This document provides an overview of Chapter 24 from Hole's Human Anatomy and Physiology textbook. It discusses key topics in genetics and genomics, including DNA and genes, modes of inheritance, factors that affect gene expression, sex determination, chromosome disorders, and how gene expression relates to anatomy and physiology. The chapter aims to assess students' understanding of these essential genetic concepts and their applications.

1. Chapter 24 Lecture PowerPoint Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display.

2. 2402 Anatomy and Physiology II Chapter 24 Susan Gossett [email_address] Department of Biology Paris Junior College

3. Hole’s Human Anatomy and Physiology Twelfth Edition Shier  Butler  Lewis Chapter 24 Genetics and Genomics Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display.

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

6. 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.

15. 24.1 Clinical Application Genetic Counselors Communicate Modes of Inheritance

21. (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

22. 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.

23. 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.

25. 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

33. 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

35. 24.2 Clinical Application Down Syndrome

36. 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

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

40. 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

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