outline 18 vii. mutation e. examples: human genetic ...winn/bsc2011_02/lecture18.pdf · sex...
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OUTLINE 18VII. Mutation
E. Examples: Human genetic abnormalitiesF. Chromosomal abnormalities
1. Chromosome breakage2. Aneuploidy and non-disjunction
H. Characterization of Human Genetitc abnormalities1. Pedigree analysis2. Sex chromatin analysis3. Karyotype analysis4. 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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Turner’s syndrome XO
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Klinefelter’s 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 earlobe Free earlobe
= male
= female
= attached
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Fig 14.14 Use of pedigree analysis
Attached earlobe Free earlobe
= male
= female
= attached
ff
ff
ff
ff ffFf
Ff
FfORFF
Ff
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Sex chromatin: Barr body