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pedigreeANALYSIS<br /> EXERCISE<br />Biology 3 Kawashima<br />
General Notes<br />Each set of slides will show a specific inheritance pattern<br />The pedigrees are independent for ever...
START<br /> EXERCISE<br />Biology 3 Kawashima<br />
AutosomalDominant<br />1<br />2<br />AA<br />aa<br />4<br />5<br />3<br />6<br />7<br />8<br />
AutosomalDominant<br />Presence of even one dominant allele A gives the phenotype<br />F1 only has one possible genotype A...
AutosomalDominant<br />Crossing 5 and 6 may give either Aa|aa, but as 7 is affected, it must be Aa<br />NOT sex-limited be...
AutosomalDominant<br />NOT X-linked dominant nor recessive, if so 7 should also express the phenotype<br />NOT Y-linked as...
AutosomalRecessive<br />1<br />2<br />aa<br />AA<br />4<br />5<br />3<br />6<br />7<br />8<br />
AutosomalRecessive<br />Presence of two alleles aa gives the phenotype<br />Presence of only one allele a will not exhibit...
AutosomalRecessive<br />Crossing 5 and 6 may give AA|Aa|aa, but as 7 is affected, it must be only aa<br />NOT sex-limited ...
AutosomalRecessive<br />NOT X-linked dominant nor recessive, if so 5 (which is a carrier) crossed with 6, it is not possib...
AutosomalDominantSex-Limited<br />1<br />2<br />AA<br />aa<br />4<br />5<br />3<br />6<br />7<br />8<br />9<br />10<br />
AutosomalDominantSex-Limited<br />Phenotype is male-limited<br />Presence of even one dominant allele A in males gives the...
AutosomalDominantSex-Limited<br />Crossing 5 and 6 may give either Aa|aa, but as 8 is affected, it must be Aa<br />Phenoty...
AutosomalDominantSex-Limited<br />NOT simple dominance| recessiveness because females do not express the phenotype at all<...
AutosomalDominantSex-Limited<br />NOT X-linked dominant|recessive because it is not observed in females. <br />NOT Y-linke...
AutosomalRecessiveSex-Limited<br />1<br />2<br />aa<br />AA<br />4<br />5<br />3<br />6<br />7<br />8<br />9<br />10<br />
AutosomalRecessiveSex-Limited<br />Phenotype is male-limited<br />Presence of both alleles aa in males gives the phenotype...
AutosomalRecessiveSex-Limited<br />Crossing 3 and 4 may give either Aa|aa, but either way 7 is unaffected because it is ma...
AutosomalRecessiveSex-Limited<br />NOT simple dominance| recessiveness because females do not express the phenotype at all...
AutosomalRecessiveSex-Limited<br />NOT X-linked dominant|recessive because it is not observed in females. <br />NOT Y-link...
AutosomalSex-Influenced<br />1<br />2<br />AA<br />aa<br />4<br />5<br />3<br />6<br />7<br />8<br />9<br />10<br />
AutosomalSex-Influenced<br />Phenotype expression changes between males and females.<br />For this example, trait is domin...
AutosomalSex-Influenced<br />Heterozygote males and females express different phenotypes (see 4 and 5)<br />Crossing 3 and...
AutosomalSex-Influenced<br />Since10 is an affected male, he can only be Aa<br />NOT simple dominance| recessiveness becau...
AutosomalSex-Influenced<br />NOT likely to be X-linked dominant nor recessive<br />NOT Y-linked as it is also observed in ...
X-Dominant Sex-Linked<br />1<br />2<br />XAY<br />XX<br />4<br />5<br />3<br />6<br />7<br />8<br />9<br />10<br />
X-Dominant Sex-Linked<br />Alleles are found on the X chromosome<br />Males with an XA chromosome always expresses the phe...
X-Dominant Sex-Linked<br />The X chromosome of males always come from their mother<br />A male with a heterozygous affecte...
X-Dominant Sex-Linked<br />A female with an affected father will always show the phenotype<br />NOT simple dominance| rece...
