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Chapter 12

Chapter 12. Advanced Genetics. 11.3 Section Summary 6.3 – pages 296 - 301. Mutations. Mutation: a change in __. May involve : an entire __ a specific __ may take place in __ cell.

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Chapter 12

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  1. Chapter 12 Advanced Genetics

  2. 11.3 Section Summary 6.3 – pages 296 - 301 Mutations • Mutation: a change in __. • May involve : • an entire __ • a specific __ • may take place in __ cell • When a mutation takes place the DNA is changed which affects the production of __. This may affect metabolism, development, or result in a new phenotype.

  3. 11.3 Section Summary 6.3 – pages 296 - 301 Mutations in reproductive cells • Germ cell mutation - occurs in the __ cells. • This does not affect that organism but may be passed on to the __. • If this cell takes part in __, the altered gene would become part of the genetic makeup of the offspring.

  4. 11.3 Section Summary 6.3 – pages 296 - 301 Mutations in reproductive cells result in: • A __ mutation - the embryo does not survive. • A __ that does not work correctly. • In some rare cases it may have a __ effect.

  5. 11.3 Section Summary 6.3 – pages 296 - 301 Mutations in body cells • __ mutations - mutations in body cells • Ex) • This mutation would __ be passed on to offspring.

  6. 11.3 Section Summary 6.3 – pages 296 - 301 Mutations in body cells result in: • Impairing the __ of the cell. • When that cell divides, the new cells also will have the same mutation. • Affecting genes that control __. • Cells may grow and divide rapidly, producing __

  7. 11.3 Section Summary 6.3 – pages 296 - 301 Types of Mutations • A) __: a change in a single base pair in DNA. • A single nitrogen base is __ by another • This may have __ noticeable affect or it can change the entire structure of a __ because a change in a single amino acid can affect the shape of the protein.

  8. 11.3 Section Summary 6.3 – pages 296 - 301 The effects of point mutations mRNA Normal Stop Protein ReplaceGwithA mRNA Point mutation Stop Protein

  9. 11.3 Section Summary 6.3 – pages 296 - 301 • B) __: mutation in which a single base is added or deleted from DNA. • Results in every __ after either the added or deleted base to be different. • This mutation would cause nearly every __ in the protein after the __ to be changed.

  10. 11.3 Section Summary 6.3 – pages 296 - 301 Frameshift mutations Deletion of U Frameshift mutation mRNA Protein

  11. 11.3 Section Summary 6.3 – pages 296 - 301 • C) __: Structural changes in chromosomes. • Occur during __ • can be either changes in the __ of a chromosome or a __ of an entire chromosome. • Are more __ types of mutations. • __ are passed on to the next generation because the zygote usually dies. • In cases where the zygote lives and develops, the mature organism is often __.

  12. 11.3 Section Summary 6.3 – pages 296 - 301 Types of Chromosomal Alterations • 1) Deletion- __. • It breaks off and all that information is now lost. A B C E F G H ABCDEFGH Deletion

  13. 11.3 Section Summary 6.3 – pages 296 - 301 Chromosomal Alterations • 2) Duplication (__)- When part of a chromatid breaks off and attaches to its sister chromatid. • The result is a duplication of genes on the __ chromosome. A B C D E F G H A B C B C D E F G H Insertion

  14. 11.3 Section Summary 6.3 – pages 296 - 301 Chromosomal Alterations • 3) Inversion- When part of a chromosome breaks off and __. A B C D E F G H A D C B E F G H Inversion

  15. 11.3 Section Summary 6.3 – pages 296 - 301 Chromosomal Alterations • 4) Translocation- When part of one chromosome breaks off and is added to __. G A B C D E F H W X A B C D E F G H Z W X Y Y Z Translocation

  16. 11.3 Section Summary 6.3 – pages 296 - 301 Causes of Mutations • 1) __ mutations: mutations that just seem to happen • How? • Errors in __ (mistake in base pairing) • Errors in __

  17. 11.3 Section Summary 6.3 – pages 296 - 301 Causes of Mutations • 2) __: Any agent that can cause a change in the __ (mutation) • These are environmental factors such as: • a) __: such as X rays cosmic rays, ultraviolet light, and nuclear radiation. • The energy they contain can damage or break apart __.

  18. 11.3 Section Summary 6.3 – pages 296 - 301 Causes of Mutations • b) __ mutagens: include dioxins, asbestos, benzene, and formaldehyde. • Usually cause substitution mutations • c) __ *__- Procedure used to identify mutagenic substances.

