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11 Cards in this Set
- Front
- Back
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Chromosome disorders
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Entire chromosomes are missing, duplicated or otherwise altered - Down syndrome, Turner syndrome
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Single gene disorders
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Single genes are altered - cystic fibrosis, sickle cell, hemophilia
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Multifactorial diseases
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Combination of multiple genetic and environmental causes - heart disease and diabetes
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Classes of DNA
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Single copy DNA and repetitive DNA
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Types of repetitive DNA
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Dispersed repetitive and satellite DNA
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Meiosis I is also called _
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Reduction division stage - 2 haploid cells from diploid
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Meiosis II is also called _
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Equational division - each haploid cell is replicated
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Synapsis
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Pairing of homologous chromosomes
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Bivalent
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Each pair of interwined homologous chromosomes - also called tetrad
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Gain of function mutations
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- Occasionally result in completely new protein or overexpression of the protein
- Dominant diseases |
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Loss of function mutations
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- Recessive diseases
- 50% of protein is lost but other 50% is normal |
