Two copies of each autosomal gene affect phenotype (physical) .

1. 7.1 Chromosomes and Phenotype Two copies of each autosomal gene affect phenotype (physical). • Mendel studied autosomal gene traits, like hair texture. Autosome – chromosome with genes not related to sex of organism (body cells) Dwarfism and Longevity

2. KEYSTONE ANCHOR BIO.B.2.1.1 Describe and/or predict observed patterns of inheritance (i.e., dominant, recessive, co-dominance, incomplete dominance, sex-linked, polygenic, and multiple alleles).

3. VOCABULARY • Amniocentesis • Incomplete dominance • Co-dominance • Carrier • Polygenic • Epistatic • Autosomes • Pedigree • Karyotype

4. X Y Gene Linkage and Mapping Several methods help map human chromosomes. • Karyotype - a picture of all chromosomes in a cell.

5. Gene Linkage and Mapping • Karyotypes can show changes in chromosomes. • deletion of part of a chromosome or loss of a chromosome • large changes in chromosomes • extra chromosomes or duplication of part of a chromosome

6. Karyotype The arrangement of all the chromosomes found in a cell. Includes: Autosomes: chromosome pairs 1-22 Sex Chromosomes: chromosome pair 23 Female = X X Male = X Y 23rd pair Female sex chromosomes X X

7. What information can you determine from a karyotype. Use the terms autosomes and sex chromosomes. Process Box 1:

8. Amniocentesis A medical technique used to collect the chromosomes of a developing fetus. It is done by inserting a needle into the womb and gathering cells in the amniotic fluid.

9. FEMALE MALE “Autosomes” Sex Chromosomes (they determine male or female)

10. 7.1 Chromosomes and Phenotype Who determines the sex of the offspring? Father – he can provide an X or Y chromosome Egg X X X XX XX X X Body Cell X XY Y Y Sperm Body Cell 1female:1male We were all female

11. 7.1 Chromosomes and Phenotype • Genes on sex chromosomes are called sex-linked genes. • Y chromosome - male characteristics . • X chromosome - genes affects many traits. . Males can pass on X or Y Females only pass on X East German Olympic team

12. King Henry VIII is known for being ‘angry’ with his wives and blamed them for not producing a son. Explain why King Henry VIII should have found fault with himself. Process Box 2:

13. 7.1 Chromosomes and Phenotype • Males have an XY genotype. • All of a male’s sex-linked genes are expressed. • Males have no second copies of sex-linked genes • Y chromosome is much smaller

14. Gene Linkage and Mapping Females can carry sex-linked genetic disorders. • Males (XY) express all of their sex linked genes. • Expression of the disorder depends on which parent carries the allele and the sex of the child. X chromosome carries about 1100 genes while the Y carries about 250

15. Sex-linked disorder: Color Blindness • 1. Genetic disorder found on the sex chromosome X • Known as a “sex-linked” because its found on chromosome 23 • Normal Color Vision (N) = Dominant • Colorblindness (n) = Recessive • Can’t distinguish between colors • More boys, than girls, are color blind…..WHY?

16. Complex Patterns of Inheritance • Color blindness is a problem in which red or green look like shades of gray or other colors. • The gene is carried on the X chromosome and is a recessive trait. Jets vs Bills XN Xn XN XNXN = normal female XNXn = female, normal vision (carrier) XNY = normal vision male XnY = color blind male Y

17. Sex-linked disorder: Color Blindness XN XN Color blind Dad and Normal mother produces…. Two normal sons Xn XN Xn XN Xn 2 “carrier” daughters (NOT color blind) Y XN Y XN Y XN Xn Normal Dad and Carrier mother produces…. XN XN XN XN Xn 1 color blind son, 1 normal son 1 “carrier” daughter, 1 normal daughter Y XN Y Xn Y What is the only way to get a color-blind daughter??

18. Sex-linked disorder: Hemophila • 1. Recessive genetic disorder found on the sex chromosome X • Disease in which blood doesn’t clot properly. • Normal Blood Clotting (N) = Dominant • Hemophilia (n) = Recessive Royal family pedigree Rasputin

20. Sex-linked disorder: Hemophila XH XH Affected dad and Normal Mother produces…. Two normal sons Xh XH Xh XH Xh 2 “carrier” daughters Y XH Y XH Y XH Xh Normal Father and Carrier Mother produces…. XH XH XH XH Xh 1 color blind son, 1 normal son 1 “carrier” daughter, 1 normal daughter Y XH Y Xh Y What cross will ALWAYS yield you 100% affected sons?

