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Questions and Answers
What is the function of proteins?
What is the function of proteins?
- They store information.
- They carry out cellular functions. (correct)
- They control the rate of chemical reactions.
- They carry genetic information.
The central dogma of molecular biology describes the flow of genetic information from ______ to ______ to ______.
The central dogma of molecular biology describes the flow of genetic information from ______ to ______ to ______.
DNA, RNA, protein
What is the complete set of genetic material present in an organism called?
What is the complete set of genetic material present in an organism called?
Genome
What percentage of the human genome is composed of protein-coding sequences (exons)?
What percentage of the human genome is composed of protein-coding sequences (exons)?
What percentage of the human genome is composed of repetitive DNA?
What percentage of the human genome is composed of repetitive DNA?
What percentage of the human genome is composed of unique non-coding sequences?
What percentage of the human genome is composed of unique non-coding sequences?
What percentage of the human genome is composed of unique non-coding sequences associated with genes?
What percentage of the human genome is composed of unique non-coding sequences associated with genes?
What percentage of the human genome is composed of unique non-coding sequences with unknown function?
What percentage of the human genome is composed of unique non-coding sequences with unknown function?
An individual's collection of alleles is known as their ______.
An individual's collection of alleles is known as their ______.
A physical characteristic of an individual is known as their ______.
A physical characteristic of an individual is known as their ______.
Regulatory sequences found immediately upstream of genes that help initiate transcription are known as ______.
Regulatory sequences found immediately upstream of genes that help initiate transcription are known as ______.
What is the DNA sequence that encodes a protein or functional RNA product called?
What is the DNA sequence that encodes a protein or functional RNA product called?
What is the DNA sequence that does not encode a protein or a functional RNA product called?
What is the DNA sequence that does not encode a protein or a functional RNA product called?
What type of gene is expressed in eukaryotes, with a single gene per mRNA transcript?
What type of gene is expressed in eukaryotes, with a single gene per mRNA transcript?
What type of gene is expressed in prokaryotes, with multiple genes per mRNA transcript?
What type of gene is expressed in prokaryotes, with multiple genes per mRNA transcript?
Prokaryotes have linear DNA.
Prokaryotes have linear DNA.
Human nuclear DNA is circular.
Human nuclear DNA is circular.
How does the size of the prokaryotic genome compare to the size of the human nuclear genome?
How does the size of the prokaryotic genome compare to the size of the human nuclear genome?
Genes are ______ in the prokaryotic genome and ______ in the human nuclear genome.
Genes are ______ in the prokaryotic genome and ______ in the human nuclear genome.
What type of DNA molecule is used for horizontal gene transfer in bacteria?
What type of DNA molecule is used for horizontal gene transfer in bacteria?
Human nuclear genome is packaged with histones.
Human nuclear genome is packaged with histones.
The human mitochondrial genome is circular and packaged with histones.
The human mitochondrial genome is circular and packaged with histones.
What is the name for short repeat sequences that occur one after another (head-to-tail)?
What is the name for short repeat sequences that occur one after another (head-to-tail)?
What type of tandem repeat is found in centromeres and has a repeat length of 68-171 bp?
What type of tandem repeat is found in centromeres and has a repeat length of 68-171 bp?
What type of tandem repeat is found in telomeres and has a repeat length of 6-64 bp?
What type of tandem repeat is found in telomeres and has a repeat length of 6-64 bp?
What type of tandem repeat has a repeat length of 2-4 bp?
What type of tandem repeat has a repeat length of 2-4 bp?
Which tandem repeats are highly variable in length and are used for DNA fingerprinting?
Which tandem repeats are highly variable in length and are used for DNA fingerprinting?
Longer repeat sequences that are distributed in different locations throughout the genome are known as ______.
Longer repeat sequences that are distributed in different locations throughout the genome are known as ______.
Two types of interspersed repeats are ______ and ______.
Two types of interspersed repeats are ______ and ______.
What are Alu elements classified as?
What are Alu elements classified as?
What is the most abundant sequence in the human genome?
What is the most abundant sequence in the human genome?
What is the significance of Alu elements?
What is the significance of Alu elements?
The human genome has ______ pairs of homologous chromosomes.
The human genome has ______ pairs of homologous chromosomes.
The human genome has ______ pairs of autosomal chromosomes.
The human genome has ______ pairs of autosomal chromosomes.
The human genome has ______ pair(s) of sex chromosomes.
The human genome has ______ pair(s) of sex chromosomes.
Homologous chromosomes have the same gene order, but possibly different alleles.
Homologous chromosomes have the same gene order, but possibly different alleles.
Sister chromatids have the same gene order and identical DNA sequences.
Sister chromatids have the same gene order and identical DNA sequences.
The material which makes up chromosomes is known as ______.
The material which makes up chromosomes is known as ______.
The ends of chromosomes are known as ______.
The ends of chromosomes are known as ______.
What is the function of telomeres ?