X-Dominant Sex-Linked<br />NOT sex-influenced. If pattern is dominant in males, recessive in females (or other way around)...
X-Recessive Sex-Linked<br />1<br />2<br />XaY<br />XX<br />4<br />5<br />3<br />6<br />7<br />8<br />9<br />10<br />
X-Recessive Sex-Linked<br />Alleles are found on the X chromosome<br />Males with an XA chromosome always expresses the ph...
X-Recessive Sex-Linked<br />The X chromosome of males always come from their mother<br />A male with an affected mother wi...
X-Recessive Sex-Linked<br />NOT simple dominance| recessiveness if parents are homozygotes. If this is not given/assumed i...
Y Sex-Linked<br />1<br />2<br />XY*<br />XX<br />4<br />5<br />3<br />6<br />8<br />9<br />10<br />8<br />
Y Sex-Linked<br />Allele is found on the Y chromosome<br />Only males have a Y chromosome  and are the only ones with a ch...
Y Sex-Linked<br />NOT sex-limited because all males with an affected father will always express the trait.<br />NOT sex-in...
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Lec14 Pedigree Analysis Exercise

  1. 1. pedigreeANALYSIS<br /> EXERCISE<br />Biology 3 Kawashima<br />
  2. 2. General Notes<br />Each set of slides will show a specific inheritance pattern<br />The pedigrees are independent for every new inheritance pattern.<br />The first slide of each set will show parental genotypes. Try to figure out the genotypes of the succeeding generations<br />Answers and explanations are revealed in succeeding slide. NOTE: Answers revealed may not be the only set of correct answers.<br />
  3. 3. START<br /> EXERCISE<br />Biology 3 Kawashima<br />
  4. 4. AutosomalDominant<br />1<br />2<br />AA<br />aa<br />4<br />5<br />3<br />6<br />7<br />8<br />
  5. 5. AutosomalDominant<br />Presence of even one dominant allele A gives the phenotype<br />F1 only has one possible genotype Aa<br />Crossing 3 and 4 may give either Aa|aa, but as 7 is unaffected, it must be aa<br />1<br />2<br />AA<br />aa<br />4<br />5<br />3<br />6<br />aa<br />Aa<br />Aa<br />aa<br />7<br />8<br />aa<br />Aa<br />
  6. 6. AutosomalDominant<br />Crossing 5 and 6 may give either Aa|aa, but as 7 is affected, it must be Aa<br />NOT sex-limited because it occurs in both sexes.<br />NOT sex-influenced because the heterozygous genotype is expressed in the same way by both sexes (see 4 and 5)<br />1<br />2<br />AA<br />aa<br />4<br />5<br />3<br />6<br />aa<br />Aa<br />Aa<br />aa<br />7<br />8<br />aa<br />Aa<br />
  7. 7. AutosomalDominant<br />NOT X-linked dominant nor recessive, if so 7 should also express the phenotype<br />NOT Y-linked as it is also observed in females<br />1<br />2<br />AA<br />aa<br />4<br />5<br />3<br />6<br />aa<br />Aa<br />Aa<br />aa<br />7<br />8<br />aa<br />Aa<br />
  8. 8. AutosomalRecessive<br />1<br />2<br />aa<br />AA<br />4<br />5<br />3<br />6<br />7<br />8<br />
  9. 9. AutosomalRecessive<br />Presence of two alleles aa gives the phenotype<br />Presence of only one allele a will not exhibit the phenotype<br />F1 only has one possible genotype Aa<br />Crossing 3 and 4 may give either Aa|aa, but as 7 is unaffected, it must be Aa<br />1<br />2<br />aa<br />AA<br />4<br />5<br />3<br />6<br />Aa<br />Aa<br />aa<br />Aa<br />7<br />8<br />Aa<br />aa<br />
