Central Dogma and Human Genome

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Questions and Answers

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 ______.

DNA, RNA, protein

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)?

<p>~1.5%</p> Signup and view all the answers

What percentage of the human genome is composed of repetitive DNA?

<p>~59%</p> Signup and view all the answers

What percentage of the human genome is composed of unique non-coding sequences?

<p>~39%</p> Signup and view all the answers

What percentage of the human genome is composed of unique non-coding sequences associated with genes?

<p>~24%</p> Signup and view all the answers

What percentage of the human genome is composed of unique non-coding sequences with unknown function?

<p>~15%</p> Signup and view all the answers

An individual's collection of alleles is known as their ______.

<p>genotype</p> Signup and view all the answers

A physical characteristic of an individual is known as their ______.

<p>phenotype</p> Signup and view all the answers

Regulatory sequences found immediately upstream of genes that help initiate transcription are known as ______.

<p>promoters</p> Signup and view all the answers

What is the DNA sequence that encodes a protein or functional RNA product called?

<p>Coding region or exon</p> Signup and view all the answers

What is the DNA sequence that does not encode a protein or a functional RNA product called?

<p>Non-coding region or intron</p> Signup and view all the answers

What type of gene is expressed in eukaryotes, with a single gene per mRNA transcript?

<p>Monocistronic</p> Signup and view all the answers

What type of gene is expressed in prokaryotes, with multiple genes per mRNA transcript?

<p>Polycistronic</p> Signup and view all the answers

Prokaryotes have linear DNA.

<p>False (B)</p> Signup and view all the answers

Human nuclear DNA is circular.

<p>False (B)</p> Signup and view all the answers

How does the size of the prokaryotic genome compare to the size of the human nuclear genome?

<p>The prokaryotic genome is approximately 1/1000 the size of the human nuclear genome.</p> Signup and view all the answers

Genes are ______ in the prokaryotic genome and ______ in the human nuclear genome.

<p>densely arranged, sparsely arranged</p> Signup and view all the answers

What type of DNA molecule is used for horizontal gene transfer in bacteria?

<p>Plasmids</p> Signup and view all the answers

Human nuclear genome is packaged with histones.

<p>True (A)</p> Signup and view all the answers

The human mitochondrial genome is circular and packaged with histones.

<p>False (B)</p> Signup and view all the answers

What is the name for short repeat sequences that occur one after another (head-to-tail)?

<p>Tandem repeats</p> Signup and view all the answers

What type of tandem repeat is found in centromeres and has a repeat length of 68-171 bp?

<p>Satellite DNA</p> Signup and view all the answers

What type of tandem repeat is found in telomeres and has a repeat length of 6-64 bp?

<p>Mini-satellite DNA</p> Signup and view all the answers

What type of tandem repeat has a repeat length of 2-4 bp?

<p>Micro-satellite DNA</p> Signup and view all the answers

Which tandem repeats are highly variable in length and are used for DNA fingerprinting?

<p>Micro-satellite DNA (B)</p> Signup and view all the answers

Longer repeat sequences that are distributed in different locations throughout the genome are known as ______.

<p>Interspersed repeats</p> Signup and view all the answers

Two types of interspersed repeats are ______ and ______.

<p>LINEs, SINEs</p> Signup and view all the answers

What are Alu elements classified as?

<p>SINEs (B)</p> Signup and view all the answers

What is the most abundant sequence in the human genome?

<p>Alu elements</p> Signup and view all the answers

What is the significance of Alu elements?

<p>Alu elements can cause chromosomal abnormalities due to unequal crossing over.</p> Signup and view all the answers

The human genome has ______ pairs of homologous chromosomes.

<p>23</p> Signup and view all the answers

The human genome has ______ pairs of autosomal chromosomes.

<p>22</p> Signup and view all the answers

The human genome has ______ pair(s) of sex chromosomes.

<p>1</p> Signup and view all the answers

Homologous chromosomes have the same gene order, but possibly different alleles.

<p>True (A)</p> Signup and view all the answers

Sister chromatids have the same gene order and identical DNA sequences.

<p>True (A)</p> Signup and view all the answers

The material which makes up chromosomes is known as ______.

<p>chromatin</p> Signup and view all the answers

The ends of chromosomes are known as ______.

<p>telomeres</p> Signup and view all the answers

What is the function of telomeres ?

<p>They protect chromosomes from shortening. (A)</p> Signup and view all the answers

What is the long arm of a chromosome called?

<p>q-arm (B)</p> Signup and view all the answers

The region where sister chromatids connect is known as the ______.

<p>centromere</p> Signup and view all the answers

The region in bacterial cells that contains the chromosome and is not enclosed by a membrane is called the ______.

<p>nucleoid</p> Signup and view all the answers

Which technique separates molecules based on their size and charge?

<p>Gel electrophoresis (D)</p> Signup and view all the answers

In gel electrophoresis, negatively charged molecules move towards the anode.

<p>False (B)</p> Signup and view all the answers

What is the name of the enzymes that digest DNA by cleaving phosphodiester bonds between nucleotides?

<p>DNA nucleases</p> Signup and view all the answers

What type of nuclease digests DNA from a free end?

<p>Exonucleases (B)</p> Signup and view all the answers

What type of nuclease digests DNA at an internal site?

<p>Exonucleases (A)</p> Signup and view all the answers

Restriction endonucleases cut DNA at specific ______.

<p>restriction sites</p> Signup and view all the answers

Restriction sites usually consist of ______ sequences and have a length of 4, 6, or 8 bp or longer (even numbers only).