What is the function of telomeres ?
What is the long arm of a chromosome called?
What is the long arm of a chromosome called?
The region where sister chromatids connect is known as the ______.
The region where sister chromatids connect is known as the ______.
The region in bacterial cells that contains the chromosome and is not enclosed by a membrane is called the ______.
The region in bacterial cells that contains the chromosome and is not enclosed by a membrane is called the ______.
Which technique separates molecules based on their size and charge?
Which technique separates molecules based on their size and charge?
In gel electrophoresis, negatively charged molecules move towards the anode.
In gel electrophoresis, negatively charged molecules move towards the anode.
What is the name of the enzymes that digest DNA by cleaving phosphodiester bonds between nucleotides?
What is the name of the enzymes that digest DNA by cleaving phosphodiester bonds between nucleotides?
What type of nuclease digests DNA from a free end?
What type of nuclease digests DNA from a free end?
What type of nuclease digests DNA at an internal site?
What type of nuclease digests DNA at an internal site?
Restriction endonucleases cut DNA at specific ______.
Restriction endonucleases cut DNA at specific ______.
Restriction sites usually consist of ______ sequences and have a length of 4, 6, or 8 bp or longer (even numbers only).
Restriction sites usually consist of ______ sequences and have a length of 4, 6, or 8 bp or longer (even numbers only).
Hybridization refers to the annealing of a ______ of DNA to a ______ of ______ DNA molecule.
Hybridization refers to the annealing of a ______ of DNA to a ______ of ______ DNA molecule.
Stringency refers to:
Stringency refers to:
What are DNA sequence variants that result in an alteration of a genomic restriction fragment called?
What are DNA sequence variants that result in an alteration of a genomic restriction fragment called?
What are the three blotting methods?
What are the three blotting methods?
Which blotting technique uses a DNA probe to detect specific DNA sequences?
Which blotting technique uses a DNA probe to detect specific DNA sequences?
Which blotting technique uses antibodies to detect specific proteins?
Which blotting technique uses antibodies to detect specific proteins?
What type of inheritance pattern is sickle cell disease?
What type of inheritance pattern is sickle cell disease?
What is the specific mutation that causes sickle cell disease?
What is the specific mutation that causes sickle cell disease?
What are the 3 primary clinical features of sickle cell disease?
What are the 3 primary clinical features of sickle cell disease?
What are the four treatment/management strategies for sickle cell disease?
What are the four treatment/management strategies for sickle cell disease?
Sickle cell trait occurs in ______ of the sickle mutation.
Sickle cell trait occurs in ______ of the sickle mutation.
Sickle cell trait is mostly symptomatic.
Sickle cell trait is mostly symptomatic.
Under which conditions can sickle cell trait become symptomatic?
Under which conditions can sickle cell trait become symptomatic?
The cell cycle consists of ______, ______, ______, and ______ phases.
The cell cycle consists of ______, ______, ______, and ______ phases.
What is the purpose of the G1 phase?
What is the purpose of the G1 phase?
The ploidy number (n) during the cell cycle is ______.
The ploidy number (n) during the cell cycle is ______.
The value of DNA content number (c) during G1 phase is ______.
The value of DNA content number (c) during G1 phase is ______.
What happens to the DNA content number (c) during the S phase?
What happens to the DNA content number (c) during the S phase?
What happens to the DNA content number (c) during mitosis?
What happens to the DNA content number (c) during mitosis?
When entering mitosis from G2, the ploidy number (n) is ______ and the DNA content number (c) is ______.
When entering mitosis from G2, the ploidy number (n) is ______ and the DNA content number (c) is ______.
Each homologous chromosome pair entering mitosis has one ______ and one ______ chromosome.
Each homologous chromosome pair entering mitosis has one ______ and one ______ chromosome.
Each chromosome entering mitosis has two ______.
Each chromosome entering mitosis has two ______.
What happens during mitosis?
What happens during mitosis?
After mitosis, the ploidy number (n) is ______ and the DNA content number (c) is ______.
After mitosis, the ploidy number (n) is ______ and the DNA content number (c) is ______.
What is the end result of mitosis?
What is the end result of mitosis?
What is the purpose of meiosis?
What is the purpose of meiosis?
Meiosis occurs only in the ______.
Meiosis occurs only in the ______.
Flashcards
Central Dogma
Central Dogma
The flow of genetic information from DNA to mRNA to proteins.
Genome
Genome
The complete set of genetic material present in an organism.
Genes
Genes
Segments of DNA that code for specific proteins or RNAs.
