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Chapter 18: Molecular Biology and Medicine CHAPTER 18 Molecular Biology and Medicine

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  • Chapter 18: Molecular Biology and Medicine CHAPTER 18 Molecular Biology and Medicine
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  • Chapter 18: Molecular Biology and Medicine Protein as Phenotype Protein as Phenotype Mutations and Human Diseases Mutations and Human Diseases Detecting Human Genetic Variations Detecting Human Genetic Variations Cancer: A Disease of Genetic Changes Cancer: A Disease of Genetic Changes Treating Genetic Diseases Treating Genetic Diseases Sequencing the Human Genome Sequencing the Human Genome
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  • Chapter 18: Molecular Biology and Medicine Protein as Phenotype In many human genetic diseases, a single protein is missing or nonfunctional.In many human genetic diseases, a single protein is missing or nonfunctional. Therefore, the one-gene, one-polypeptide relationship applies to human genetic diseases.Therefore, the one-gene, one-polypeptide relationship applies to human genetic diseases. Review Figure 18.1 18.1 3
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  • Chapter 18: Molecular Biology and Medicine 18.1 Figure 18.1 figure 18-01.jpg
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  • Chapter 18: Molecular Biology and Medicine Protein as Phenotype A mutation in a single gene causes alterations in its protein product that may lead to clinical abnormalities or have no effect.A mutation in a single gene causes alterations in its protein product that may lead to clinical abnormalities or have no effect. Review Figure 18.2 18.2 5
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  • Chapter 18: Molecular Biology and Medicine 18.2 Figure 18.2 figure 18-02.jpg
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  • Chapter 18: Molecular Biology and Medicine Protein as Phenotype Some diseases are caused by mutations that affect structural proteins.Some diseases are caused by mutations that affect structural proteins.7
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  • Chapter 18: Molecular Biology and Medicine Protein as Phenotype Genes that code for receptors and membrane transport proteins can also be mutated and cause other diseases.Genes that code for receptors and membrane transport proteins can also be mutated and cause other diseases. Review Figure 18.3 18.3 8
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  • Chapter 18: Molecular Biology and Medicine 18.3 Figure 18.3 Part 1 figure 18-03a.jpg
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  • Chapter 18: Molecular Biology and Medicine 18.3 Figure 18.3 Part 2 figure 18-03b.jpg
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  • Chapter 18: Molecular Biology and Medicine Protein as Phenotype Prion diseases are caused by a protein with an altered shape transmitted from one person to another and altering the same protein in the second person.Prion diseases are caused by a protein with an altered shape transmitted from one person to another and altering the same protein in the second person.11
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  • Chapter 18: Molecular Biology and Medicine Protein as Phenotype Few human diseases are caused by a single- gene mutation.Few human diseases are caused by a single- gene mutation. Most are caused by interactions of many genes and proteins with the environment.Most are caused by interactions of many genes and proteins with the environment.12
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  • Chapter 18: Molecular Biology and Medicine Protein as Phenotype Human genetic diseases show different inheritance patterns.Human genetic diseases show different inheritance patterns. Mutant alleles may be inherited as autosomal recessives, autosomal dominants, X-linked conditions, or chromosomal abnormalities.Mutant alleles may be inherited as autosomal recessives, autosomal dominants, X-linked conditions, or chromosomal abnormalities.13
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  • Chapter 18: Molecular Biology and Medicine Mutations and Human Diseases Molecular biology techniques have made possible the isolation of many genes responsible for human diseases.Molecular biology techniques have made possible the isolation of many genes responsible for human diseases.14
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  • Chapter 18: Molecular Biology and Medicine Mutations and Human Diseases One method of identifying the gene responsible for a disease is to isolate the mRNA for the protein in question and use the mRNA to isolate the gene from a gene library.One method of identifying the gene responsible for a disease is to isolate the mRNA for the protein in question and use the mRNA to isolate the gene from a gene library. DNA from a patient lacking a piece of a chromosome can be compared to that of a person not showing this deletion to isolate a missing gene.DNA from a patient lacking a piece of a chromosome can be compared to that of a person not showing this deletion to isolate a missing gene. Review Figure 18.6Review Figure 18.618.6 15
