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1. Role of mRNA in protein synthesis - ANSWER carries the instructions for
protein synthesis, obtained from the DNA molecule, into the cytoplasm
(where protein synthesis takes place)
formed from DNA by transcription
2. Role of tRNA in protein synthesis - ANSWER reads the instructions and
delivers appropriate amino acids to the ribosome
3. Role of rRNA in protein synthesis - ANSWER translates the instructions
and provides machinery needed for protein synthesis
4. Gene expression - ANSWER the degree to which a gene or particular
group of genes are actively being transcribed
5. What initiates transcription? - ANSWER RNA polymerase (enzyme that
binds to a promoter site on DNA)
, 6. Mitosis creates ____ cells - ANSWER somatic
7. Meiosis creates ____ cells - ANSWER germ (results in gametes)
8. Organization of chromosomes - ANSWER 22 pairs of autosomes, 1 pair
of sex chromosomes
9. Polygenic inheritance - ANSWER occurs when multiple genes determine
the phenotype of a trait
10.Multifactorial inheritance - ANSWER an interaction between genes and
the environment that contributes to a phenotype or trait
11. Genetic imprinting - ANSWER type of transmission in which the
parental genomes do not contribute equally in the development (there is a
parent of origin)
12. Pedigree - ANSWER graphic representation of genetic inheritance used
by geneticists to map genetic traits
useful for genetic counseling
13.Genetic mapping - ANSWER The process of determining the location
and chemical sequence of specific genes on specific chromosomes.
, 14. What DNA change contributes to aging - ANSWER the shortening or
erosion of telomeres
15. Locus - ANSWER position of a gene on a chromosome
16. Polymorphism - ANSWER genes that have more than one normal allele
(alternate forms) at the same locus
17. Codominance - ANSWER A condition in which both alleles for a gene
are fully expressed
eg blood type is an example of codominance and polymorphism
18.What % does an autosomal dominant disorder have of being transmitted to
each offspring? - ANSWER 50% - transmitted regardless of sex
19. Reduced penetrance - ANSWER when a person inherits a dominant
mutant gene but fails to express it
20. Variable expressivity - ANSWER individuals with the same genotype
may have different phenotypes
Eg. polydactyly presenting in fingers vs toes
21.Marfan syndrome - ANSWER autosomal dominant disorder of the
connective tissue that affects fibrillin
, - affects eyes (myopia and retinal detachment), CV system (mitral valve
prolapse, weakness of aorta), bones and joints
22. Physical characteristics of Marfan syndrome - ANSWER long, thin body
with exceptionally long extremities and long, tapering fingers
(arachnodactyly)
23. Treatment of Marfan syndrome - ANSWER echocardiograms and
electrocardiograms to assess status of CV system, eye exams, evaluation of
skeletal system
24.Neurofibromatosis - ANSWER genetic disorder that causes tumors to
develop from Schwann cells of neurologic system
25. Type 1 neurofibromatosis characteristics - ANSWER cutaneous and
subcutaneous lesions, cafe-au-lait spots (at least 6 at birth), freckles,
scoliosis, erosive bone defects, neurologic complications (learning
disabilities, ADD, abnormalities of speech, seizures)
26. Type 2 neurofibromatosis characteristics - ANSWER tumors of the
acoustic nerve (headaches, hearing loss, tinnitus)
27. Phenylketonuria - ANSWER PKU - rare autosomal recessive metabolic
disorder which allows toxic levels of amino acid phenylalanine to
accumulate in tissues and blood