1. BIOL 2074: HUMAN ANATOMY & PHYSIOLOGY II CHAPTER 24 GENETICS EDITED BY BHOLMES MSN/ED, RN ASSOCIATE PROFESSOR Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display.

3. DNA Base pair Cell Gene Nucleus Chromosome Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display.

4. Chromosome 7 (a) Organs affected in cystic fibrosis (b) Transcription Translation Cell membrane DNA mRNA Cystic fibrosis transmembrane conductance regulator (CFTR) protein Airways Mucus-clogged bronchi and bronchioles. Respiratory infections. (Common) Liver Blocked small bile ducts impair digestion. (Rare) Pancreas Blocked ducts prevent release of digestive enzymes, impairing fat digestion. Diabetes is possible. (Common) Intestines Hard stools may block intestines. (Rare) Reproductive tract Absence of ductus deferens. (Common) Skin Salty sweat. (Common) Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display.

13. 24.1 Clinical Application Genetic Counselors Communicate Modes of Inheritance

19. (a) (b) Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display. a: © Library of Congress; b: © Peter Morenus/University of Connecticut at Storrs

20. Number of dominant alleles Frequency 0 1 2 3 4 5 6 aabbcc aabbCc aabbCC AaBBcc AABbCc AABBCc aaBbcc aaBBcc aaBBCc AaBBCc AABbCC Aabbcc AAbbcc AABbcc AaBbCC aaBbCc AabbCC AABBcc AabbCc AAbbCc AAbbCC AaBbcc aaBbCC AaBbCc aaBBCC AaBBCC AABBCC Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display.

21. AABB AABb AaBB AABb AAbb AaBb AaBB AaBb AaBb AaBb aaBB AaBb Aabb aaBb AaBb Light blue 1/16 Deep blue or green Light brown Medium brown Dark brown/black Aabb aaBb aabb AB AB Ab aB ab Ab aB ab 4/16 6/16 4/16 1/16 0 1 2 3 4 Phenotype frequency Number of dominant alleles Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display.

23. Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display. + + X Egg X Egg Y X X-bearing sperm Y-bearing sperm XX female XY male

31. Monosomic Monosomic Euploid Euploid Monosomic Zygotes Meiosis II A A a a A A a a A A a a Meiosis I (a) (b) A A a a A a A a a a A A Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display. First division nondisjunction Primary spermatocyte Secondary spermatocyte Sperm Second division nondisjunction Fertilization of euploid egg Trisomic Trisomic Trisomic

33. 24.2 Clinical Application Down Syndrome

34. Prenatal Tests Detect Chromosome Abnormalities Placenta Catheter Fetus Cervix Syringe (a) Chorionic villus sampling Uterus (c) Fetal cell sorting Rare fetal cells Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display. Chorionic villi Vagina Amniotic membrane Fetus 15–16 weeks (b) Amniocentesis

35. Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display. © Bernard Bennot/SPL/Photo Researchers, Inc.

38. ALL MLL AML σ = standard deviation from mean -3 σ -2 σ -1 σ 0 +1 σ +2 σ +3 σ Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display. © S.A. Armstrong et al. MLL translocations specify a distinct gene expression profile that distinguishes a unique leukemia. Nature Genetics Vol. 30, Fig. 5, p. 41-47, January 2002

43. Quiz 24 Congratulations! You have completed Hole’s Anatomy & Physiology, 12e.