21. 7.1 Chromosomes and Phenotype • Carrier – has an allele for as trait or disease that is not expressed. • Carrier does not have disease symptoms but can pass it on to offspring. ___ SEX LINKED CARRIER AUTOSOMAL CARRIER ___ ___ __ __ ___ ___ __ __ TOP PARENT: A CARRIER SIDE PARENT: AFFECTED MOM: A CARRIER DAD: AFFECTED

22. DOMINANT DISORDERS -Dominant allele disorders are rare. -They affect TWO genotypes -Pure Dominant -Heterozygous Huntington’s disease is an example of a disease caused by a dominant allele. (Danny with Huntington’s Disease)

23. Process Box 3: What does it mean to have a sex-linked trait?Why do men have a greater chance of being ‘affected’ with certain sex-linked traits/disorders?

24. Process Box 4: Is this a “sex-linked” trait or an “autosomal trait” if the gene is found on … a. Chromosome 12 and the gene is dominant? b. Chromosome 23 and the gene is dominant? c. On the X chromosome and it is dominant? d. On the X chromosome and it is recessive?

25. Do Now • In a family, the father does Not have hemophilia and the mother is a carrier. What is the chance that they will have a child with hemophilia? XN Xn 1XNXN : 1XNXn : 1XNy : 1Xny 1 normal female 1 normal ‘carrier’ female 1 normal male 1 hemophiliac male XN y XNXN XNXn Xny XNy 25% chance of having a child effected with hemophilia The child WILL ALWAYS BE A MALE!!!! 50/50 chance for a male child to have hemophilia

26. Complex Patterns of Inheritance • Some traits are neither totally dominant nor totally recessive. • Incomplete dominance - when neither gene is totally dominant to the other - Heterozygous phenotype is intermediate between the two homozygous phenotypes • Example: White flowers and red flowers produce pink flowers

27. Incomplete Dominance X Straight Curly . There is a third color that exists in the heterozygous type. It’s a mixture between the two homozygous types. Pink

28. Incomplete Dominance Incomplete Dominance

29. Incomplete Dominance Incomplete dominance

30. Complex Patterns of Inheritance • Codominant - alleles will both be completely expressed. Example – red and white flower produce a flower with BOTH colors • Codominant alleles are neither dominant nor recessive. • The ABO blood types result from codominant alleles. • Many genes have more than two alleles.

31. Heterozygous type shows BOTH phenotypes exist TOGETHER Co-dominance

32. Co-dominance

33. Co-dominance Co-dominance

34. Describe the difference between co-dominance and incomplete dominance. Write/or draw an example of co-dominance and incomplete dominance.Incomplete: INBETWEEN BLENDCodominant: COEXIST Process Box 5: By the results, determine if the traits code for: complete dominance, incomplete dominance, or codominance: Brown x White = Brown ___________________ Tall x Short = Medium___________________ Blood A x Blood B = AB ___________________

35. Sickle Cell Anemia • Disease in which the body makes sickle-shaped red blood cells. Sickle-shaped cells don’t move easily through your blood vessels. They’re stiff and sticky and tend to form clumps and get stuck in the blood vessels . • The disorder is found on chromosome 11 and is therefore not sex-linked. • The Oxygen carrying hemoglobin can not carry oxygen as efficiently and the odd-shaped cells can easily clot and break. Fatigue, pain, and organ failure due to lack of oxygen supply are common symptoms of sickle cell anemia. • It is common in the African community Actual blood cells

36. Sickle Cell Anemia Codominance Practice • Genes for blood cells: • R = Round blood cells • R’ = Sickle Cells R’ R Genotypes for blood cells RR = normal blood RR’ = some sickle cells, some normal cells R’R’ = has sickle cell anemia R R’ Tebow touchdown

