Term
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Definition
| inherited traits and their variations |
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Term
|
Definition
| chemical trait/code in DNA |
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Term
| DNA is made of long strings of chemicals called _____ |
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Definition
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Term
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Definition
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Term
| What 3 properties of DNA allow for it to be the basis of life? |
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Definition
| can copy itself (replication), can change (mutation and variation), has info for production of functional organisms (expression) |
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Term
| ____ is all the DNA in a cell |
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Definition
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Term
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Definition
| segment of DNA (instructional unit) in a cell; codes for proteins |
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Term
| Genes are expressed into ___ |
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Definition
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Term
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Definition
| different versions of the same gene |
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Term
| Structures and functions of the body are carried out by ____ |
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Definition
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Term
| DNA has the code for ____ |
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Definition
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Term
| When a gene instructs the production of a protein we say it is _____ |
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Definition
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Term
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Definition
| single nucleotide polymorphisms; sequence differences throughout the DNA |
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Term
| What are the 22 pairs of cells in a chromosome that do not differ between sexes? |
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Definition
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Term
| Genotype refers to the combination of ____ |
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Definition
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Term
| What 3 individuals are responsible for the initial discoveries regarding DNA? |
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Definition
| Roselyn Franklin and Watson and Crick |
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Term
| What are the 3 components of a nucleotide? |
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Definition
| sugar, phosphate, and nitrogenous base |
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Term
| What are the two categories of nucleotides? |
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Definition
| Purines (guanine and adenine) and Pyrimidines (cytosine and thymine) |
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Term
| What is another name for nucleotides? |
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Definition
|
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Term
|
Definition
| long chains of nucleotides |
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Term
| Sequences are held together by the _____ |
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Definition
| sugar-phosphate backbone (bond between sugar and phosphate groups) |
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Term
| What is the term that describes the relationships between two sides of a DNA strand? |
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Definition
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Term
| What is the name of the top end of a DNA strand? |
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Definition
|
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Term
| What is the name of the bottom end of a DNA strand? |
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Definition
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Term
| Nitrogen bases (nucleotides) are held together with ___ bonds |
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Definition
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Term
| Describe a complementary base pair |
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Definition
| two nucleotides held together by hydrogen bonds |
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Term
|
Definition
| proteins that help keep the DNA helix tight (compress) |
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Term
|
Definition
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Term
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Definition
| combination of DNA and proteins in their condensed form; content of nucleus |
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Term
| How is DNA replication semiconservative? |
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Definition
| DNA parent cell splits in half; parent cell is paired with new DNA cell to make daughter cell |
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Term
| What is the purpose of helicase? |
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Definition
| unwinds double helix of DNA |
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Term
| What is the purpose of binding proteins? |
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Definition
| attach and stabilize halves of DNA; keeps strands apart once seperated |
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Term
| What is the function of primase? |
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Definition
| adds short primer (short stretch of RNA) to template strand |
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Term
| What is the function of DNA polymerase? |
|
Definition
| brings in new nucleotides to form new DNA strands |
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Term
| Describe Okazaki fragments |
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Definition
| sides of the new DNA that is replicated discontinuously |
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Term
| Okazaki fragments are sealed by what? |
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Definition
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Term
| DNA replication occurs along a chromosome in ____ |
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Definition
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Term
| DNA adds nucleotides in a ___ to ___ direction |
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Definition
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Term
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Definition
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Term
|
Definition
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Term
| ___ determine overall phenotype of an organism |
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Definition
|
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Term
| Describe the Central Dogma of Molecular Biology |
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Definition
| central flow of genetic info is from DNA to RNA to protein |
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Term
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Definition
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Term
| ____ is the primary unit of DNA |
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Definition
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Term
| ___ is the primary unit of RNA |
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Definition
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Term
| What are 3 functions of proteins? |
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Definition
| cellular structures, transporting molecules and signaling molecules |
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Term
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Definition
| makes RNA copy of DNA gene that is complementary to one strand of DNA helix |
