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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.
24.1: Introduction ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
DNA Base pair Cell Gene Nucleus Chromosome Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display.
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.
24.2: Modes of Inheritance ,[object Object],[object Object],[object Object]
Chromosomes and Genes  Come in Pairs ,[object Object],[object Object],[object Object],1 2 3 4 5 6 7 8 10 9 12 13 14 15 16 17 18 19 20 21 22 Sex chromosomes (female) 11 Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display. © SPL/Photo Researchers, Inc.
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Chromosomes and Genes  Come in Pairs
Dominant and Recessive Inheritance ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
cf cf cf cf cf cf Punnett Square Carrier parents + + + cf + cf cf cf (a) (b) (c) For each child conceived: I II Mary Joe Bill Sue T ina Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display. + = wild type allele cf = cystic fibrosis allele + cf + cf 25% chance unaffected noncarrier 50% chance unaffected carrier (cf allele inherited from either parent) 25% chance affected ,[object Object],[object Object],[object Object]
Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display. (a) (b) (c) I II Ann Dan Eric Pam HD HD HD Punnett Square + = wild type allele HD = Huntington disease allele + HD Affected parent + + Unaffected parent For each Individual conceived: 50% chance unaffected 50% chance affected + + +  HD ,[object Object],[object Object],[object Object]
Different Dominance Relationships ,[object Object],[object Object],[object Object],[object Object],Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display. 500 400 300 200 0 100 600 1000 900 800 700 Plasma cholesterol (milligrams/deciliter) Homozygotes for FH Heterozygotes for FH General population From Genest, Jacques, Jr., Lavoie, Marc-Andre.  August 12, 1999.  "Images in Clinical Medicine." New England Journal of Medicine, pp 490.  ©1999, Massachusetts Medical Society.  All Rights Reserved.
Different Dominance Relationships: Codominance ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
24.1 Clinical Application Genetic Counselors Communicate Modes of Inheritance
24.3: Factors That Affect Expression of Single Genes ,[object Object],[object Object]
Penetrance and Expressivity ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Pleiotropy ,[object Object],[object Object],[object Object],[object Object]
Genetic Heterogeneity ,[object Object],[object Object],[object Object]
24.4: Multifactorial Traits ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
(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
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.
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.
24.5: Matters of Sex ,[object Object],[object Object],[object Object],[object Object]
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
Sex Determination ,[object Object],[object Object],[object Object],X chromosome SRY gene Y chromosome Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display. © Biophoto Associates/Photo Researchers, Inc.
Genes of the Sex Chromosomes ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Hemophilia ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Gender Effects on Phenotype ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
24.6: Chromosome Disorders ,[object Object],[object Object],[object Object]
Polyploidy ,[object Object],[object Object],[object Object],[object Object],[object Object]
Aneuploidy ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
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
24.2 Clinical Application Down Syndrome
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
Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display. © Bernard Bennot/SPL/Photo Researchers, Inc.
24.7: Gene Expression Explains Aspects of Anatomy and Physiology ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
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
Important Points in Chapter 24: Outcomes to be Assessed ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Important Points in Chapter 24: Outcomes to be Assessed ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Important Points in Chapter 24: Outcomes to be Assessed ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Important Points in Chapter 24: Outcomes to be Assessed ,[object Object],[object Object],[object Object]
Congratulations!  You have completed  Hole’s Anatomy & Physiology, 12e. Final Exam over 22, 23 & 24

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Chapt24 genetics

  • 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.
  • 2.
  • 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.
  • 5.
  • 6.
  • 7.
  • 8.
  • 9.
  • 10.
  • 11.
  • 12.
  • 13. 24.1 Clinical Application Genetic Counselors Communicate Modes of Inheritance
  • 14.
  • 15.
  • 16.
  • 17.
  • 18.
  • 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.
  • 22.
  • 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
  • 24.
  • 25.
  • 26.
  • 27.
  • 28.
  • 29.
  • 30.
  • 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
  • 32.
  • 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.
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  • 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
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  • 43. Congratulations! You have completed Hole’s Anatomy & Physiology, 12e. Final Exam over 22, 23 & 24