2. Inheritance of genetic traits Chapter 12

3. Making a Pedigree A pedigree is a graphic representation of genetic inheritance It is a diagram made up of a set of symbols that identify males and females, individuals affected by the trait being studied, and family relationships

4. Male Female Affected male Affected female Mating Parents Siblings Known heterozygotes for recessive allele Death A half-shaded circle or square represents a carrier, a heterozygous individual.

5. In a pedigree, a circle represents a female; a square represents a male. A horizontal line connecting a circle and a square indicates that the individuals are parents, and a vertical line connects parents with their offspring. Each row shows a generation with most recent at the bottom I Female 1 2 Male II III IV 1 1 1 2 3 45 23 4 2 34 5

7. Simple Recessive Heredity Most genetic disorders are caused by recessive alleles

8. 1. Cystic Fibrosis Cystic fibrosis (CF) is a fairly common genetic disorder among white Americans About 1 in 28 white Americans carries the recessive allele, & 1 in 2500 children born to white Americans inherits the disorder. Due to a defective protein in the plasma membrane, cystic fibrosis results in the formation and accumulation of thick mucus in the lungs and digestive tract

9. 2. Tay Sachs Disease Tay-Sachs (tay saks) disease is a recessive disorder of the central nervous system among the Jewish people in the U.S. & eastern European descent A recessive allele results in the absence of an enzyme that normally breaks down a lipid produced and stored in tissues of the central nervous system Because this lipid fails to break down properly, it accumulates in the cells

10. I II III IV 1 2 1 1 1 3 2 2 4 3 Typical pedigree for Tay-Sachs Symptoms are not usually visual until around 48 months. Child gradually becomes blind and helpless, develops seizures & eventually paralyzed. The child dies by the age of 3 or 4 No treatment or cure. Can be detected by amniocenteses

11. 3. PKU Phenylketonuria (fen ul kee tun YOO ree uh), also called (PKU), is a recessive disorder that results from the absence of an enzyme that converts one amino acid, phenylalanine, to a different amino acid, tyrosine. Because phenylalanine cannot be broken down, it and its by-products accumulate in the body and result in severe damage to the central nervous system

12. Phenylketonuria A PKU test is normally performed on all infants a few days after birth Infants affected by PKU are given a diet that is low in phenylalanine until their brains are fully developed Phenylketonurics: Contains Phenylalanine

13. Simple Dominant Many traits are inherited just as the rule of dominance predicts Remember that in Mendelian inheritance, a single dominant allele inherited from one parent is all that is needed for a person to show the dominant trait

15. Some examples of Simple Dominance A cleft chin Widow’s peak hairline Hitchhiker’s thumb Almond shaped eyes Thick lips Presence of hair on the middle section of your fingers

16. Huntington’s Disease Huntington’s disease is a lethal genetic disorder caused by a rare dominant allele It results in a breakdown of certain areas of the brain Usually, dominant allele with such severe effects would result in death before the affected individual could have children and pass the allele on to the next generation But because the onset of Huntington’s disease usually occurs between the ages of 30 and 50, an individual may already have had children before knowing whether he or she is affected.

17. I 1 II III 2 1 1 3 2 24 345 5 Typical Pedigree of Huntington’s Disease Huntington’s Disease leads to progressive degeneration of brain cells, which causes muscle spasms, personality disorders & death in 10-15 years from onset

18. When inheritance follows different rules Section 2

19. Incomplete Dominance When traits are inherited in an incomplete dominance pattern, the presence of a 3 rd phenotype appears. For example, if a homozygous red-flowered snapdragon plant (RR) is crossed with a homozygous white-flowered snapdragon plant (R′ R′), all of the F 1 offspring will have pink flowers

20. RedWhite All pink Red (RR) White (R’R’) Pink (RR’) All pink flowers1 red: 2 pink: 1 white Appearance of a 3 rd Phenotype

21. Why a 3 rd Phenotype? The new phenotype occurs because the flowers contain enzymes that control pigment production The R allele codes for an enzyme that produces a red pigment. The R’ allele codes for a defective enzyme that makes no pigment. Because the heterozygote has only one copy of the R allele, its flowers appear pink because they produce only half the amount of red pigment that red homozygote flowers produce.

22. Codominance: expression of both alleles Codominant alleles cause the phenotypes of both homozygotes to be produced in heterozygous individuals. In codominance, both alleles are expressed equally

23. Sickle Cell Anemia In an individual who is homozygous for the sickle-cell allele, the oxygen-carrying protein hemoglobin differs by one amino acid from normal hemoglobin This defective hemoglobin forms crystal-like structures that change the shape of the red blood cells. Normal red blood cells are disc-shaped, but abnormal red blood cells are shaped like a sickle, or half-moon

24. Hb A Hb A individuals are normal; Hb S Hb S have sickle-cell trait. With sickle-cell disease, red blood cells are irregular in shape (sickle-shaped) rather than biconcave, due to abnormal hemoglobin that the cells contain. Symptoms results in poor circulation, anemia, low resistance to infection, hemorrhaging, damage to organs, jaundice, and pain of abdomen and joints. Bone marrow transplants pose high risks; other research focuses on fetal hemoglobin, etc

25. Sickle-cell anemia Abnormally shaped blood cells, slow blood flow, block small vessels, and result in tissue damage and pain. Normal red blood cell Sickle cell

27. Multiple Alleles: Although each trait has only two alleles in the patterns of heredity you have studied thus far, it is common for more than two alleles to control a trait in a population Traits controlled by more than two alleles have multiple alleles

28. Multiple alleles: govern blood type Mendel’s laws of heredity also can be applied to traits that have more than two alleles. The ABO blood group is a classic example of a single gene that has multiple alleles in humans. Determining blood type is necessary before a person can receive a blood transfusion because the red blood cells of incompatible blood types could clump together, causing death

29. Multiple Alleles Govern Blood Type Human Blood Types Genotypes l A l A or l A li l B l B or l B i lA lBlA lB ii Surface Molecules A B A and B None Phenotypes A B AB O

30. The ABO Blood Group The gene for blood type, gene l, codes for a molecule that attaches to a membrane protein found on the surface of red blood cells. The l A and l B alleles each code for a different molecule. Your immune system recognizes the red blood cells as belonging to you. If cells with a different surface molecule enter your body, your immune system will attack them.

