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chapter 15.3 human genome Flashcards

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1
Q

Restriction Enzyme

A

A protein that cuts DNA at a specific sequence of bases (e.g., GAATTC). Used to break DNA into manageable pieces.

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2
Q

Sticky Ends

A

Single-stranded overhangs left after DNA is cut by restriction enzymes; help DNA fragments bond together.

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3
Q

Gel Electrophoresis

A

A lab technique that separates DNA fragments by size using electricity through a gel. Smaller pieces move faster.

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4
Q

DNA Sequencing

A

Process that determines the exact order of DNA bases (A, T, C, G), often using fluorescent dyes.

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5
Q

Shotgun Sequencing

A

A method of sequencing where DNA is cut into random fragments, sequenced, then assembled using computers.

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6
Q

Nanopore Sequencing

A

Modern sequencing method where DNA passes through a tiny pore and is identified by electrical signals.

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7
Q

SNP (Single Nucleotide Polymorphism)

A

A single base-pair difference in the DNA of individuals. Occurs roughly every 1 in 1200 bases. Important for genetic testing.

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8
Q

Human Genome Project (HGP)

A

Global project (1990–2003) to map and sequence all human DNA. Discovered humans have about 20,000 genes.

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9
Q

Gene

A

A sequence of DNA that codes for a protein.

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10
Q

Genome

A

The full set of genetic material in an organism, including both coding and noncoding regions.

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11
Q

Coding DNA

A

DNA that contains genes and instructions for making proteins. About 2% of the human genome.

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12
Q

Noncoding DNA

A

Does not make proteins but can regulate genes or have unknown roles. Makes up the majority of our genome.

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13
Q

Transposons (Jumping Genes)

A

DNA segments that can move to new positions within the genome. Often make up repetitive DNA.

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14
Q

Repetitive DNA

A

DNA sequences that appear many times in the genome. Function is often unknown.

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15
Q

Genomic Imprinting

A

Only one copy of a gene is expressed depending on whether it comes from the mother or father.

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16
Q

Angelman Syndrome

A

Disorder from deletion of maternal chromosome 15. Father’s copy is imprinted and inactive.

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17
Q

Prader-Willi Syndrome

A

Disorder from deletion of paternal chromosome 15. Mother’s copy is imprinted and inactive.

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18
Q

Epigenetics

A

Study of how chemical modifications (like methylation) affect gene expression without changing DNA sequence.

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19
Q

GINA (Genetic Information Nondiscrimination Act)

A

U.S. law (2008) that prevents discrimination based on genetic info by employers or insurers.

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20
Q

Personal Genome

A

An individual’s complete DNA sequence; used for personalized medicine and ancestry.

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21
Q

Fluorescent Dyes

A

Used in DNA sequencing to label bases with colors: A, T, C, and G each glow a different color.

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22
Q

Band Pattern (in Gel)

A

Visual output of electrophoresis showing DNA fragments separated by size.

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23
Q

Computational Biology

A

The use of computer algorithms to process and analyze biological data like DNA sequences.

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24
Q

How are SNPs useful?

A

They help identify genetic predispositions to diseases and personalize medical treatments.

