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genetics exam 3
Mendelian Inheritance
21
Biology
Undergraduate 2
03/31/2016

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Term

       Describe the types of lesions each DNA repair pathway corrects.

Definition

-Direct Repair= thymine dimers; alkylation by EMS

-Base Excision Repair= non-helix distorting changes of individual bases

-Nucleotide Excision Repair= bulky, helix distorting lesions

-Mismatch Repair= corrects mismatches not caught by proofreading during replication

-Homologous Recombination= uses sister chromatids synthesized for replication to fix double-stranded breaks

-Non-Homologous Recombination= fixes double stranded breaks without aid of sister chromatids

Term

 

 

 

 

 

    For direct repair, explain the function of DNA photolyase and alkyltransferase.

Definition

-Photolyase= recognizes thymine dimers and splits them

-Alkyltransferase= removes methyl and ethyl groups from guanine 

Term

       Explain how N-glycosylase and AP endonuclease function in base excision repair.

Definition

-N-glycosylase= cleaves base from sugar

-AP Endonuclease= makes a nick on the 5’ backbone

Term

       Describe the three different ways the sequence of DNA can be restored in base excision repair.

Definition

3)   DNA Poly S or E synthesizes short segment DNA by created a flap

Term

       Explain the actions of UvrA, UvrB, UvrC, UvrD, DNA polymerase, and DNA ligase in nucleotide excision repair.

Definition

-UvrA/UvrB= finds damaged DNA; UvrA hten dissociates

-UvrC= attaches to site left by UrvA and makes a cut on both sides of damaged site

-UvrD= removes damaged DNA (UvrB/C released)

-DNA polymerase= fills in the gap, using undamaged strand as a template

-DNA Ligase= glues the new connection together

Term

Describe how DNA methylation directs mismatch repair through the actions of MutH, MutS, and MutU.    

Definition

-MutS= locates mismatch

-MutH=distinguished between parental and daughter strand and binds to site with methylation and then cuts the methylated strand

-MutU= separates the strands

-DNA POLY and LIGASE fill in the gaps and seal it back together

Term

       Compare and contrast homologous recombination repair and non-homologous end joining.

Definition

Non-Homologous

Same

Homologous

-Can Occur at any stage of cell cycle

-Doesn’t involve sister chromatids

-May lose some genetic info

-Blunt cuts (no overhangs)

-recruits proteins

-Double stranded breaks

-DNA repair pathway

-Can only occur around the time of replication

-Involves use of sister chromatids

-Strand exchange occurs

-Single strand overhands

Term

       In the Holliday model of recombination, describe the formation of a Holliday junction and how this leads to heteroduplex regions.

Definition

-Holiday Junction= a site where an unresolved crossover has occurred between two homologous chromosomes; creates two separate chromosomes

Because the DNA sequences in the homologous chromosomes are similar but may not be identical, the swapping of the DNA strands during branch migration may produce a heteroduplex (a region in the double stranded DNA that contains base mismatch)

Term

Explain which strands are then broken to give non-recombinant chromosomes OR recombinant chromosomes    

Definition

IF breakage occurs in the strands that were not originally nicked, the rejoining process results in recombinant chromosomes

Term

       In the double-strand break model of recombination, describe how D-loop formation and gap repair synthesis lead to heteroduplex regions.

Definition

After D-loop is formed, two regions have a gap in the DNA. DNA synthesis occurs called DNA gap repair synthesis. Once this is completed, two Holliday Junctions are produced, either recombinant or non-recombinant, which contain small heteroduplexes (base mismatches)

Term

       Explain how gene conversion can occur during recombination.

Definition

Gene Conversion occurs when recombinant chromosomes are repaired and result in two copies of the same allele

Mismatch Repair of a Heteroduplex Region; the two chromosomes had different alleles due to a single base pair difference in DNA sequences

DNA Gap Repair Synthesis; double stranded breaks

Term
Law of Segregation
Definition
= two copies of a gene segregate from each other during transmission from parent to offspring
Term
Law of Independent Assortment
Definition
two different genes will randomly assort their alleles during the formation of haploid cells.
Term
Character
Definition
general characteristics Ex: eye color
Term
Trait
Definition
specific properties of character Ex: blue eyes
Term
Chi Square Test
Definition
determines “goodness of fit” between observed and expected data
Term
Null Hypothesis
Definition
= states that there is no real difference between the expected and observed value, and any difference is attributed to random sampling error
Term
Sampling Error
Definition
deviation between the observed and expected outcomes due to chance
Term
Degrees of Freedom
Definition
n-1) where n= # of categories independent of each other
Term
• Describe the different phases of the eukaryotic cell cycle, including phases of mitosis.
Definition
G1 Phase= cells prepare to divide
S phase= chromosomes are replicated; two copies are called chromatids join at centromere to form sister chromatids
G2 Phase= cell accumulates materials necessary for nuclear and cell division
Prophase= nuclear membrane dissolves and nucleolus becomes less visible; chromatids condense; mitotic spindle begins to form
Prometaphase= nuclear membrane is completely gone; spindle fibers begin to interact with sister chromatids; mitotic spindle is completely formed
Metaphase= sister chromatids align on metaphase plate
Anaphase= centromere breaks; chromosomes move toward the pole to which they are attached
Telophase= chromosomes reach poles and un-condense; nuclear membrane reforms
Term
• Compare and contrast mitosis and meiosis.
Definition
Mitosis Similarities Meiosis
-somatic cells
-2 daughter cells
-1 division
-diploid
-genetically identical Involves PMAT
Cellular division -germ cells
-4 daughter cells
-2 divisions
-haploid
-crossing over occurs
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