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11 Cards in this Set

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