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  • Chapter 18: Molecular Biology and Medicine 18.6 Figure 18.6 figure 18-06.jpg
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  • Chapter 18: Molecular Biology and Medicine Mutations and Human Diseases In positional cloning, DNA markers are used to point the way to a gene.In positional cloning, DNA markers are used to point the way to a gene. Markers may be restriction fragment length polymorphisms linked to a mutant gene.Markers may be restriction fragment length polymorphisms linked to a mutant gene. Review Figure 18.7 18.7 17
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  • Chapter 18: Molecular Biology and Medicine 18.7 Figure 18.7 figure 18-07.jpg
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  • Chapter 18: Molecular Biology and Medicine Mutations and Human Diseases Human mutations range from single point mutations to large deletions.Human mutations range from single point mutations to large deletions. Some common mutations occur where the modified base 5-methylcytosine is converted to thymine. Some common mutations occur where the modified base 5-methylcytosine is converted to thymine. Review Figure 18.8, Table 1 18.8 19
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  • Chapter 18: Molecular Biology and Medicine 18.8 Figure 18.8 figure 18-08.jpg
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  • Chapter 18: Molecular Biology and Medicine Mutations and Human Diseases Effects of the fragile-X chromosome worsen with each generation.Effects of the fragile-X chromosome worsen with each generation. This pattern is caused by a triplet repeat that tends to expand with each generation.This pattern is caused by a triplet repeat that tends to expand with each generation. Review Figure 18.9 18.9 21
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  • Chapter 18: Molecular Biology and Medicine 18.9 Figure 18.9 figure 18-09
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  • Chapter 18: Molecular Biology and Medicine Mutations and Human Diseases Genomic imprinting results in a gene being differentially expressed depending on which parent it comes from.Genomic imprinting results in a gene being differentially expressed depending on which parent it comes from.23
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  • Chapter 18: Molecular Biology and Medicine Detecting Human Genetic Variations Genetic screening detects human gene mutations.Genetic screening detects human gene mutations. Some protein abnormalities can be detected by tests for the presence of excess substrate or lack of product.Some protein abnormalities can be detected by tests for the presence of excess substrate or lack of product. Review Figure 18.10 18.10 24
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  • Chapter 18: Molecular Biology and Medicine 18.10 Figure 18.10 figure 18-10.jpg
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  • Chapter 18: Molecular Biology and Medicine Detecting Human Genetic Variations The advantage of testing DNA for mutations directly is that any cell can be tested at any time in the life cycle.The advantage of testing DNA for mutations directly is that any cell can be tested at any time in the life cycle.26
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  • Chapter 18: Molecular Biology and Medicine Detecting Human Genetic Variations There are two methods of DNA testing: allele-specific cleavage and allele-specific oligonucleotide hybridization.There are two methods of DNA testing: allele-specific cleavage and allele-specific oligonucleotide hybridization. Review Figures 18.11, 18.12 18.1118.1218.1118.1227
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  • Chapter 18: Molecular Biology and Medicine 18.11 Figure 18.11 figure 18-11.jpg
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  • Chapter 18: Molecular Biology and Medicine 18.12 Figure 18.12 figure 18-12.jpg
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  • Chapter 18: Molecular Biology and Medicine Cancer: A Disease of Genetic Changes Tumors may be benign, growing to a certain extent and stopping, or malignant, spreading through organs and to other parts of the body.Tumors may be benign, growing to a certain extent and stopping, or malignant, spreading through organs and to other parts of the body.30
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  • Chapter 18: Molecular Biology and Medicine Cancer: A Disease of Genetic Changes At least five types of human cancers are caused by viruses, accounting for about 15 percent of all cancers.At least five types of human cancers are caused by viruses, accounting for about 15 percent of all cancers. Review Table 18.2 18.2 31
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  • Chapter 18: Molecular Biology and Medicine 18.2 Table 18.2 table 18-02.jpg
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  • Chapter 18: Molecular Biology and Medicine Cancer: A Disease of Genetic Changes Eighty-five percent of human cancers are caused by genetic mutations of somatic cells.Eighty-five percent of human cancers are caused by genetic mutations of somatic cells. These occur most commonly in dividing cells.These occur most commonly in dividing cells. Review Figure 18.14 18.14 33
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