Genetics Flashcards

1
Q

Define a cell:

A
  • Cells are the basic units of life in all living organisms
  • in some forms such as bacteria, a single cell constitutes an entire organism
  • Complex life forms, such as plants and animals are made up of billions of cells
  • An adult human can consist of billions of cells, all functioning in complex ways that promote the survival of the individuals
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2
Q

Define a prokaryote:

A

-Life on earth can be traced back 3.7 billion years to primordial cell form of prokaryotic cells.
-Single-celled organisms, with DNA, RNA, proteins and small molecules (no membrane bound nucleus)
Ex:// bacteria and blue green alage

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3
Q

Define a eukaryote:

A
  • Structurally more complex, appeared 1.2 billion years ago
  • Include all members of the plant and animal kingdom
  • membrane bound nucleus
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4
Q

What are the very important organelles (VIO)?

A
  • Organelles are structures found in the cytoplasm
  • Mitochondria: produce energy
  • Ribosome: manufacture proteins
  • Endoplasmic reticulum: synthesis and transport of lipids and membrane proteins
  • Nucleus: surrounded by the cytoplasm and membrane. Contains chromosomal DNA
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5
Q

Describe Somatic cells:

A
  • components of body tissue

- Diploid –carries full component of genome

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6
Q

Describe Gametes:

A
  • sex cells
  • haploid–one copy–1/2 compelement
  • ova produced in femal ovaries, sperm produced in male testes
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7
Q

Describe Zygote:

A

-union between sperm and egg. 23 chromosomes from mom, 23 chromosomes from dad. Total of 46

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8
Q

Define Exon

A
  • Protein coding region of DNA

- Exons are DNA segments transcribed into mRNA that code for specific amino acids.

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9
Q

Define Introns

A
  • Non protein coding regiod of DNA

- Introns are DNA sequences not expressed during protein synthesis.

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10
Q

What happens to chromosomes during mitosis and meiosis?

How might these processes affect genetic variation?

A

Like mitosis, meiosis is a form of eukaryotic cell division. However, these two processes distribute genetic material among the resulting daughter cells in very different ways. Mitosis creates two identical daughter cells that each contain the same number of chromosomes as their parent cell. In contrast, meiosis gives rise to four unique daughter cells, each of which has half the number of chromosomes as the parent cell. Because meiosis creates cells that are destined to become gametes (or reproductive cells), this reduction in chromosome number is critical — without it, the union of two gametes during fertilization would result in offspring with twice the normal number of chromosomes!

Apart from this reduction in chromosome number, meiosis differs from mitosis in yet another way. Specifically, meiosis creates new combinations of genetic material in each of the four daughter cells. These new combinations result from the exchange of DNA between paired chromosomes. Such exchange means that the gametes produced through meiosis exhibit an amazing range of genetic variation.

Finally, unlike mitosis, meiosis involves two rounds of nuclear division, not just one.

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11
Q

Define Chromosome:

A
  • structure of nucleic acids and protein found in the nucleus of most living cells, carrying genetic information in the form of genes.
  • Humans have 23 (22 autosomes, 1 sex) get 23 from each parent that organize in homologous pairs.
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12
Q

Define a gene:

A

-a region of DNA that contains information needed to make a functional piece of RNA
Genes consist of a promoter region, exons and introns.
1)Promoter region which tells RNA polymerase where to bind to the DNA (not transcribed)
2) Exons are DNA segments transcribed into mRNA that code for specific amino acids.
3) Introns are DNA sequences not expressed during protein synthesis.

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13
Q

Describe Telomeres:

A
  • A telomere is a region of repetitive nucleotide sequences at each end of a chromosome, which protects the end of the chromosome from deterioration or from fusion with neighboring chromosomes.
  • Dolly the sheep had issues because she had a telomere length of a sheep that was 6 yrs old.
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14
Q

Describe alleles:

A

-AN ALTERNATE FORM OF A GENE
-Humans have two copies or alleles of all autosomal
genes
-Alleles represent different DNA coding of a gene
-Genetic variation is caused by changes in DNA code
-Some changes in the DNA coding do not cause functional changes in phenotype
EX: change from an A to a T produces sickle cell anemia

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15
Q

What is the difference between facultative and constituative?

A

Faculative= gets triggered to get expressed

constituative=always expressed

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16
Q

Describe Gene Structure:

A
  • Cellular function and an organism’s inheritance depends on the structure and function of DNA.
  • DNA is composed of two chains of nucleotides.
  • A nucleotide consists of a phosphate, a sugar, and one of four nitrogenous bases
17
Q

What do we do with DNA?

A
  • Replicate: make another copy and cell just like the original cell
  • Make proteins for a variety of body building blocks to run the machinery
18
Q

Describe the DNA Replication Process

A
  1. Enzymes break the bonds between the DNA molecule.
  2. Two nucleotide chains serve as templates for the formation of a new strand of nucleotides.
  3. Unattached nucleotides pair with the appropriate complementary nucleotide
  4. The result is two newly formed strands of DNA.
  5. Each new strand is joined to one of the original strands of DNA.
  6. This action is done in preparation for the formation of another identical cell in a process called MITOSIS
19
Q

Describe Proteins:

A
  • The major structural components of tissue.
  • Proteins differ according to number of amino acids and the sequence in which they are arranged.
  • Enzymes are proteins that serve as catalysts, initiating chemical reactions in the body.
  • Amino acids are the building blocks of protein.
  • Proteins differ according to number of amino acids and the sequence in which they are arranged
20
Q