<p>palindromic</p> Signup and view all the answers

Hybridization refers to the annealing of a ______ of DNA to a ______ of ______ DNA molecule.

<p>single strand, complementary strand, another</p> Signup and view all the answers

Stringency refers to:

<p>The degree to which mismatches are tolerated in hybridization. (B)</p> Signup and view all the answers

What are DNA sequence variants that result in an alteration of a genomic restriction fragment called?

<p>Restriction fragment length polymorphisms (RFLPs)</p> Signup and view all the answers

What are the three blotting methods?

<p>Southern blotting, Northern blotting, and Western blotting</p> Signup and view all the answers

Which blotting technique uses a DNA probe to detect specific DNA sequences?

<p>Southern blotting (B)</p> Signup and view all the answers

Which blotting technique uses antibodies to detect specific proteins?

<p>Western blotting (C)</p> Signup and view all the answers

What type of inheritance pattern is sickle cell disease?

<p>Autosomal recessive (A)</p> Signup and view all the answers

What is the specific mutation that causes sickle cell disease?

<p>A point mutation in the HBB gene (encoding beta-globin) that results in the substitution of valine for glutamic acid at position 6.</p> Signup and view all the answers

What are the 3 primary clinical features of sickle cell disease?

<p>Hemolytic anemia, splenomegaly, and vascular occlusion in the form of a painful crisis</p> Signup and view all the answers

What are the four treatment/management strategies for sickle cell disease?

<p>Hydroxyurea, oxygen therapy, transfusions, and penicillin.</p> Signup and view all the answers

Sickle cell trait occurs in ______ of the sickle mutation.

<p>heterozygous carriers</p> Signup and view all the answers

Sickle cell trait is mostly symptomatic.

<p>False (B)</p> Signup and view all the answers

Under which conditions can sickle cell trait become symptomatic?

<p>All of the above (D)</p> Signup and view all the answers

The cell cycle consists of ______, ______, ______, and ______ phases.

<p>G1, S, G2, M</p> Signup and view all the answers

What is the purpose of the G1 phase?

<p>Growth and metabolism</p> Signup and view all the answers

The ploidy number (n) during the cell cycle is ______.

<p>2</p> Signup and view all the answers

The value of DNA content number (c) during G1 phase is ______.

<p>2</p> Signup and view all the answers

What happens to the DNA content number (c) during the S phase?

<p>It doubles.</p> Signup and view all the answers

What happens to the DNA content number (c) during mitosis?

<p>It halves.</p> Signup and view all the answers

When entering mitosis from G2, the ploidy number (n) is ______ and the DNA content number (c) is ______.

<p>2, 4</p> Signup and view all the answers

Each homologous chromosome pair entering mitosis has one ______ and one ______ chromosome.

<p>maternal, paternal</p> Signup and view all the answers

Each chromosome entering mitosis has two ______.

<p>identical sister chromatids</p> Signup and view all the answers

What happens during mitosis?

<p>Chromosomes are separated into two daughter nuclei, ensuring that each daughter cell receives one identical chromatid from each chromosome.</p> Signup and view all the answers

After mitosis, the ploidy number (n) is ______ and the DNA content number (c) is ______.

<p>2, 2</p> Signup and view all the answers

What is the end result of mitosis?

<p>Two genetically identical daughter cells</p> Signup and view all the answers

What is the purpose of meiosis?

<p>To generate haploid gametes.</p> Signup and view all the answers

Meiosis occurs only in the ______.

<p>germline</p> Signup and view all the answers

Flashcards

Central Dogma

The flow of genetic information from DNA to mRNA to proteins.

Genome

The complete set of genetic material present in an organism.

Genes

Segments of DNA that code for specific proteins or RNAs.

Exons

Coding sequences of DNA that remain in mature mRNA.

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Introns

Non-coding sequences of DNA interspersed between exons.

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Eukaryotic Genes

Genes that are monocistronic and have a complex structure.

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Prokaryotic Genes

Genes that are polycistronic and can encode multiple proteins.

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Plasmids

Small circular DNA molecules in prokaryotes used for gene transfer.

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Telomeres

End regions of chromosomes that protect against shortening.

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Gel Electrophoresis

Technique to separate DNA or RNA based on size.

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Exonucleases

Enzymes that cleave DNA from a free end.

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Endonucleases

Enzymes that cleave DNA at internal sites.

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Restriction Endonucleases

Enzymes that cut DNA at specific restriction sites.

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RFLPs

Variants that change genomic DNA restriction fragments.

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Cell Cycle Phases

Stages of cell growth and division: G1, S, G2, Mitosis.

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Mitosis

Process of cell division yielding genetically identical daughter cells.

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Meiosis

Process that generates haploid gametes from diploid cells.

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Sickle Cell Disease

Autosomal recessive disorder caused by a mutation in the HBB gene.

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Alleles

Different versions of a gene that vary by a few nucleotides.

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Wild-Type Allele

The most common allele for a gene in a population.

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Polymorphism

Less common allele that occurs in more than 1% of the population.

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Variant

Any change in DNA sequence that may or may not affect traits.

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Maternally Inherited

Genetic traits passed down from the mother.

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Sister Chromatids

Identical copies of a chromosome after DNA replication.

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Nucleoid

Region within prokaryotic cells containing the chromosome.

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DNA Fingerprinting

Method used to identify individuals based on DNA variations.

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Crossing-Over

Exchange of genetic material between homologous chromosomes during meiosis.

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Homologous Chromosomes

Chromosome pairs with the same structure but may have different alleles.

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Phenotype

The physical expression of a genotype in an individual.

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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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