting structure. ❒ What is the current trend for the age of girls (and boys) entering puberty? What is a possible cause for this? ❒ ❒ Explain what menopause is and what some of the effects of menopause are. ❒ For each of the following female reproductive system disorders, be able to: (1) explain what the condition is, (2) identify the organ(s) involved, (3) list 1-2 risk factors, and (4) briefly describe what treatment options are available: • pelvic inflammatory disease (PID) and toxic shock syndrome • prolapse • endometriosis • polycystic ovarian syndrome • ovarian cancer Identify the leading causes of female infertility. updated 3/30/13 3 HUMAN GENETICS ❒ Exam 2 Study Guide Be able to define the following: • use of donors • surrogacy (Note: some of the treatments for male infertility, such as insemination and IVF, can be used for females, as well.) updated 3/30/13 4