CH 13-16 Flashcards

1
Q

Sex (X) Linked Chromosomes

A

When a gene is present on the X chromosome and not on the Y. Results in the gene being present in different numbers of females (XX) than males (XY)

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2
Q

Unlinked genes

A

Genes that are found on different chromosomes or far enough apart on the same chromosome where they assort independently

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3
Q

Linked Genes

A

When genes are close together on the same chromosome. Therefore these genes are more likely to be inherited as a unit.

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4
Q

Linkage maps

A

Shows the order and relative distance between certain genes on the chromosome.

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5
Q

Recombination Frequency

A

(total recombinant offspring) / (total offspring)

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6
Q

Aneuplodity

A

Results from the fertilization of gametes in which nondisjunction occurred. Is a condition in which offspring have an abnormal number of a particular chromosome.

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7
Q

Trisomic

A

A zygote has 3 copies of a particular chromosome

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8
Q

Monosomic

A

A zygote with only 1 copy of a particular chromosome.

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9
Q

Nondisjunction

A

When homologous chromosomes or sister chromatids fail to separate properly during meiosis causing an abnormal chromosomal number.

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10
Q

Polyploidy

A

More than 2 complete sets of chromosomes in an organism.

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11
Q

Chromosomal Deletion

A

a chromosomal segment is removed

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12
Q

Chromosomal duplication

A

A segment of chromosomes is repeated

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13
Q

Chromosomal inversion

A

Reverse of a segment within a chromosome

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14
Q

Chromosomal translocation

A

moves on segment from one chromosomes to another nonhomologous

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15
Q

Klinefelter syndrome

A

Extra X chromosome in a male; XXY

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16
Q

Turner Syndrome

A

monosomy x chromosome;(XO) karyotype.

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17
Q

Cri du chat

A

Caused by a deletion in chromosome 5. Causes severe mental retardation.

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18
Q

Codons

A

3 nucleotide sets

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19
Q

Open Reading frame (ORF)

A

Refers to which nucleotide starts the 1st codon.

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20
Q

Stop Codons

A

Nonsense codons; UAA, UAG, UGA

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21
Q

Start Codon

Amino Acid

A

AUG

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22
Q

Genes

A

A specific sequence of nucleotides on a strand of DNA. Typically leads to the production of a specific protein product.

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23
Q

Messenger RNA (mRNA)

A

Acts as a messenger between DNA and protein production. DNA is translated into mRNA (using RNA polymerase) and serves as a template since DNA cant leave the nucleus.

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24
Q

Frame shift mutation

A

Insertion or deletion of a nucleotide that shifts the reading frame of an mRNA and changes the entire protein message causing a nonfunctional protein or terminates protein synthesis altogether.

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25
The process by which DNA directs protein synthesis
Transcription and Translation
26
Gene Sequence
determines the sequence of nucleotides along the length of a mRNA
27
Steps of transcription
Initiation Elongation Termination
28
Promoter | RNA
Indicates where the RNA polymerase should bind and start. (TATA box)
29
Transcription Initiation
Transcription factors bind to the promoter region with RNA polymerase and begins to synthesize the RNA transcript in the 5' to 3' direction
30
Transcription Elongation
RNA polymerase unwinds the DNA to access the template strand and produces the RNA transcript. (5' to 3' direction)
31
Templated strand
antisense strand; DNA strand used to synthesize mRNA
32
Non-template Strand
sense strand; DNA strand not used, its sequence matches up with RNA
33
Transcription Termination
RNA polymerase reaches the termination sequence. The RNA transcript is released and detaches from the DNA.
34
5' cap and Poly A-tail
Protect the mRNA strand from being degraded by certain enzymes. (-AAAA)
35
Pre-mRNA
mRNA with introns and exons.
36
Introns
Longer sequence of nucleotides that don't code for anything
37
Exons
Shorter sequences of nucleotides that will be used to synthesize proteins.
38
RNA splicing
The process of removing introns and joining together exons to form a mature mRNA. This is accomplished using spliceosomes
38
Alternative splicing
Process of selecting different combinations of splice spites within a pre-mRNA to produce variably splices mRNA. Introns provide alternative cut sites for this.
39
tRNA
Single RNA strand that has anticodons on one side and carry a specific amino acid on the other side (specified by the anticodon)
40
aminoacyl-RNA synthetase
Joins each amino acid to the correct tRNA
41
Ribosome
Responsible for translating the mRNA protein and consists of a small and larger subunit. Has the E-site, P-site, A-site (left to right)
42
Translation Initiation
The ribosome assembles around the mRNA and the first tRNA around the start codon.
43
Translation Elongation
tRNA binds to the exposed codon, a new amino acid attaches to the polypeptide chain and the ribosome shifts one codon over on the mRNA. The amino acid bond together to build the polypeptide chain out of the P-site.
44
Translation Termination
Reached when the STOP codon is recognized by the mRNA (no tRNA matches with the stop codon)
45
Signal sequences
End of the amino acid that directs the protein to the destination
46
Signal-Recognition particles (SRP)
Acts as conductors since signals sequence removed
47
Chapterones
help proteins fold properly.
48
Spontaneous mutations
occur randomly during DNA replication, recombination or repair.
49
Induced mutations
cause by mutagens :(
50
Silent mutation
A mutation that has no effect on the protein sequence
51
Missense mutation
results in a change in the amino acid
52
Nonsense mutation
substitutes a stop codon for an amino acid
53
Operons
Organization of proteins wit similar functions or same biochemical pathway
54
Repressors
suppresses transcription
55
Activators
Increase transcription
56
Inducers
May suppress or activate transcription depending on the needs of the cell
57
trp Operon
Activate when tryptophan molecules bind to the repressor protein at the operator sequence. Physically blocks the RNA polymerase from transcribing genes by binding to operator
58
When trp is absent
the repressor protein does not bind to the operon. The RNA polymerase can access the operator and genes are transcribe.
59
Lac Operon
Absence of lactose, repressor blocks the RNA polymerase from transcribing. Presence of lactose releases the repressor so transcription may proceed.
60
Epigenetic stage
Chemical modification during DNA packaging that changes the accessibility of genes in the long or short term. Such as the chemical modification of histone tails affects configuration of chromatin and gene expression.
61
Post Transcription Regulation
RNA stability; The lifetime of an mRNA molecule in the cytosol affects how many proteins can be made from it. Small regulatory RNAs called microRNAs can bind to target mRNAs and cause them to be chopped up.
62
Post translation
When the addition Ubiquitination tags increases the likelihood of degradation by proteasome.
63
Methylation
Inhibits genes by inducing the tight folding of chromatin
64
Acetylation
Promotes gene expression by helping unfurl chromatin.
65
A-site
reads the codon and where the next amino acid waits its turn
66
P-site
where the amino acid is added to the rest of the chain
67
E-site
where the tRNA leaves the ribosome