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Term
| What are the RNA nucleotides? |
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Definition
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Term
| What is the final product of transcription? |
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Definition
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Term
| ___ encodes AA sequences (type of RNA) |
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Definition
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Term
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Definition
| intervening sequences in mRNA that don't code proteins but allow for smoother transcription and are spliced at the end |
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Term
|
Definition
| removes introns and joins exons to make continuous coding sequence during transcription |
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Term
| Before mRNA leaves the nucleus, what must happen to it? |
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Definition
| cap is added to 5' end and poly-a tail ( many Adenines) is added to 3' end |
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Term
| What is the function of rRNA? |
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Definition
| associates with proteins to form ribosomes; support and catalyze protein synthesis |
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Term
| What is the purpose of tRNA? |
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Definition
| transports specific AA to the ribosomes for protein synthesis |
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Term
| What are the 3 steps of transcription? |
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Definition
| initiation, elongation, termination |
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Term
|
Definition
| DNA sequence at the beginning of a gene that act as start sequences for transcription |
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Term
| Define alternative splicing |
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Definition
| leads to mix and match of exons to make different versions of proteins |
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Term
| Describe the initiation step of transcription |
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Definition
| RNA polymerase binds to promotor to unwind double helix |
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Term
| Define transcription factors |
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Definition
| proteins that help turn on transcription |
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Term
| Describe the termination phase of transcription |
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Definition
| RNA polymerase reaches terminator sequence and detaches from template |
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Term
| __ nucleotides in a row= __ codon= __ AA |
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Definition
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|
Term
| AA's are connected through a ___ bond |
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Definition
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Term
| What 3 items are required for translation to occur? |
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Definition
|
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Term
| Describe the makeup of tRNA |
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Definition
| Key between mRNA and AA; one end is anticodon that complimentary base pairs with mRNA, other end is AA |
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Term
| What is always the first AA in translation? |
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Definition
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Term
| Describe termination in translation |
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Definition
| ribosome reaches a stop codon and everything disassociates; peptide chain is left intact and is now a protein |
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Term
| What is the purpose of control of gene expression? |
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Definition
| cell differentiation, cell function and cell development |
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Term
| At what 3 times are genes typically transcribing? |
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Definition
| specific cell function, development stage or response to environment |
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Term
| If a protein is unnecessary it will stop at the point of _____ |
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Definition
| transcription; most important point of gene regulation |
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Term
| What is the broadest level of gene regulation? |
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Definition
| DNA packaging; limits access to genes so transcription can't begin |
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Term
| What is the name for an inactivated X gene in females? |
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Definition
|
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Term
| Describe epigenetic marks |
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Definition
| modifications made to DNA or histones; control access to DNA; the more marks, the less the gene is expressed |
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Term
| How do epigenetic marks work? |
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Definition
| Proteins or chemicals that attach to nucleotides or histone tails to control access to DNA |
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Term
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Definition
| study of heritable changes in genes that are not due to change in DNA sequence; different phenotype same genotype |
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Term
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Definition
| regular differences between people that occur in >1% of population; SNP |
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Term
| If the genotype shows a mutation the phenotype will be a ____ |
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Definition
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Term
| If a mutant allele appears in the genotype, the phenotype will be a ____ |
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Definition
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|
Term
| What are the two general categories of mutations? |
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Definition
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Term
| Describe germline mutations |
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Definition
| inherited; present in DNA of all cells; can be passed to next generation |
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Term
| Describe somatic mutations |
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Definition
| not inherited; DNA acquires all change in one cell then all subsequent cells have the mutation; limited to one part of the body; cancer |
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Term
|
Definition
| concern single nucleotide (base) change |
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|
Term
| What are two types of points mutations? |
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Definition
| transitions and transversion |
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Term
ID
When purine mutates to another purine |
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Definition
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|
Term
ID:
when pyrimidine mutates to purine or vice versa |
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Definition
|
|
Term
| What type of mutation is sickle cell |
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Definition
|
|
Term
| What are 4 possible outcomes of point mutations? |
|
Definition
| missense, nonsense, silent, readthrough |
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Term
| Describe missense mutations |
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Definition
| codes for a different AA than what it should |
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Term
|
Definition
| no difference in protein made |