Describe Protein Synthesis:

A
  • Ribosomes help convert the genetic message from the DNA into proteins.
  • Messenger RNA (mRNA) carries the genetic message from the cell nucleus to the ribosome.
  • Transfer RNA (tRNA), found in the cytoplasm, binds to one specific amino acid.
21
Q

Describe the differences in RNA and DNA

A

RNA differs from DNA in important ways:

  1. It’s usually single-stranded.
  2. It contains a different type of sugar.
  3. It contains the base uracil as a substitute for the DNA base thymine. (Uracil is attracted to adenine, just as thymine is.)
  4. It can leave the nucleus of the cell
22
Q

Describe transcription:

A
  • The process of coding a genetic message for proteins by formation of mRNA.
  • A portion of the DNA unwinds and serves as a template for the formation of a mRNA strand.
  • DNA template or “sense strand” Strand of messenger RNA (mRNA) is built making a strand of complementary strand
  • Strand exits nucleus through nuclear pores where it connects with ribosome
23
Q

Describe translation:

A
  • mRNA binds to ribosome, small particles of protein and rRNA
  • Ribosome sandwiches the mRNA
  • tRNAs arrive at the ribosome carrying their specific amino acids.
  • The base triplets (anticodons) on the tRNA match up with the codons on the mRNA.
  • As each tRNA line up in the sequence of mRNA codons their amino acids link to form a protein.
24
Q

Describe the assembly of the amino acid chain in protein synthesis:

A
  • As the ribosome binds to the mRNA, tRNA brings a particular amino acid, specified by the mRNA codon, to the ribosome.
  • The tRNA binds to the first codon while a second tRNA–amino acid complex arrives at the ribosome.
  • The ribosome moves down the mRNA, allowing a third amino acid to be brought into position by another tRNA molecule. Note that the first two amino acids are now joined together.
25
Q

Describe the Universal Genetic Code:

A
  • The DNA code of all life on earth is composed of the same molecules and carries on similar functions.
  • The universality of the genetic code implies a common ancestry for all life on the planet.
  • Organisms differ according to the arrangement of the DNA.
  • The code is a triplet code – with a built in redundancy
26
Q

Define Epigenetics

A
  • Development and inheritance in terms of the cross-talk between genetic information and the environment ( Waddington, 1942)
  • Mechanisms for cross-talk alter phenotypic development to manage an expected nutritional environment during fetal and early neonatal development
  • Mechanisms do not involve change of DNA sequencing – hence, they are epigenetic mechanisms altering gene expression
  • Marks of control on the gene which do NOT alter DNA sequencing
  • Possible transgenerational inheritance
  • These markings may include mechanisms through which interaction with the environment may influence gene expression
27
Q

How is eukaryotic DNA packaged?

A

-packaged with alkaline proteins called histones and are then organized into chromosomes

28
Q

Describe nutritional programming

A
  • DNA methylation archives information acquired from the maternal nutritional environment on the fetal genome in utero.
    1) Methyl group added at 5th carbon of cytosine in CpG dinucleotides
    2) Conduit between nutrient content and DNA methylation is one carbon-metabolic pathway
  • Regulates gene expression
  • Influences fetal development trajectory
  • Affects ultimate phenotypic adaptive capacity during the lifespan.
  • Patterns of methylation may be transgenerational, but also modified or reversible by diet
  • Result is less robust over time than DNA sequences, thus complicating studies in evolution
29
Q

What are the primary types of epigenetic programming?

A
  • Imprinting at conception: methylation erased on both sperm and egg prior to conception and methylation is replaced after conception (per parental patterning sex specific zygote). Maternal intake of methyl donors may impact methylation.
  • Fetal development: hypothesis that methylation during fetal development is affected by nutritional signaling and developmental plasticity is affected which suggests that fetal development tailored to meet the nutritional environment to which it develops.
30
Q

Describe difference between epigenetics and pathology

A
  • Epigenetics= vitamins, nutrition, drugs, estrogen disrupters, herbicides/pesticides.
  • Pathology= Reporductive Disorders, Growth disorders, pediatric disorders, imprinting disorders, cancer.
31
Q

How are humans an open system?

A

1) Humans = Complex OPEN SYSTEMS
2) We are affected by both external and internal environmental factors
3) We seek to maintain a homeostasis optimal to achieve cell differentiation, growth and development, maintenance and repair
4) We employ mechanisms to cope with vicissitudes of the environment
5) Deregulation of our communication and regulation = pathophysiology

32
Q

Compare and contrast DNA and RNA function

A

DNA: DNA replicates and stores genetic information. It is a blueprint for all genetic information contained within an organism
RNA: RNA converts the genetic information contained within DNA to a format used to build proteins, and then moves it to ribosomal protein factories.

33
Q

What are Mendel’s laws of inheritance

A

1) The Law of Segregation: Each inherited trait is defined by a gene pair. Parental genes are randomly separated to the sex cells so that sex cells contain only one gene of the pair. Offspring therefore inherit one genetic allele from each parent when sex cells unite in fertilization.
2) The Law of Independent Assortment: Genes for different traits are sorted separately from one another so that the inheritance of one trait is not dependent on the inheritance of another.
3) The Law of Dominance: An organism with alternate forms of a gene will express the form that is dominant.