  19. 11.3 Section Summary 6.3 – pages 296 - 301 Repairing DNA • __ proofread the DNA and replace incorrect nucleotides with correct nucleotides. • However, the __ the exposure to a mutagen such as UV light, the __ likely is the chance that a mistake will not be corrected.

  20. Section 12.1 Summary – pages 309 - 314 Pedigrees illustrate inheritance • Pedigree: a graphic representation of __ inheritance. • Like a __. • It is a diagram made up of a set of __ that identifies individuals affected by the trait being studied, and family relationships.

  21. Section 12.1 Summary – pages 309 - 314 Male Parents Female Siblings Pedigreesillustrateinheritance Affected male Affected female Known heterozygotes for recessive allele Mating Death

  22. Section 12.1 Summary – pages 309 - 314 Pedigrees illustrate inheritance Female Male I 1 2 II 2 1 4 5 3 • In a pedigree, a __ represents a female; a __ represents a male. III 1 4 2 3 ? IV 5 3 4 2 1

  23. Section 12.1 Summary – pages 309 - 314 Pedigrees illustrate inheritance I 1 2 II 3 2 1 4 5 • Highlighted circles and squares represent individuals showing the trait being studied. III 1 4 2 3 ? IV 2 3 5 1 4

  24. Section 12.1 Summary – pages 309 - 314 Pedigrees illustrate inheritance I 1 2 II 1 2 4 3 5 • Circles and squares that are not highlighted designate individuals that do not show the trait. III 2 4 1 3 ? IV 3 4 5 1 2

  25. Section 12.1 Summary – pages 309 - 314 Pedigrees illustrate inheritance • A half-shaded circle or square represents a __: a heterozygous individual.

  26. Section 12.1 Summary – pages 309 - 314 Pedigrees illustrate inheritance • A horizontal line connecting a circle and a square indicates that the individuals are parents (__ line), and a vertical line connects parents with their offspring (__ line). I 1 2 II 4 2 3 1 5 III 1 4 2 3 ? IV 2 3 5 1 4

  27. Section 12.1 Summary – pages 309 - 314 Pedigrees illustrate inheritance • Each horizontal row of circles and squares in a pedigree designates a __, with the most recent generation shown at the bottom. I 1 2 II 3 1 2 4 5 III 1 2 4 3 ? IV 3 5 1 2 4

  28. Section 12.1 Summary – pages 309 - 314 Pedigrees illustrate inheritance • The generations are identified in sequence by __, and each individual is given an Arabic number. I 1 2 II 3 1 2 4 5 III 1 2 4 3 ? IV 3 5 1 2 4

  29. 11.3 Section Summary 6.3 – pages 296 - 301 Detecting Genetic Disorders • 1) __: an examination of a persons genetic makeup. • This may involve: • A) Blood test - looks for the presence or absence of certain __

  30. Detecting Genetic Disorders 11.3 Section Summary 6.3 – pages 296 - 301 • B) Karyotype- __. • Procedure: remove __ from a cell • stain and photograph chromosomes • cut out each chromosome • match it with its __

  31. 11.3 Section Summary 6.3 – pages 296 - 301 Detecting Genetic Disorders: In a fetus • 1) __- uses high-frequency sound waves to produce an image of a fetus on a moniter • image is called a __ • 2) Amniocentesis- __. • Use a needle and syringe to remove some amniotic fluid. • Make a __ and analyze.

  32. 11.3 Section Summary 6.3 – pages 296 - 301 Detecting Genetic Disorders: In a fetus • 3) Chorion villi sampling- analyze a sample of the chorion villi (tissue that grows between the __.) • villi has the same __as the fetus. • 4) __- a visual procedure for observing disorders in the fetus. • Uses an instrument called an __ • can: observe fetus’ development, take skin and blood samples for analysis, do blood transfusions, and remove excess fluid from the brian.

  33. Section 12.1 Summary – pages 309 - 314 Simple Recessive Heredity • Most genetic disorders are caused by __ alleles. 1) Cystic fibrosis • Due to a defective __ in the cell membrane. • Results in the formation and accumulation of thick __ in the lungs and digestive tract. • Common among __. (1 in 28 carries the allele, 1 in 2500 inherits the disorder) • Average lifespan: __ yrs.