31. Phenotype A The l A allele is dominant to i, so inheriting either the l A i alleles or the l A l A alleles from both parents will give you type A blood. Surface molecule A is produced. Surface molecule A

32. Phenotype B The l B allele is also dominant to i. To have type B blood, you must inherit the l B allele from one parent and either another l B allele or the i allele from the other. Surface molecule B is produced. Surface molecule B

33. Phenotype AB Surface molecule B Surface molecule A The l A and l B alleles are codominant. This means that if you inherit the l A allele from one parent and the l B allele from the other, your red blood cells will produce both surface molecules and you will have type AB blood.

34. Phenotype O The i allele is recessive and produces no surface molecules. Therefore, if you are homozygous ii, your blood cells have no surface molecules and you have blood type O.

35. Homework: Click below to play the blood typing game http://nobelprize.org/educational_games/medicine/l andsteiner/index.html

36. Sex Determination In humans the diploid number of chromosomes is 46, or 23 pairs There are 22 pairs of homologous chromosomes called autosomes. Homologous autosomes look alike. The 23 rd pair of chromosomes differs in males and females and are known as the sex chromosomes and are indicated by the letters with X and Y

37. Sex Determination If you are female, your 23 rd pair of chromosomes are homologous, XX. XY Male X X Female If you are male, your 23 rd pair of chromosomes XY, look different.

38. Sex Determination XY XY Male XX Female X X XY Male XX Female XY Male

39. Sex Linked Inheritance Traits controlled by genes located on sex chromosomes are called sex-linked traits The alleles for sex-linked traits are written as superscripts of the X or Y chromosomes Because the X and Y chromosomes are not homologous, the Y chromosome has no corresponding allele to one on the X chromosome and no superscript is used

40. Females: Males: 1/2 red eyed 1/2 white eyed all red eyed White-eyed male (X r Y) Red- eyed female (X R X R ) F 1 All red eyed F2F2 Dystrophy sex linked cross

42. Sex-Linked Inheritance The pattern of sex-linked inheritance is explained by the fact that males, who are XY, pass an X chromosome to each daughter and a Y chromosome to each son Two traits that are governed by X-linked recessive inheritance in humans are 1. red-green color blindness 2. Hemophilia 3. Muscular Distrophy

43. Red-Green Color Blindness People who have red-green color blindness can’t differentiate these two colors. Color blindness is caused by the inheritance of a recessive allele at either of two gene sites on the X chromosome.

44. Hemophilia Hemophilia A is an X-linked disorder that causes a problem with blood clotting. About one male in every 10 000 has hemophilia, but only about one in 100 million females inherits the same disorder Males inherit the allele on the X chromosome from their carrier mothers. One recessive allele for hemophilia will cause the disorder in males Females would need two recessive alleles to inherit hemophilia

46. Skin Color: polygenic inheritance In the early 1900s, the idea that polygenic inheritance occurs in humans was first tested using data collected on skin color. Scientists found that when light-skinned people mate with dark-skinned people, their offspring have intermediate skin colors

47. Skin color: A polygenic trait Number of Genes Involved in Skin Color Number of individuals Observed distribution of skin color Expected distribution- 1 gene Expected distribution- 4 genes Expected distribution- 3 genes Right Range of skin color Light This graph shows the expected distribution of human skin color if controlled by one, three, or four genes.

48. Polygenic Inheritance Polygenic inheritance occurs when 1 trait is governed by 2 or more sets of alleles A hybrid cross for skin color provides a range of intermediates Includes cleft lip, clubfoot, hypertension, diabetes, schizophrenia, allergies & cancers Behavioral traits include suicide, phobias, alcoholism, and maybe homosexuality (not predetermined

49. Karyotype This chart of chromosome pairs is called a karyotype, and it is valuable in identifying unusual chromosome numbers in cells

50. Try this interactive Karyotype http://learn.genetics.utah.edu/units/disorder s/karyotype/flash/karyotype_try_it.swf

51. Downs Syndrome 21: Trisomy 21 Down syndrome is the only autosomal trisomy in which affected individuals survive to adulthood It occurs in about one in 700 live births Down syndrome is a group of symptoms that results from trisomy of chromosome 21 Some degree of mental retardation

52. Turners Syndrome Turner (XO) syndrome females have only one sex chromosome, an X. Turner females are short, have a broad chest and webbed neck. Ovaries of Turner females never become functional; therefore, do not undergo puberty

53. Klinefelter Syndrome Klinefelter syndrome males have one Y chromosome and two or more X chromosomes. Affected individuals are sterile males; testes and prostate are underdeveloped. Individuals have large hands and feet and long arms and legs.

54. Triplo-X Females Triplo-X females have three or more X chromosomes. There is no increased femininity; most lack any physical abnormalities. There is an increased risk of having triplo-X daughters or XXY sons. May experience menstrual irregularities, including early onset of menopause.

55. Jacob Syndrome XYY males with Jacob syndrome have two Y chromosomes instead of one. Results from nondisjunction during meiosis II. Usually taller than average; suffer from persistent acne; tend to have lower intelligence. Earlier claims that XYY individuals were likely to be aggressive are not correct