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46 Cards in this Set
- Front
- Back
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penetrance
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the number of people who are affected divided by the number of people who should be affected
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Autosomal Dominant Disease Ex.
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Huntington's Disease
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X-Linked Recessive Disease Ex.
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Colorblindness and Fragile-X
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Autosomal Recessive Disease Ex.
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Albinism
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Pleiotropy
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a single gene influences multiple phenotypic traits
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Epistasis
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when the effects of one gene are modified by other genes
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Autosomal Dominant Pedigree
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Affected individuals in each generation
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X-Linked Recessive Pedigree
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a large amount of affected males
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Autosomal Recessive Pedigree
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There will be a few affected males and females
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What is the IQ cap for mental retardation?
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an IQ of 70
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Borderline MR IQ
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70-90
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Mild MR IQ
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50-70
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Moderate MR IQ
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35-50
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Severe MR IQ
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20-35
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Profound MR IQ
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<20
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Mild Mental Retardation accounts for __ of retardation
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85%
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Organic MR
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attributable to a major traumatic event that causes irreversible damage to the developing CNS
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Cultural/Familial MR
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attributable to the cumulative effect of the multiple minor factors that contribute to variation of IQ throughout its normal range
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Organic MR is typically (more/less) severe than Cultural/Familial MR.
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more
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It is more common for a (male/female) to be mentally retarded.
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male
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Most common form of inherited mental retardation is...
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Fragile X (X-linked mental retardation)
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A female typically has (one/two) active X chromosome(s)
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one
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If a mother is mentally retarded it is also likely that
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her children, especially boys, will be affected
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Differential-Loading Hypothesis
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Affected females have a higher genetic loading for the disease, thus making the disease much more heritable for her offspring
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General Cognitive Abilities
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verbal ability
spatial ability memory processing speed |
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Heritability Formula (for E)
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1-A or 1-rMZ
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Heritability Formula (DZ < 1/2 MZ)
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A+C rMZ
1/2A+C rDZ |
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Heritability Formula (DZ>1/2 MZ)
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1rMZ+D
1rDZ+0.5D |
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The gene APOE is associated with...
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Alzheimer's
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As an individual gets older ______ increases and ________ decreases
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heritability, shared environment
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Dyslexia
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difficulties with learning despite adequate intelligence, sociocultural opportunity, and conventional instruction
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Length of the Human Genome
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~3,000,000,000 bps
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The Average protein is made up of...
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~400 amino acids
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Exons
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the DNA actually codes for something
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Introns
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the part of DNA that doesn't code for anything
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Nonsense Mutation
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a mutation that causes a STOP codon in the genetic code
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Silent Mutation
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a mutation that doesn't change which amino acid is produced
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Expanded Triplet repeat
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a 3-letter code that repeats itself over and over again
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Frameshift Mutation
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a basepair is deleted and all the bps being read later are read with a shift over
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Missense mutation
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the wrong bp is placed and it codes for another amino acid to be produced
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Microsatellite repeats
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a chain of base pairs repeated a variable number of times (rarely functional)
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Single Nucleotide Polymorphisms (SNPs)
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is a one base pair change (typically functional)
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Copy Number Variation (CNV)
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Gains and losses of large chunks of DNA sequence
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Promoters
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initiate transcription
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Enhancers
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increase transcription rate
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Silencers
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reduce transcription rate
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