  34. Section 12.1 Summary – pages 309 - 314 2) Tay-Sachs disease • Tay-Sachs (tay saks): a recessive disorder of the __. • Results in the absence of an __ that normally breaks down a __ produced and stored in tissues of the central nervous system. • Therefore, lipids accumulate in the cells.

  35. Section 12.1 Summary – pages 309 - 314 I 1 2 Typical Pedigree for II 1 2 4 3 Tay-Sachs III 3 1 2 IV 1

  36. Section 12.1 Summary – pages 309 - 314 3) Phenylketonuria • Phenylketonuria (fen ul kee tun YOO ree uh): (PKU) the absence of an __ that converts one amino acid, phenylalanine, to a different amino acid, tyrosine. • Phenylalanine and its by-products accumulate in the body resulting in severe damage to the __. • A PKU test is normally performed on all __ a few days after birth. • Infants affected by PKU are given a diet that is low in __ until their __ are fully developed.

  37. Section 12.1 Summary – pages 309 - 314 Phenylketonuria • New Problem: If a female who is homozygous recessive for PKU becomes __, the high phenylalanine levels in her blood can damage her __ - the developing baby. • This problem occurs even if the fetus is __ and would be phenotypically normal.

  38. Section 12.1 Summary – pages 309 - 314 Phenylketonuria Phenylketonurics: Contains Phenylalanine

  39. Section 12.1 Summary – pages 309 - 314 Simple Dominant Heredity • A single dominant allele inherited from __ parent is all that is needed for a person to show the dominant trait.

  40. Section 12.1 Summary – pages 309 - 314 Simple dominant traits: • 1) __ • 2) widow’s __ • 3) hitchhiker’s thumb • 4) almond shaped __ • 5) thick lips • 6) presence of __ on the middle section of you fingers

  41. Section 12.1 Summary – pages 309 - 314 Huntington’s disease • A __ genetic disorder • Caused by a rare __ allele. • Results in a breakdown of certain areas of the __. • Symptoms: __ and irritability, eventually lose of __ control, uncontrollable physical __, severe mental illness, and eventually __.

  42. Section 12.1 Summary – pages 309 - 314 Huntington’s disease • Usually occurs between the ages of __ • An individual may already have had children before knowing whether he or she is affected. • __: a short section of __ that indicates the presence of an allele that codes for a trait. • __of people with this marker have a chance of developing HD • can test before they have __.

  43. Section 12.1 Summary – pages 309 - 314 Typical Pedigree of Huntington’s Disease I 2 1 II 1 2 3 4 5 III 1 2 3 4 5

  44. Section 1 Check Question 1 What does this pedigree tell you about those who show the recessive phenotype for the disease? I 1 2 II 1 2 4 3 III 3 1 2 IV 1

  45. Section 1 Check I The pedigree indicates that showing the recessive phenotype for the disease is __. 1 2 II 1 2 4 3 III 3 1 2 IV 1

  46. Section 12.2 Summary – pages 315 - 322 Genetic Patterns • Thomas Hunt __ (early 1900’s) • Began a series of breeding experiments with Drosophila melanogaster (__) Why use fruit flies? • Easy to maintain in a laboratory • have a generation time of only __ days • produce __ of offspring from each mating • have easily distinguishable __ characteristics • have only __ chromosomes

  47. Section 12.2 Summary – pages 315 - 322 Genetic Patterns • He discovered that __ pair of chromosomes were different in males and females. • In females: all pairs were __ • In males: the __ pair was different • He called the large chromosome in the 4th pair the “__” chromosome and he called the short hooked one the “__” chromosome. • The same applies to __. • Other organisms differ

  48. Section 12.2 Summary – pages 315 - 322 Sex determination • In humans the __ number of chromosomes is 46, or 23 pairs. • __ chromosomes: Chromosomes that determine an individual’s sex. They are the __ pair in humans and they differ in males and females. • __: A chromosome that is not a sex chromosome. There are __ pairs of homologous autosomes in humans. They all look alike.

  49. Section 12.2 Summary – pages 315 - 322 Sex determination • If you are __, your 23rd pair of chromosomes are homologous, __. X X Female • If you are __, your 23rd pair of chromosomes __, look different. X Y Male

  50. Section 12.2 Summary – pages 315 - 322 Sex determination • Males: Produce two kinds of __, X and Y. • Females: Produce only __ gametes. • It is the __ gamete that determines the sex of the offspring.

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