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Somatic Mutations
- occur in body cells
- not passed to offspring
- passed onto daughter cells
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Germ Line Mutations
- occurs in cells of germ line
- passed onto offspring
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4 different phenotypic effects of mutations
- Silent Mutations
- Loss of function mutations
- gain of fuction mutation
- conditional mutations
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Silent mutations
- mutations that do NOT affect protein function
- EX- can cause repeats sequences in noncoding DNA
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Loss of function Mutations
- DOES affect protein functions
- may lead to non functional proteins
- EX- the recessive "wrinkled" seeds in Mendels expirements
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Gain of Function Mutation
- ALTERS a proteins function
- EX- Dominant traits
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Conditional Mutations
- only show within certain conditions
- EX- tempurature sensitive
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2 categories of mutations
- Point mutation
- chromosomal mutations
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Point mutations
result from addition or subtraction of a nucleotide base, or the substitution of one base for another
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4 types of point mutations
- Silent mutations
- missense mutations
- nonsense mutations
- frame-shift mutations
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Silent mutations
- mutations that have no effect on amino acids sequences
- usually found in noncoding DNA
- result in genetic diversity and is not expressed as phenotypic difference
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missense mutations
- an amino acid is substituted for another in a protein
- EX- sickle cell anemia
- may have no effect on a protein, may reduce the fxn of a protein, or may cause the protein to gain a function
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Nonsense mutation
- involes a base substitution that stops a codon to form
- results in a shortened protein
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Frame-shift mutation
- Single or couble bases are inserted or deleted
- interferes with the translation of a genetic message
- creates a shift of translation
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4 types of chromosomal mutations
- deletions
- duplications
- inversions
- translocations
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Deletions
results from removal of part of the genetic material
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duplications
resulting form a chromosome having 2 copies of a segment that was deleted from the sister chromatid
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inversions
results when a segment is deleted then reinserted into the same chromosome but flipped over
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translocations
- results from a segment breaking off and is inserted into another chromosome
- reciprocol translocations can happen if there is a trade of these segments
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restriction enzymes
- used to defend bacteria from bacteriophages
- cuts down double stranded DNA molecules into smaller, noninfectious pieces
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restriction digestion
the cutting process used by enzymes
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recognition sequence/restriction site
the site where the restriction enzyme cuts the DNA
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Gel eletrophoresis
- used to seperate or purify DNA fragments
- can help determine #of fragments, size of fragments, and abundance of fragments
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DNA fingerprinting
technique used to ID individuals based on their DNA profiles
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Single nucleotide polymorphisms (SNPs)
- inheritated variations involving a single nucleotide base (a point mutation)
- EX - "ABCDEF" to "GBCDEF"
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Short tandem repeats (STRs)
- short repetative DNA sequences that occur side by side on the chromosome
- EX - "AGGAGGAGGAGGAGG"
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Prion
- a protein free of DNA or RNA
- "proteinaceous infective particle"
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multifactorial
diseases caused by the interactions of many genes and proteins with one or more factors of the environment
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reverse genetics
the process of finding the protein from the DNA instead of vise versa
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genetic markers
reference points for gene isolation
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restriction fragment length polymorphisms (RFLPs)
the differences in DNA sequences due to mutations in the restriction sites
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Expanding triplet repeats
- a phenomenon that is unknown about
- a fragment of DNA that is mutated is repeated and that fragment grows
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DNA testing
- the direct analysis of DNA for mutations
- offers the most direct and accurate wat to detect an abnormal allele
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gene therapy
the act of inserting a new gene to be expressed in the host
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