OUTLINE 18

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• OUTLINE 18
• VII. Mutation
• E. Examples Human genetic abnormalities
• F. Chromosomal abnormalities
• 1. Chromosome breakage
• 2. Aneuploidy and non-disjunction
• Characterization of Human Genetitc abnormalities
• 1. Pedigree analysis
• 2. Sex chromatin analysis
• 3. Karyotype analysis
• 4. Gene sequencing and marker genes

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Albinism
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Sickle cell
Normal red blood cell
Sickle cell anemia an autosomal co-dominant
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Fig. 15.11 Non-disjunction leading to aneuploid
gametes
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Turners syndrome XO
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Klinefelters syndrome XXY
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XYY Male
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Cri du chat
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Fig 14.14 Use of pedigree analysis
attached
Attached earlobe
Free earlobe
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Fig 14.14 Use of pedigree analysis
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Ff
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Ff
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Ff
attached
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Ff OR FF
Attached earlobe
Free earlobe
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Sex chromatin Barr body
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