37. Complete the following crosses, Report the genotypes and phenotypes of the offspring R = round blood cell R’ = sickle shape RR: Round cells RR’ = sickle cell trait R’R’: sickle cell anemia Round Blood Cells x Hybrid Mixed Cells x Hybrid ---------- x ---------- ---------- x ---------- EXPECTED RESULTS -------------------------- -------------------------- -------------------------- EXPECTED RESULTS -------------------------- -------------------------- -------------------------- R’ R R R R’ R R’ R R’ R’ R’ R’ R R’ 1 sickle cell anemia 2 mixed cells 1 normal cells 2 mixed cells 2 normal cells R R R R R R R R R’ R All Round Cells x All Sickle Cells Sickle Cell Anemia x Pure Round EXPECTED RESULTS -------------------------- -------------------------- -------------------------- ---------- x ---------- EXPECTED RESULTS -------------------------- -------------------------- -------------------------- ---------- x ---------- R’ R’ R’ R’ 4 mixed cells 4 mixed cells R R’ R R’ R R’ R R’ R R R R’ R R’ R R’ R R’ R R

38. WRITTEN CONCLUSION • INTRO • VARIABLE • DATA • ANALYSIS • EXTENSION

39. How many alleles for blood are there? How many blood types are there? 1. Blood Type • there are _________________________ 4 different blood types 3 4 What type of inheritance pattern does blood type show?

40. Hypothesis: • What crosses will produce sickle cell trait versus sickle cell anemia

41. Which blood types are compatible for transfusion?? Yes or No ? O B Yes No B A Yes A A B No AB A Yes O AB

42. CoDominance: Expected Blood Types IA IA IA i 1-AB blood 1-hetero A blood 1-hetero B blood 1-pure O blood ___________ IB IAIB IAIB IB IAIB IBi 4 type AB blood ___________ ___________ ___________ ___________ ___________ IAi i ii IB IAIB IAIB IA IB IA IB i IAi IAIA IAIB IBi IA 1-pure A blood 2-AB blood 1-pure B blood 2-hetero A blood 2-heteroB blood ___________ ___________ ___________ ___________ i IAi IBi IAIB IB IBIB IA i i i IAIA IAi IAi IAi IA IA ___________ ___________ ___________ ___________ 2-hetero A blood 2- O blood 2-hetero A blood 1- O blood IAi i ii i ii ii

43. CoDominance: Expected Blood Types IA IA IA i IB IAIB IAIB IB ___________ 4 type AB blood ___________ ___________ ___________ ___________ ___________ i IB IAIB IAIB An AB mother with an O father IA IB IA IB IAi IA IBi i ___________ ___________ ___________ ___________ 2-hetero A blood 2-heteroB blood IAi IBi IB i Two heterozygous type A’s crossed A mother with type O crossed with a father with heterozygous type A IA i i i IAIA IAi ___________ ___________ ___________ ___________ IA IAi IAi IA 2-hetero A blood 2- O blood 2-hetero A blood 1- O blood IAi ii i i ii ii

44. Blood type statistics… • If there are 100 people in the room:39 will be O+7 will be O-34 will be A+6 will be A-9 will be B+2 will be B-3 will be AB+and only 1 in 200 will be AB- Note: The + and – is the presence (or absence) of a third antigen (Rh).

45. Order of dominance: brown > green > blue. Complex Patterns of Inheritance • Polygenic traits are produced by two or more genes.

46. Complex Patterns of Inheritance • Epistatic gene - can interfere with the expression of all other genes. Mice have 5 genes that control fur color. 2 genes for general color 1 for shading 1 for spots 1 epistatic gene for color that overrrules all other genes

47. Complex Patterns of Inheritance • Phenotype is a combination of genotype and environment. • The sex of sea turtles depends on both genes and the environment. Warm eggs develop into females • Height is an example of a phenotype strongly affected by the environmental factors such as early nutrition and health care.

48. Using the words below, make two list that you would associate with the following types of genes: Epistatic Polygenic ManySeveralMultipleVarious Over-ride DominantRange One Albinism InteractionControlRuleBoss Eye color Process Box 6:

49. Gene Linkage and Mapping • Linked genes are not inherited together every time. • Chromosomes exchange homologous genes during meiosis.

50. Crossing over – 7:00