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Chapter 25 : Human Molecular Genetics

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Human Molecular Genetics, Page 1 of 2

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Abstract:

This activity extends the discussion of the molecular basis of genetics to human beings. The background information for students focuses on specific single-gene disorders and on the difficulties of studying genetics in humans. The activity discusses the molecular genetics of cancer. The characteristics of genetic diseases vary widely, depending on the type of change and the gene in which it occurs. Genetic diseases can be divided into three categories: chromosomal defects, single-gene disorders, and multigenic traits. Chromosomal defects include missing or extra chromosomes and rearrangement or deletion of parts of chromosomes. Chromosomal disorders include gain or loss of an entire chromosome (aneuploidy), loss of part of one or more chromosomes (deletion), transfer of one segment of a chromosome to another chromosome (translocation), and reversal of a segment of a chromosome (inversion). The best-known chromosomal disease is probably Down syndrome, caused by an extra copy of chromosome 21. A chromosomal disorder involving the sex chromosomes is Klinefelter’s syndrome. Translocations and deletions can give valuable clues to the locations and functions of particular genes. Multigene disorders including familial hypercholesterolemia, Huntington’s disease (HD) and cystic fibrosis are discussed in the chapter. Cancer is a multigene disease; evidence shows that disruption of the normal functions of several genes is usually required before cancer develops. Cystic fibrosis is the most common inherited disease of European Americans. It is a recessive disorder.

Citation: Kreuzer H, Massey A. 2008. Human Molecular Genetics, p 350-372. In Molecular Biology and Biotechnology: A Guide for Teachers, Third Edition. ASM Press, Washington, DC. doi: 10.1128/9781555816100.ch25

Key Concept Ranking

UV-Induced DNA Damage
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DNA Synthesis
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Chronic Myeloid Leukemia
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Citation: Kreuzer H, Massey A. 2008. Human Molecular Genetics, p 350-372. In Molecular Biology and Biotechnology: A Guide for Teachers, Third Edition. ASM Press, Washington, DC. doi: 10.1128/9781555816100.ch25
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Citation: Kreuzer H, Massey A. 2008. Human Molecular Genetics, p 350-372. In Molecular Biology and Biotechnology: A Guide for Teachers, Third Edition. ASM Press, Washington, DC. doi: 10.1128/9781555816100.ch25
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Image of Figure 25.1
Figure 25.1

Pigment production from tyrosine.

Citation: Kreuzer H, Massey A. 2008. Human Molecular Genetics, p 350-372. In Molecular Biology and Biotechnology: A Guide for Teachers, Third Edition. ASM Press, Washington, DC. doi: 10.1128/9781555816100.ch25
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Image of Figure 25.2
Figure 25.2

The PH enzyme converts the amino acid phenylalanine into the amino acid tyrosine.

Citation: Kreuzer H, Massey A. 2008. Human Molecular Genetics, p 350-372. In Molecular Biology and Biotechnology: A Guide for Teachers, Third Edition. ASM Press, Washington, DC. doi: 10.1128/9781555816100.ch25
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Image of Figure 25.3
Figure 25.3

(A) Red blood cells (magnification, ×4,600). (Photograph copyright M. Bessir-D. Fawcett/Visuals Unlimited.) (B) Sickle-cell anemia. (Photograph copyright Science VU/Visuals Unlimited.). (C) Normal and sickled red blood cells (magnification, ×943). (Photograph copyright George J. Wilder/Visuals Unlimited.)

Citation: Kreuzer H, Massey A. 2008. Human Molecular Genetics, p 350-372. In Molecular Biology and Biotechnology: A Guide for Teachers, Third Edition. ASM Press, Washington, DC. doi: 10.1128/9781555816100.ch25
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Image of Figure 25.4
Figure 25.4

Electrophoresis of hemoglobin from a normal individual (lane A), from an individual with sicklecell anemia (lane B), and from an individual with sicklecell trait (lane C).