  10. 10. AutosomalRecessive<br />Crossing 5 and 6 may give AA|Aa|aa, but as 7 is affected, it must be only aa<br />NOT sex-limited because it occurs in both sexes.<br />NOT sex-influenced because the heterozygous genotype is expressed in the same way by both sexes (see 4 and 5)<br />1<br />2<br />aa<br />AA<br />4<br />5<br />3<br />6<br />Aa<br />Aa<br />aa<br />Aa<br />7<br />8<br />Aa<br />aa<br />
  11. 11. AutosomalRecessive<br />NOT X-linked dominant nor recessive, if so 5 (which is a carrier) crossed with 6, it is not possible for 8 to express the phenotype<br />NOT Y-linked as it is also observed in females<br />1<br />2<br />aa<br />AA<br />4<br />5<br />3<br />6<br />Aa<br />Aa<br />aa<br />Aa<br />7<br />8<br />Aa<br />aa<br />
  12. 12. AutosomalDominantSex-Limited<br />1<br />2<br />AA<br />aa<br />4<br />5<br />3<br />6<br />7<br />8<br />9<br />10<br />
  13. 13. AutosomalDominantSex-Limited<br />Phenotype is male-limited<br />Presence of even one dominant allele A in males gives the phenotype<br />Females are not affected regardless of genotype<br />F1 only has 1 possible genotype Aa<br />Crossing 3 and 4 may give either Aa|aa, but either way 7 is unaffected because it is male-limited<br />1<br />2<br />AA<br />aa<br />4<br />5<br />3<br />6<br />Aa<br />Aa<br />AA<br />aa<br />7<br />8<br />9<br />10<br />AA<br />Aa<br />Aa<br />aa<br />
  14. 14. AutosomalDominantSex-Limited<br />Crossing 5 and 6 may give either Aa|aa, but as 8 is affected, it must be Aa<br />Phenotype of 9 does not matter because it is male-limited<br />Genotype of 10 is aa because it is an unaffected male<br />1<br />2<br />AA<br />aa<br />4<br />5<br />3<br />6<br />Aa<br />Aa<br />AA<br />aa<br />7<br />8<br />9<br />10<br />AA<br />Aa<br />Aa<br />aa<br />
  15. 15. AutosomalDominantSex-Limited<br />NOT simple dominance| recessiveness because females do not express the phenotype at all<br />NOT sex-influenced. Though genders show different phenotypes for the same genotype, one sex (females in this case) are unaffected whatever the genotype (see 7)<br />1<br />2<br />AA<br />aa<br />4<br />5<br />3<br />6<br />Aa<br />Aa<br />AA<br />aa<br />7<br />8<br />9<br />10<br />AA<br />Aa<br />Aa<br />aa<br />
  16. 16. AutosomalDominantSex-Limited<br />NOT X-linked dominant|recessive because it is not observed in females. <br />NOT Y-linked, if so 8 should not be affected as his father isn’t<br />1<br />2<br />AA<br />aa<br />4<br />5<br />3<br />6<br />Aa<br />Aa<br />AA<br />aa<br />7<br />8<br />9<br />10<br />AA<br />Aa<br />Aa<br />aa<br />
  17. 17. AutosomalRecessiveSex-Limited<br />1<br />2<br />aa<br />AA<br />4<br />5<br />3<br />6<br />7<br />8<br />9<br />10<br />
  18. 18. AutosomalRecessiveSex-Limited<br />Phenotype is male-limited<br />Presence of both alleles aa in males gives the phenotype<br />Presence of only one allele a will not exhibit the phenotype<br />Females are not affected regardless of genotype<br />F1 only has 1 possible genotype Aa<br />1<br />2<br />aa<br />AA<br />4<br />5<br />3<br />6<br />Aa<br />Aa<br />AA<br />Aa<br />7<br />8<br />9<br />10<br />AA<br />aa<br />Aa<br />aa<br />
  19. 19. AutosomalRecessiveSex-Limited<br />Crossing 3 and 4 may give either Aa|aa, but either way 7 is unaffected because it is male-limited<br />Crossing 5 and 6 may give AA|Aa|aa. Since 8 and 10 are affected, they are aa. 7 is unaffected regardless of genotype because it is male-limited<br />1<br />2<br />aa<br />AA<br />4<br />5<br />3<br />6<br />Aa<br />Aa<br />AA<br />Aa<br />7<br />8<br />9<br />10<br />AA<br />aa<br />Aa<br />aa<br />
