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Mulvihill, Zelman, Holdaway, Tompary, and Raymond Human Diseases: A Systemic Approach, 6e Copyright ©2006 by Prentice-Hall, Inc. Upper Saddle River, New.

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Presentation on theme: "Mulvihill, Zelman, Holdaway, Tompary, and Raymond Human Diseases: A Systemic Approach, 6e Copyright ©2006 by Prentice-Hall, Inc. Upper Saddle River, New."— Presentation transcript:

1 Mulvihill, Zelman, Holdaway, Tompary, and Raymond Human Diseases: A Systemic Approach, 6e Copyright ©2006 by Prentice-Hall, Inc. Upper Saddle River, New Jersey 07458 All rights reserved. Human Diseases A Systemic Approach Sixth Edition Chapter 5 Heredity and Disease Mary Lou Mulvihill Mark Zelman Paul Holdaway Elaine Tompary Jill Raymond

2 Chapter 5 Heredity and Disease Slide 10Sickle Cells Slide 10Sickle Cells Slide 24Down Syndrome Slide 24Down Syndrome Multimedia Asset Directory Mulvihill, Zelman, Holdaway, Tompary, and Raymond Human Diseases: A Systemic Approach, 6e Copyright ©2006 by Prentice-Hall, Inc. Upper Saddle River, New Jersey 07458 All rights reserved.

3 Mulvihill, Zelman, Holdaway, Tompary, and Raymond Human Diseases: A Systemic Approach, 6e Copyright ©2006 by Prentice-Hall, Inc. Upper Saddle River, New Jersey 07458 All rights reserved. Heredity  DNA – blueprint  45 chromosomes (genes) (alleles)  44 autosomes  2 sex chromosomes: X and Y  Karyotype

4 Mulvihill, Zelman, Holdaway, Tompary, and Raymond Human Diseases: A Systemic Approach, 6e Copyright ©2006 by Prentice-Hall, Inc. Upper Saddle River, New Jersey 07458 All rights reserved. Genetic Inheritance  Alleles – Homozygous – Heterozygous – Dominant – Recessive

5 Mulvihill, Zelman, Holdaway, Tompary, and Raymond Human Diseases: A Systemic Approach, 6e Copyright ©2006 by Prentice-Hall, Inc. Upper Saddle River, New Jersey 07458 All rights reserved. Figure 5-1: Meiosis.

6 Mulvihill, Zelman, Holdaway, Tompary, and Raymond Human Diseases: A Systemic Approach, 6e Copyright ©2006 by Prentice-Hall, Inc. Upper Saddle River, New Jersey 07458 All rights reserved. Figure 5-2: Normal human karyotype. (©Custom Medical Stock Photo.)

7 Mulvihill, Zelman, Holdaway, Tompary, and Raymond Human Diseases: A Systemic Approach, 6e Copyright ©2006 by Prentice-Hall, Inc. Upper Saddle River, New Jersey 07458 All rights reserved. Table 5-1: Hereditary Disease Locations

8 Mulvihill, Zelman, Holdaway, Tompary, and Raymond Human Diseases: A Systemic Approach, 6e Copyright ©2006 by Prentice-Hall, Inc. Upper Saddle River, New Jersey 07458 All rights reserved. Autosomal Dominant  Transmission of a dominant allele  50% chance of being affected  Disease appears in every generation  Males and females equally being affected

9 Mulvihill, Zelman, Holdaway, Tompary, and Raymond Human Diseases: A Systemic Approach, 6e Copyright ©2006 by Prentice-Hall, Inc. Upper Saddle River, New Jersey 07458 All rights reserved. Figure 5-3: Transmission of autosomal dominant disorders. (50% chance for an affected child).