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25
Why do smaller DNA fragments travel farther in a gel?
Because they encounter less resistance moving through the gel matrix.
26
How much of the human genome codes for proteins?
Only about 2% of the genome is coding DNA.
27
What is the size of the human genome?
Approximately 3 billion base pairs.
28
Why doesn’t more DNA mean more complexity?
Some simpler organisms have more DNA, but much of it is repetitive or nonfunctional.
29
What does gel electrophoresis measure?
It separates DNA fragments by length, producing distinct bands for analysis.
30
What is the purpose of the Human Genome Project?
To sequence the entire human genome and identify all human genes.
31
How is genomic data used in medicine?
To detect genetic disorders, customize drug treatments, and predict disease risks.
32
What are ethical concerns about genome sequencing?
Privacy, potential discrimination, and misuse of personal genetic data.
33
Should genome editing (e.g. CRISPR) be regulated?
Yes, due to risks of unintended consequences and ethical implications.
34
Q: What technique is used to cut DNA into smaller pieces for analysis?
A: Restriction enzymes.
35
Q: What allows scientists to read base sequences using color?
A: Fluorescent dye-labeled nucleotides.
36
Q: Which law prevents discrimination based on your genetic test?
A: The Genetic Information Nondiscrimination Act (GINA).
37
Q: What is a potential consequence of a point mutation?
A: It could change an amino acid in a protein or be silent.
38
Q: How do computers help in genome sequencing?
A: They align and reassemble short DNA sequences into a full genome.
39
Q: Why is Tay-Sachs testing important for some couples?
A: If both are carriers, their child has a 25% chance of inheriting the disorder.
40
Q: What is the purpose of DNA electrophoresis?
A: To separate DNA fragments by size for analysis or identification.
41
Why do we sequence DNA?
To understand gene structure, diagnose diseases, and develop targeted treatments.
42
Why is gel electrophoresis important?
it helps separates DNA fragments for fingerprinting, sequencing, and comparing genetic samples.
43
EcoRI
G↓AATTC — Cuts between G and A. Origin: E. coli. Creates sticky ends. Very commonly used.
44
HindIII
A↓AGCTT — Cuts between A and A. From Haemophilus influenzae. Creates sticky ends.
45
BamHI
G↓GATCC — Cuts between G and G. From Bacillus amyloliquefaciens. Sticky ends.
46
NotI
GCGGCCGC — Cuts in the middle. From Nocardia otitidiscaviarum. Recognizes a long, rare sequence.
47
PstI
CTGCA↓G — Cuts between A and G. From Providencia stuartii. Creates sticky ends.
48
SmaI
CCC↓GGG — Cuts in the middle. Creates blunt ends (no overhangs).
49
XhoI
C↓TCGAG — Sticky ends. From Xanthomonas species.
50
AluI
AG↓CT — Cuts between G and C. Creates blunt ends. Common for small fragments.
51
TaqI
T↓CGA — From Thermus aquaticus. Sticky ends. Works at high temperatures.
52
DpnI
Gm6ATC — Cuts methylated DNA only. Used in mutagenesis experiments.
53
Agarose Gel Electrophoresis
A method used to separate DNA or RNA fragments by size using a gel made from agarose (a seaweed-derived polysaccharide).
54
What is agarose?
A sugar-based substance from seaweed that forms a gel with pores large enough for DNA and RNA to pass through.
55
What does agarose gel electrophoresis separate?
It separates nucleic acids (DNA and RNA) based on size; smaller fragments move farther.
56
Why does DNA move through an agarose gel?
DNA is negatively charged and moves toward the positive electrode during electrophoresis.
57
SDS-PAGE
A method used to separate proteins by size using polyacrylamide gel and SDS (a detergent that gives proteins a negative charge).
58
What is SDS?
Sodium Dodecyl Sulfate – a detergent that unfolds proteins and coats them with a uniform negative charge.
59
What is PAGE?
Polyacrylamide Gel Electrophoresis – a tight gel with small pores used to separate proteins with high resolution.
60
Why do we use SDS in protein electrophoresis?
It removes protein shape and charge differences so they are separated only by size.
61
Agarose vs SDS-PAGE
Agarose separates DNA/RNA; SDS-PAGE separates proteins. Agarose has larger pores, SDS-PAGE uses tighter gels.
62
What molecules are run in SDS-PAGE?
Proteins – after being treated with SDS to equalize their charge.
63
What molecules are run in agarose gel?
Nucleic acids – typically DNA or RNA.
64
What are some benefits of using the sanger sequencing?
Some benefits of Sanger sequencing include: High accuracy for determining DNA base order. Reliable for small sequences (e.g., single genes). * Useful for confirming mutations or variations found by faster methods.
65
What were the three major steps in sequencing the human genome?
1. **Cut DNA into fragments** using restriction enzymes. 2. **Sequence each fragment** using methods like dye-labeled bases. 3. **Assemble the sequences** using computers to align overlapping regions.

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