  20. 20. AutosomalRecessiveSex-Limited<br />NOT simple dominance| recessiveness because females do not express the phenotype at all<br />NOT sex-influenced because the heterozygous genotype is expressed in the same way by both sexes (see 4 and 5)<br />1<br />2<br />aa<br />AA<br />4<br />5<br />3<br />6<br />Aa<br />Aa<br />AA<br />Aa<br />7<br />8<br />9<br />10<br />AA<br />aa<br />Aa<br />aa<br />
  21. 21. AutosomalRecessiveSex-Limited<br />NOT X-linked dominant|recessive because it is not observed in females. <br />NOT Y-linked, if so 4 should be affected<br />1<br />2<br />aa<br />AA<br />4<br />5<br />3<br />6<br />Aa<br />Aa<br />AA<br />Aa<br />7<br />8<br />9<br />10<br />AA<br />aa<br />Aa<br />aa<br />
  22. 22. AutosomalSex-Influenced<br />1<br />2<br />AA<br />aa<br />4<br />5<br />3<br />6<br />7<br />8<br />9<br />10<br />
  23. 23. AutosomalSex-Influenced<br />Phenotype expression changes between males and females.<br />For this example, trait is dominant in males while recessive in females.<br />In males, one allele A elicits the trait while in females, homozygous allele A is required for expression<br />1<br />2<br />AA<br />aa<br />4<br />5<br />3<br />6<br />Aa<br />Aa<br />Aa<br />aa<br />7<br />8<br />9<br />10<br />AA<br />aa<br />Aa<br />Aa<br />
  24. 24. AutosomalSex-Influenced<br />Heterozygote males and females express different phenotypes (see 4 and 5)<br />Crossing 3 and 4 may give AA|Aa|aa, but as 7 is an affected female, it must be AA<br />Crossing 5 and 6 may give Aa|aa. If 8 is an unaffected male, it must be aa while 9 being an unaffected female, she could be Aa or aa. <br />1<br />2<br />AA<br />aa<br />4<br />5<br />3<br />6<br />Aa<br />Aa<br />Aa<br />aa<br />7<br />8<br />9<br />10<br />AA<br />aa<br />Aa<br />Aa<br />
  25. 25. AutosomalSex-Influenced<br />Since10 is an affected male, he can only be Aa<br />NOT simple dominance| recessiveness because heterozygote males and females express different phenotypes.<br />NOT sex-limited because it occurs in both sexes.<br />1<br />2<br />AA<br />aa<br />4<br />5<br />3<br />6<br />Aa<br />Aa<br />Aa<br />aa<br />7<br />8<br />9<br />10<br />AA<br />aa<br />Aa<br />Aa<br />
  26. 26. AutosomalSex-Influenced<br />NOT likely to be X-linked dominant nor recessive<br />NOT Y-linked as it is also observed in females<br />1<br />2<br />AA<br />aa<br />4<br />5<br />3<br />6<br />Aa<br />Aa<br />Aa<br />aa<br />7<br />8<br />9<br />10<br />AA<br />aa<br />Aa<br />Aa<br />
  27. 27. X-Dominant Sex-Linked<br />1<br />2<br />XAY<br />XX<br />4<br />5<br />3<br />6<br />7<br />8<br />9<br />10<br />
  28. 28. X-Dominant Sex-Linked<br />Alleles are found on the X chromosome<br />Males with an XA chromosome always expresses the phenotype as he only can only have one X chromosome, thus only one copy (called hemizygous)<br />1<br />2<br />XAY<br />XX<br />4<br />5<br />3<br />6<br />XY<br />XAX<br />XAX<br />XY<br />7<br />8<br />9<br />10<br />XAX<br />XAY<br />XAX<br />XY<br />
  29. 29. X-Dominant Sex-Linked<br />The X chromosome of males always come from their mother<br />A male with a heterozygous affected mother has a ½ chance of also having the phenotype.<br />A male with a homozygous affected mother will always have the phenotype.<br />1<br />2<br />XAY<br />XX<br />4<br />5<br />3<br />6<br />XY<br />XAX<br />XAX<br />XY<br />7<br />8<br />9<br />10<br />XAX<br />XAY<br />XAX<br />XY<br />