10 Mulvihill, Zelman, Holdaway, Tompary, and Raymond Human Diseases: A Systemic Approach, 6e Copyright ©2006 by Prentice-Hall, Inc. Upper Saddle River, New Jersey 07458 All rights reserved. Click on the screenshot to view an animation showing sickle cells. Return to Directory

11 Mulvihill, Zelman, Holdaway, Tompary, and Raymond Human Diseases: A Systemic Approach, 6e Copyright ©2006 by Prentice-Hall, Inc. Upper Saddle River, New Jersey 07458 All rights reserved. Autosomal Dominant Diseases  Polydactyly  Achondroplasia  Marfan’s syndrome  Familial hypercholesterolemia

12 Mulvihill, Zelman, Holdaway, Tompary, and Raymond Human Diseases: A Systemic Approach, 6e Copyright ©2006 by Prentice-Hall, Inc. Upper Saddle River, New Jersey 07458 All rights reserved. Figure 5-4: A 12-year old Achondroplastic dwarf. Note the disproportion of the limbs to the trunk, the curvature of the spine, and the prominent buttocks.

13 Mulvihill, Zelman, Holdaway, Tompary, and Raymond Human Diseases: A Systemic Approach, 6e Copyright ©2006 by Prentice-Hall, Inc. Upper Saddle River, New Jersey 07458 All rights reserved. Autosomal Recessive  Disease manifests when individual is homozygous for the defective allele  Parents are carriers; they do not have the disease  Child has a 25% chance of being affected  Recessive allele appears more frequently in close intermarriages

14 Mulvihill, Zelman, Holdaway, Tompary, and Raymond Human Diseases: A Systemic Approach, 6e Copyright ©2006 by Prentice-Hall, Inc. Upper Saddle River, New Jersey 07458 All rights reserved. Figure 5-5: Transmission of recessive disorders (25% chance for an affected child).

15 Mulvihill, Zelman, Holdaway, Tompary, and Raymond Human Diseases: A Systemic Approach, 6e Copyright ©2006 by Prentice-Hall, Inc. Upper Saddle River, New Jersey 07458 All rights reserved. Autosomal Recessive Diseases  Phenylketonuria  Galactosemia  Sickle cell anemia  Tay-Sachs disease  Albinism

16 Mulvihill, Zelman, Holdaway, Tompary, and Raymond Human Diseases: A Systemic Approach, 6e Copyright ©2006 by Prentice-Hall, Inc. Upper Saddle River, New Jersey 07458 All rights reserved. Normal red blood cells. (©Phototake NYC.)

17 Mulvihill, Zelman, Holdaway, Tompary, and Raymond Human Diseases: A Systemic Approach, 6e Copyright ©2006 by Prentice-Hall, Inc. Upper Saddle River, New Jersey 07458 All rights reserved. Sickle blood cells. (©Photo Researchers, Inc.)

18 Mulvihill, Zelman, Holdaway, Tompary, and Raymond Human Diseases: A Systemic Approach, 6e Copyright ©2006 by Prentice-Hall, Inc. Upper Saddle River, New Jersey 07458 All rights reserved. Figure 5-6: Enzyme block in phenylketonuria (PKU)

19 Mulvihill, Zelman, Holdaway, Tompary, and Raymond Human Diseases: A Systemic Approach, 6e Copyright ©2006 by Prentice-Hall, Inc. Upper Saddle River, New Jersey 07458 All rights reserved. Sex-Linked Inheritance  Defective gene on X chromosome  Defective X on male is unmasked and the trait is expressed.  Female is carrier for the disease; heterozygous  Male transmits the defective allele to his daughters.

20 Mulvihill, Zelman, Holdaway, Tompary, and Raymond Human Diseases: A Systemic Approach, 6e Copyright ©2006 by Prentice-Hall, Inc. Upper Saddle River, New Jersey 07458 All rights reserved. Figure 5-7: Transmission of sex-linked disorders.

