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14-3 Human Molecular Genetics

14-3 Human Molecular Genetics. Testing for Alleles Genetic tests are now available for hundreds of disorders o Tay-Sachs o Cystic Fibrosis o Sickle Cell

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Page 1: 14-3 Human Molecular Genetics. Testing for Alleles Genetic tests are now available for hundreds of disorders o Tay-Sachs o Cystic Fibrosis o Sickle Cell

14-3 Human Molecular Genetics

Page 2: 14-3 Human Molecular Genetics. Testing for Alleles Genetic tests are now available for hundreds of disorders o Tay-Sachs o Cystic Fibrosis o Sickle Cell

Testing for Alleles

• Genetic tests are now available for hundreds of disorderso Tay-Sachso Cystic Fibrosiso Sickle Cell

• Helps parents see what disorders they risk passing to their children

Page 3: 14-3 Human Molecular Genetics. Testing for Alleles Genetic tests are now available for hundreds of disorders o Tay-Sachs o Cystic Fibrosis o Sickle Cell

DNA Fingerprinting• Analysis of sections of

DNA that have little or no known function, but vary widely from one individual to another, in order to identify individuals.

• What does this mean? How is it done?

Page 4: 14-3 Human Molecular Genetics. Testing for Alleles Genetic tests are now available for hundreds of disorders o Tay-Sachs o Cystic Fibrosis o Sickle Cell

What is DNA Fingerprinting used for?

Paternity TestingMissing

Persons

Forensic Science (Crime Investigations & Body Identification)

Page 5: 14-3 Human Molecular Genetics. Testing for Alleles Genetic tests are now available for hundreds of disorders o Tay-Sachs o Cystic Fibrosis o Sickle Cell
Page 6: 14-3 Human Molecular Genetics. Testing for Alleles Genetic tests are now available for hundreds of disorders o Tay-Sachs o Cystic Fibrosis o Sickle Cell

Review

Page 7: 14-3 Human Molecular Genetics. Testing for Alleles Genetic tests are now available for hundreds of disorders o Tay-Sachs o Cystic Fibrosis o Sickle Cell

The Human Genome Project

• It took 10 years to sequence all 46 chromosomes (1990 – 2000)

• Human genome = roughly 3,000,000,000 base pairs (3 billion bp)

• How is it done?

Page 8: 14-3 Human Molecular Genetics. Testing for Alleles Genetic tests are now available for hundreds of disorders o Tay-Sachs o Cystic Fibrosis o Sickle Cell

E. coli genome ≈ 5 million base pairs.

Loblolly pine ≈ 23 billion base pairs

Human genome ≈ roughly 3 billion base pairs

Longest Genome

Sequence to Date

Page 9: 14-3 Human Molecular Genetics. Testing for Alleles Genetic tests are now available for hundreds of disorders o Tay-Sachs o Cystic Fibrosis o Sickle Cell

• 21,000 genes are on the 46 chromosomes in the Human Genome

Page 10: 14-3 Human Molecular Genetics. Testing for Alleles Genetic tests are now available for hundreds of disorders o Tay-Sachs o Cystic Fibrosis o Sickle Cell
Page 11: 14-3 Human Molecular Genetics. Testing for Alleles Genetic tests are now available for hundreds of disorders o Tay-Sachs o Cystic Fibrosis o Sickle Cell
Page 12: 14-3 Human Molecular Genetics. Testing for Alleles Genetic tests are now available for hundreds of disorders o Tay-Sachs o Cystic Fibrosis o Sickle Cell

Gene Therapy• The process of

changing the gene that causes a genetic disorder by using a recombinant virus (vector) to insert an unaffected gene into the DNA.

• An absent or faulty gene is replaced by a normal, working gene.

Page 13: 14-3 Human Molecular Genetics. Testing for Alleles Genetic tests are now available for hundreds of disorders o Tay-Sachs o Cystic Fibrosis o Sickle Cell