Genetic Disorders. Caused by a harmful mutation (physical change of gene) Mutation originally occurs...
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Transcript of Genetic Disorders. Caused by a harmful mutation (physical change of gene) Mutation originally occurs...
![Page 1: Genetic Disorders. Caused by a harmful mutation (physical change of gene) Mutation originally occurs in gamete and is passed to future generations (inherited)](https://reader036.fdocuments.us/reader036/viewer/2022070414/5697c00f1a28abf838cca708/html5/thumbnails/1.jpg)
Genetic Disorders
![Page 2: Genetic Disorders. Caused by a harmful mutation (physical change of gene) Mutation originally occurs in gamete and is passed to future generations (inherited)](https://reader036.fdocuments.us/reader036/viewer/2022070414/5697c00f1a28abf838cca708/html5/thumbnails/2.jpg)
Genetic Disorders
• Caused by a harmful mutation (physical change of gene)
• Mutation originally occurs in gamete and is passed to future generations (inherited)
• The gene that is mutated determines the disease. The allele that is mutated determines its inheritance pattern
![Page 3: Genetic Disorders. Caused by a harmful mutation (physical change of gene) Mutation originally occurs in gamete and is passed to future generations (inherited)](https://reader036.fdocuments.us/reader036/viewer/2022070414/5697c00f1a28abf838cca708/html5/thumbnails/3.jpg)
Autosomal Recessive• Mutation produces a recessive allele
• Genotypes:
CC: unaffected
Cc: carrier (unaffected)
cc: affected
• Examples: Cystic Fibrosis, Tay-Sachs, Sickle Cell Anemia (inc. dominance)
If two unaffected parents have a child with cystic fibrosis, what are their genotypes?
![Page 4: Genetic Disorders. Caused by a harmful mutation (physical change of gene) Mutation originally occurs in gamete and is passed to future generations (inherited)](https://reader036.fdocuments.us/reader036/viewer/2022070414/5697c00f1a28abf838cca708/html5/thumbnails/4.jpg)
Autosomal Recessive Pedigree
![Page 5: Genetic Disorders. Caused by a harmful mutation (physical change of gene) Mutation originally occurs in gamete and is passed to future generations (inherited)](https://reader036.fdocuments.us/reader036/viewer/2022070414/5697c00f1a28abf838cca708/html5/thumbnails/5.jpg)
X-linked Recessive• Mutation produces a recessive allele on the X chromosome.• Genotypes:
• Examples: Hemophilia A, Red-green Color Blindness
Female Male
XHXH - unaffected XHY - unaffected
XHXh – carrier (unaffected) XhY - affected
XhXh - affected No male carrier
Diane’s father and brother have hemophilia. There is no family history of hemophilia in Craig’s family. What is the probability that their child will have hemophilia. What if they have a girl? A boy?
![Page 6: Genetic Disorders. Caused by a harmful mutation (physical change of gene) Mutation originally occurs in gamete and is passed to future generations (inherited)](https://reader036.fdocuments.us/reader036/viewer/2022070414/5697c00f1a28abf838cca708/html5/thumbnails/6.jpg)
X-linked Recessive Pedigree
![Page 7: Genetic Disorders. Caused by a harmful mutation (physical change of gene) Mutation originally occurs in gamete and is passed to future generations (inherited)](https://reader036.fdocuments.us/reader036/viewer/2022070414/5697c00f1a28abf838cca708/html5/thumbnails/7.jpg)
Autosomal Dominant• Mutation produces a dominant allele
• Genotypes:
HH: affected
Hh: affected
hh: unaffected
• Examples: Huntington Disease
Although Huntington disease is very rare in the total population, it appears at a rate of 50 percent in affected families. Explain this in genetic terms.
![Page 8: Genetic Disorders. Caused by a harmful mutation (physical change of gene) Mutation originally occurs in gamete and is passed to future generations (inherited)](https://reader036.fdocuments.us/reader036/viewer/2022070414/5697c00f1a28abf838cca708/html5/thumbnails/8.jpg)
Autosomal Dominant Pedigree
![Page 9: Genetic Disorders. Caused by a harmful mutation (physical change of gene) Mutation originally occurs in gamete and is passed to future generations (inherited)](https://reader036.fdocuments.us/reader036/viewer/2022070414/5697c00f1a28abf838cca708/html5/thumbnails/9.jpg)
Chromosomal Disorders
• +/- chromosomes1 extra: trisomy1 missing: monosomy
• Caused by nondisjunction: failure of one or more chromosome pairs to separate during meiosis
• Examples: Down Syndrome, Klinefelter’s Syndrome, Turner’s Syndrome
![Page 10: Genetic Disorders. Caused by a harmful mutation (physical change of gene) Mutation originally occurs in gamete and is passed to future generations (inherited)](https://reader036.fdocuments.us/reader036/viewer/2022070414/5697c00f1a28abf838cca708/html5/thumbnails/10.jpg)
Nondisjunction can occur during Meiosis I or Meiosis II
![Page 11: Genetic Disorders. Caused by a harmful mutation (physical change of gene) Mutation originally occurs in gamete and is passed to future generations (inherited)](https://reader036.fdocuments.us/reader036/viewer/2022070414/5697c00f1a28abf838cca708/html5/thumbnails/11.jpg)
Down Syndrome (Trisomy 21)
![Page 12: Genetic Disorders. Caused by a harmful mutation (physical change of gene) Mutation originally occurs in gamete and is passed to future generations (inherited)](https://reader036.fdocuments.us/reader036/viewer/2022070414/5697c00f1a28abf838cca708/html5/thumbnails/12.jpg)
Turner Syndrome (45, X)
![Page 13: Genetic Disorders. Caused by a harmful mutation (physical change of gene) Mutation originally occurs in gamete and is passed to future generations (inherited)](https://reader036.fdocuments.us/reader036/viewer/2022070414/5697c00f1a28abf838cca708/html5/thumbnails/13.jpg)
Klinefelter Syndrome (47, XXY)