21 Mulvihill, Zelman, Holdaway, Tompary, and Raymond Human Diseases: A Systemic Approach, 6e Copyright ©2006 by Prentice-Hall, Inc. Upper Saddle River, New Jersey 07458 All rights reserved. Autosomal Recessive Diseases  Color blindness: inability to distinguish colors  Hemophilia  Fragile X syndrome – a break or weakness on long arm of X chromosome

22 Mulvihill, Zelman, Holdaway, Tompary, and Raymond Human Diseases: A Systemic Approach, 6e Copyright ©2006 by Prentice-Hall, Inc. Upper Saddle River, New Jersey 07458 All rights reserved. Abnormal Chromosome Diseases  Altered number or structure  Failure of chromosome to separate during cell division  Loss of autosome is usually incompatible with life

23 Mulvihill, Zelman, Holdaway, Tompary, and Raymond Human Diseases: A Systemic Approach, 6e Copyright ©2006 by Prentice-Hall, Inc. Upper Saddle River, New Jersey 07458 All rights reserved. Down Syndrome  Caused by the presence of an extra autosome, nondisjunction  Results in mental retardation and shorter life expectancy  Characteristic appearance: slanted eyes, extra fold of skin at upper medial corner of the eye, protrusion of the tongue, short nose  Short stature, underdeveloped sex organs

24 Mulvihill, Zelman, Holdaway, Tompary, and Raymond Human Diseases: A Systemic Approach, 6e Copyright ©2006 by Prentice-Hall, Inc. Upper Saddle River, New Jersey 07458 All rights reserved. Click on the screenshot to view a video on the topic of Down syndrome. Return to Directory

25 Mulvihill, Zelman, Holdaway, Tompary, and Raymond Human Diseases: A Systemic Approach, 6e Copyright ©2006 by Prentice-Hall, Inc. Upper Saddle River, New Jersey 07458 All rights reserved. Figure 5-8: Girl with Down syndrome. (©Beebe / Custom Medical Stock Photo.)

26 Mulvihill, Zelman, Holdaway, Tompary, and Raymond Human Diseases: A Systemic Approach, 6e Copyright ©2006 by Prentice-Hall, Inc. Upper Saddle River, New Jersey 07458 All rights reserved. Familial Disease  Diseases run in families but means of inheritance are not understood  Most likely the effects of several genes working together  Examples: diabetes, allergies, familial polyposis

27 Mulvihill, Zelman, Holdaway, Tompary, and Raymond Human Diseases: A Systemic Approach, 6e Copyright ©2006 by Prentice-Hall, Inc. Upper Saddle River, New Jersey 07458 All rights reserved. Cri Du Chat Syndrome  Cat-like cry  Caused by deletion of part of the short arm of chromosome 5  Results in an abnormally small head with a deficiency in cerebral brain tissue  Widely spaced eyes and mental retardation

28 Mulvihill, Zelman, Holdaway, Tompary, and Raymond Human Diseases: A Systemic Approach, 6e Copyright ©2006 by Prentice-Hall, Inc. Upper Saddle River, New Jersey 07458 All rights reserved. Sex Anomalies  Turner’s syndrome: missing sex chromosome  Klinefelter’s syndrome: extra sex chromosome  Hermaphrodite: has both testes and ovaries  Pseudohermaphrodite: has either

29 Mulvihill, Zelman, Holdaway, Tompary, and Raymond Human Diseases: A Systemic Approach, 6e Copyright ©2006 by Prentice-Hall, Inc. Upper Saddle River, New Jersey 07458 All rights reserved. Figure 5-9: A 21-year-old patient with Turner’s syndrome. The chest is broad and the nipples are small and pale. Pubic hair is totally lacking.

30 Mulvihill, Zelman, Holdaway, Tompary, and Raymond Human Diseases: A Systemic Approach, 6e Copyright ©2006 by Prentice-Hall, Inc. Upper Saddle River, New Jersey 07458 All rights reserved. Figure 5-10: A 19-year-old patient with Klinefelter’s syndrome. Extremities are excessively long, pubic hair is scanty, and genitals undeveloped. Body proportions resemble those of a eunuch.

31 Mulvihill, Zelman, Holdaway, Tompary, and Raymond Human Diseases: A Systemic Approach, 6e Copyright ©2006 by Prentice-Hall, Inc. Upper Saddle River, New Jersey 07458 All rights reserved. Figure 5-11: A 22-year-old patient with pseudohermaphroditism, reared as a girl because of ambiguous genitalia. Surgery and tissue studies showed the gonads to be testes.

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