  30. 30. X-Dominant Sex-Linked<br />A female with an affected father will always show the phenotype<br />NOT simple dominance| recessiveness if parents are homozygotes. If this is not given/assumed it is indistinguishable.<br />NOT sex-limited because it occurs in both sexes.<br />1<br />2<br />XAY<br />XX<br />4<br />5<br />3<br />6<br />XY<br />XAX<br />XAX<br />XY<br />7<br />8<br />9<br />10<br />XAX<br />XAY<br />XAX<br />XY<br />
  31. 31. X-Dominant Sex-Linked<br />NOT sex-influenced. If pattern is dominant in males, recessive in females (or other way around), the pedigree is inconsistent<br />NOT Y-linked because it is observed in females<br />1<br />2<br />XAY<br />XX<br />4<br />5<br />3<br />6<br />XY<br />XAX<br />XAX<br />XY<br />7<br />8<br />9<br />10<br />XAX<br />XAY<br />XAX<br />XY<br />
  32. 32. X-Recessive Sex-Linked<br />1<br />2<br />XaY<br />XX<br />4<br />5<br />3<br />6<br />7<br />8<br />9<br />10<br />
  33. 33. X-Recessive Sex-Linked<br />Alleles are found on the X chromosome<br />Males with an XA chromosome always expresses the phenotype as he only can only have one X chromosome, thus only one copy (called hemizygous)<br />1<br />2<br />XaY<br />XX<br />4<br />5<br />3<br />6<br />XY<br />XaX<br />XaXa<br />XY<br />7<br />8<br />9<br />10<br />XaX<br />XaY<br />XX<br />XY<br />
  34. 34. X-Recessive Sex-Linked<br />The X chromosome of males always come from their mother<br />A male with an affected mother will always also show the phenotype.<br />A female with an affected father may or may not have the same phenotype<br />1<br />2<br />XaY<br />XX<br />4<br />5<br />3<br />6<br />XY<br />XaX<br />XaXa<br />XY<br />7<br />8<br />9<br />10<br />XaX<br />XaY<br />XX<br />XY<br />
  35. 35. X-Recessive Sex-Linked<br />NOT simple dominance| recessiveness if parents are homozygotes. If this is not given/assumed it is indistinguishable.<br />NOT sex-limited because it occurs in both sexes.<br />NOT sex-influenced if parents are homozygotes. If not, it is indistinguishable.<br />NOT Y-linked because it is observed in females<br />1<br />2<br />XaY<br />XX<br />4<br />5<br />3<br />6<br />XY<br />XaX<br />XaXa<br />XY<br />7<br />8<br />9<br />10<br />XaX<br />XaY<br />XX<br />XY<br />
  36. 36. Y Sex-Linked<br />1<br />2<br />XY*<br />XX<br />4<br />5<br />3<br />6<br />8<br />9<br />10<br />8<br />
  37. 37. Y Sex-Linked<br />Allele is found on the Y chromosome<br />Only males have a Y chromosome and are the only ones with a chance of expressing the trait. This is called a HOLANDRIC trait.<br />NOT simple dominance| recessiveness<br />1<br />2<br />XY*<br />XX<br />4<br />5<br />3<br />6<br />XY*<br />XX<br />XX<br />XY<br />8<br />9<br />10<br />8<br />XY*<br />XY<br />XX<br />XY<br />
  38. 38. Y Sex-Linked<br />NOT sex-limited because all males with an affected father will always express the trait.<br />NOT sex-influenced as it is never expressed in females.<br />NOT X-linked because it is not observed in females<br />1<br />2<br />XY*<br />XX<br />4<br />5<br />3<br />6<br />XY*<br />XX<br />XX<br />XY<br />8<br />9<br />10<br />8<br />XY*<br />XY<br />XX<br />XY<br />
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