Citation: Kreuzer H, Massey A. 2008. Human Molecular Genetics, p 350-372. In Molecular Biology and Biotechnology: A Guide for Teachers, Third Edition. ASM Press, Washington, DC. doi: 10.1128/9781555816100.ch25
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Image of Figure 25.5
Figure 25.5

Extracellular growth signals are relayed to the cell nucleus via a series of protein-protein interactions, beginning at the cell membrane. The change in shape triggered by a growth factor binding to its receptor initiates a cascade of changes in associated proteins, resulting in a signal being transmitted to the nucleus.

Citation: Kreuzer H, Massey A. 2008. Human Molecular Genetics, p 350-372. In Molecular Biology and Biotechnology: A Guide for Teachers, Third Edition. ASM Press, Washington, DC. doi: 10.1128/9781555816100.ch25
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Image of Figure 25.6
Figure 25.6

The cell division cycle. The stages were named for what could be seen under the light microscope. G stands for gap, because no visible activity was occurring; S signifies DNA synthesis; and M stands for mitosis. Most nondividing cells are in G1. Together, G1, S, and G2 constitute interphase.

Citation: Kreuzer H, Massey A. 2008. Human Molecular Genetics, p 350-372. In Molecular Biology and Biotechnology: A Guide for Teachers, Third Edition. ASM Press, Washington, DC. doi: 10.1128/9781555816100.ch25
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References

/content/book/10.1128/9781555816100.chap25a
1. American Society of Human Genetics. 2002. Response to allegations against James V. Neel in Darkness in El Dorado, by Patrick Tierney. American Journal of Human Genetics 70:110.
2. Barsh, G. 1996. The genetics of pigmentation: from fancy genes to complex traits. Trends in Genetics 12:299305. A fairly complex review of pigmentation genetics.
3. Ellegren, H. 2005. The dog has its day. Nature 438:745746. A perspective on the emerging role of the purebred dog in genetic studies.
4. Haseltine, W. 1997. Discovering genes for new medicines. Scientific American 276:92.
5. Neel, James. 1994. Physician to the Gene Pool . John Wiley & Sons, Inc., New York, NY.
6. Nemeroff, C. 1998. The neurobiology of depression . Scientific American 278:66. This article contains little genetics but much information on the biology of depression.
7. Pasternak, J. 1999. An Introduction to Human Molecular Genetics . Fitzgerald Scientific Press, Bethesda, MD. A new college level text on human molecular genetics, particularly diseases. It is a good reference text.
8. Plomin, R.,, and J. DeFries. 1998. The genetics of cognitive abilities and disabilities. Scientific American278:62.
9. Robbins, L. S.,, J. H. Nadeau,, K. R. Johnson,, M. A. Kelly,, L. Roselli-Rehfuss,, E. Baack,, K. G. Mountjoy,, and R. D. Cone. 1993. Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function. Cell 72:827834. This article from the primary scientific literature describes the identification of the gene responsible for yellow Lab pigmentation (and similar pigment patterns in the mouse) as the MSH-R gene. It is a complex scientific paper, and we recommend it only if you are accustomed to reading the primary literature.
10. Weiner, D.,, and R. Kennedy. 1999. Genetic vaccines. Scientific American 281:50.
11. Welsh, M.,, and A. Smith. 1995. Cystic fibrosis. Scientific American 273:52.
12. Cancer special issue. 1996. Scientific American 275(3). This issue contains articles on how cancer arises and spreads, new therapies, genetic testing for cancer genes, and more.
13. Cavenee, W. K.,, and R. L. White. 1995. Genes and cancer. Scientific American 272(3):7279.
14. Greider, C.,, and E. Blackburn. 1996. Telomeres, telomerase, and cancer. Scientific American 274(2):92.
15. Pasternak, J. 1999. An Introduction to Human Molecular Genetics . Fitzgerald Scientific Press, Bethesda, MD.
16. Perera, F. 1996. Uncovering new clues to cancer risk. Scientific American274(5):54.

Tables

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Table 25.1

Some cancer genes and the physiological roles of their products

Citation: Kreuzer H, Massey A. 2008. Human Molecular Genetics, p 350-372. In Molecular Biology and Biotechnology: A Guide for Teachers, Third Edition. ASM Press, Washington, DC. doi: 10.1128/9781555816100.ch25

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