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Term
| Describe nonsense mutation |
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Definition
| causes stop codon to appear where it shouldn't; factor 11 deficiency |
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Term
| Describe read through mutation |
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Definition
| occur when normal stop codon is mutated into regular AA; causes long proteins; wilm's tumor |
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Term
| Describe splice site mutations |
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Definition
| occurs where introns/exons meet and disrupts splicing; can result in intron being translated to AA or exon skipping |
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Term
| What are 3 possible results of insertions and deletions? |
|
Definition
| frameshift mutation, tandem duplication, expanding triplet repeats |
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Term
| Describe tandem duplication in gene mutation |
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Definition
| when duplications of large regions of genetic sequence are inserted into existing sequence |
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Term
| Describe expanding triplet repeats in gene mutations |
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Definition
| number of repeats increases with each generation; symptoms and severity increase and have earlier onset |
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Term
| Describe spontaneous causes of mutation |
|
Definition
| originate during DNA replication at low frequency |
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Term
| Describe a mutational hot spot |
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Definition
| occurs more often in regions and repeats; during replication DNA can pair with itself creating hairpin loop |
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Term
|
Definition
| causes insertions jumping genes with small sequences scattered in DNA |
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|
Term
| What are two types of effects of mutations on proteins? |
|
Definition
| loss of function and gain of function |
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Term
| Describe loss of function in mutations |
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Definition
| more common and caused by all types of mutations; no proteins or damaged ones that don't work properly |
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Term
| Describe gain of function in mutation |
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Definition
| protein produced that behaves differently (interferes with other proteins or has new different function); not as common and caused by framshifts, insertions and expanding triplet repeats |
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Term
| Describe allelic disorder |
|
Definition
| same gene different mutations different effects on proteins, different phenotypes |
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Term
|
Definition
| missense mutation results in gain of functio and alzheimer disease; nonsense and frame shift mutations result in loss of function and sever acne disorder |
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Term
|
Definition
| genetic diversity; disease resistance |
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Term
| Describe conditional mutations |
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Definition
| effect phenotype only under certain circumstances |
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Term
|
Definition
| division of cellular contents |
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|
Term
| What are the two major stages of the cell cycle? |
|
Definition
|
|
Term
|
Definition
| most of the cell's life is in this phase; maintain basic function; replicate DNA and other structures |
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|
Term
| What are the 4 phases of interphase? |
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Definition
|
|
Term
ID phase of interphase:
synthesis of components |
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Definition
|
|
Term
ID phase of interphase:
quiescent phase |
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Definition
|
|
Term
ID phase of interphase:
replicates entire genome; chromosomes duplicate and appear as 2 chromatids |
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Definition
|
|
Term
ID phase of interphase:
after DNA has been replicated but before mitosis |
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Definition
|
|
Term
| What are the 5 phases of mitosis? |
|
Definition
| prophase, metaphase, anaphase, telophase, cytokinesis |
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|
Term
ID phase of mitosis:
mitotic spindle forms centrioles in the cell |
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Definition
|
|
Term
ID phase of mitosis:
chromatids line up |
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Definition
|
|
Term
ID phase of mitosis:
sister chromatids are pulled apart from each other |
|
Definition
|
|
Term
ID phase of mitosis:
spindle dissasembled; envelopes for around cluster of chromosomes |
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Definition
|
|
Term
ID phase of mitosis:
when the rest of the cell contents are distributed to daughter cells |
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Definition
|
|
Term
| Describe the cell cycle checkpoints |
|
Definition
| checks for DNA damage, spindle assembly, and apoptosis; cancer occurs when cycle is out of control |
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|
Term
| Describe the mitotic clock |
|
Definition
| determines how many times a cell has a divided and how many divisions it has left |
|
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Term
|
Definition
| tips of chromosomes that shorten after each division. Division ceases when telomeres disappear |
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|
Term
| For meiosis chromosomes are matched in ___ |
|
Definition
| homologous pairs; same genes at same loci |
|
|
Term
| How many pairs of chromosomes do humans have? |
|
Definition
|
|
Term
|
Definition
| reduction division: 1 diploid splits into 2 haploid |
|
|
Term
| In Meiosis when does crossing over occur? |
|
Definition
| prophase 1; homologous reombination |
|
|
Term
|
Definition
| homologous pairs line up side by side in prophase 1 |
|
|
Term
| What happens in meiosis 2? |
|
Definition
| segregation of sister chromatids |
|
|
Term
| Describe single gene inheritance |
|
Definition
| caused by genetic mutation in one gene only; rare |
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|
Term
| Describe the mode of inheritance |
|
Definition
| pattern in which mutations affect a family |
|
|
Term
| What type of genetic mutation is CF? |
|
Definition
|
|
Term
| Describe Mendel's Law of Segregation |
|
Definition
| reflects what is happening on chromosomal level during gene inheritance |
|
|
Term
| Identical alleles for a gene is ____ |
|
Definition
|
|
Term
| Two different alleles is _____ |
|
Definition
|
|
Term
|
Definition
| the position for a gene on a chromosome |
|
|
Term
| Huntington's disease is ____ ____ |
|
Definition
|
|
Term
| Describe autosomal dominant |
|
Definition
| you only need one dominant gene to cause a condition;stops after one generation where no one is effected |
|
|
Term
| Autosomal dominant diseases usually cause what kind of mutation? |
|
Definition
|
|
Term
| Autosomal recessive diseases usually result in a ___ mutation |
|
Definition
|
|
Term
| Describe autosomal recessive genes |
|
Definition
| can skip generations; more likely to occur with incest |
|
|
Term
| Describe the law of independent assortment |
|
Definition
| for two genes on different chromosomes the inheritance of one does not influence the inheritance of the other |
|
|
Term
| Describe the product rule under the law of independent assortment |
|
Definition
| the chance that two independent events will both occur is the product of the chance that it will occur alone |
|
|
Term
| Describe conditional probability |
|
Definition
| chance of having offspring with certain genotype when you are unsure of those of the parents'; use punnett square and pedigree |
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