Exons
Exons
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Introns
Introns
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Eukaryotic Genes
Eukaryotic Genes
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Prokaryotic Genes
Prokaryotic Genes
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Plasmids
Plasmids
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Telomeres
Telomeres
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Gel Electrophoresis
Gel Electrophoresis
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Exonucleases
Exonucleases
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Endonucleases
Endonucleases
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Restriction Endonucleases
Restriction Endonucleases
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RFLPs
RFLPs
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Cell Cycle Phases
Cell Cycle Phases
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Mitosis
Mitosis
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Meiosis
Meiosis
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Sickle Cell Disease
Sickle Cell Disease
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Alleles
Alleles
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Wild-Type Allele
Wild-Type Allele
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Polymorphism
Polymorphism
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Variant
Variant
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Maternally Inherited
Maternally Inherited
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Sister Chromatids
Sister Chromatids
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Nucleoid
Nucleoid
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DNA Fingerprinting
DNA Fingerprinting
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Crossing-Over
Crossing-Over
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Homologous Chromosomes
Homologous Chromosomes
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Phenotype
Phenotype
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Study Notes
Central Dogma
- DNA stores information
- Transcription: DNA copied to mRNA sequence
- mRNA carries information
- Translation: mRNA information used to make proteins
- Proteins carry out cellular functions
Genome
- Complete set of genetic material in an organism
- Contains genes that code for proteins/RNAs
- Structural, catalytic, or regulatory activities
Human Genome Composition
- Protein-coding (exons): ~1.5%
- Repetitive DNA: ~59%
- Unique non-coding sequences: ~39%
- Unique non-coding sequences associated with genes (introns & regulatory sequences): ~24%
- Unique non-coding sequences with unknown function: ~15%
Genes
- Code for one or more proteins/RNAs
- Can have structural, catalytic, or regulatory functions
- Some genes are monocistronic (encode one protein per gene)
- Some genes are polycistronic (encode multiple proteins per gene)
Regulatory Sequences
- Promoters: immediately upstream of genes
- Promoters are regulatory sequences
- Regulatory sequences located immediately upstream of genes
- Encodes proteins or functional RNA
- Exons: coding sequences
- Introns: non coding sequences that are interspersed between exons in mature mRNA sequences
DNA Sequence Organization
- Eukaryotic Genes - Monocistronic
- prokaryotic gene - polycistronic
- Eukaryotic Gene Structure: exons, introns, 5'UTR, 3'UTR , Promoter
- Prokaryotic gene structure : 5'UTR, Promoter, Continuous Coding Region, 3'UTR
- Prokaryotic DNA: circular
- Human Nuclear DNA: linear
- Gene arrangement in prokaryotic genome : dense , dense arrangement in prokaryotes and sparse arrangement in human genome
- Gene arrangement in human genome is Linear DNA organized into discrete chromosomes
- Human mitochondrial genome: circular, packaged without histones
- Plasmids: independent replication, horizontal gene transfer, bacteria use as a supplemental genome
- DNA information is copied to mRNA by transcription, then to proteins by translation
- Satellite DNA-Centromere
- Mini Satellite DNA - Telomeres
Genome Size Comparison
- Prokaryotic genome is significantly smaller than the human nuclear genome
Gene Structure and Types
- Satellite DNA Repeats: 68-171 bp (length); centromeres
- Mini-satellite DNA Repeats: 6-64 bp (length); telomeres; highly variable total repeat size, polymorphic
- Micro-satellite DNA Repeats (STRs): 2/3/4 bp (length), highly variable total repeat size, polymorphic
DNA Fingerprinting and Allele Tracking
- DNA markers created by comparing mini and micro satellite repeats can be used for identification
- Some genes may be tandem repeats
Telomeres
- Specialized mini-satellite DNA sequences
- At the ends of linear chromosomes
- Related to the aging process
Interspersed Repeats
- Longer sequences distributed throughout the genome
Types of Interspersed Repeats
- LINES and SINES
Gene Regulation
- Blotting Methods: Southern Blotting, Northern Blotting, Western Blotting use gel electrophoresis to separate and identify specific DNA sequences
- Gel electrophoresis separates DNA and RNA molecules based on their size or molecular weight
Mutations and Significance
- SNPs: single nucleotide polymorphisms which cause variation
- RFLPs
- Alu elements (SINES)
Human Chromosome Organization
- Autosomal chromosomes (22 pairs)
- Sex chromosomes (1 pair)
- Homologous chromosomes
Cell Cycle
- G1: growth and metabolism
- S: DNA replication
- G2: preparation for mitosis
- Mitosis: cell division
- Meiosis: formation of gametes
- Ploidy number (n): 2 during all phases
- DNA Content number (c)
Meiosis
- Formation of haploid gametes
- Germline cells only
- Meiosis I and II
- Crossing-over in Prophase I
- Homologous chromosome associations
Oogenesis vs. Spermatogenesis
- Oogenesis: begins during embryonic life, arrested at various stages
Numerical Chromosomal Abnormalities
- Polyploidy: changes in the number of complete chromosome sets (triploidy, tetraploidy)
- Aneuploidy: changes in the number of individual chromosomes (monosomy, trisomy)
Structural Chromosomal Abnormalities
- Deletions/insertions
- Duplications
- Inversions
- Translocations
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