BIOL1008 Final: Genetic Disorders Notes

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Human Genetics

Cells

Eukaryotic cell

oPlant/ animal cell

oIt has chloroplast and a cell wall

Unicellular organisms

oConsist of only one cell

oOne cell has to carry out all the necessary functions for survival

oUnicellular plants Euglena and

Chlorococcum

oParamecium is a unicellular protozoan

Multicellular organisms

oConsist of many cells

oDifferent cells have different functions, no

cell can survive on its own, but together they can fulfil all necessary functions

oJonquils are multicellular plants

oHumans are multicellular animals

Eukaryotes

oPlants and animals are eukaryotes and have special characteristics

oEukaryotic cells keep their genetic material in a membrane-bound nucleus

oHave cell membrane and membrane-bound organelles; mitochondria,

chloroplasts, nucleus

oThe genetic material (DNA) is stored in the cell nucleus

DNA

Deoxyribonucleic acid (DNA)

Made up of nucleotides

A nucleotide consists of a phosphate molecule, a sugar molecule

(deoxyribose) and a “base”

A DNA strand is lots of nucleotides joined together

The bases come in G, A, C or T which are all chemically different

oG- guanine

oC- cytosine

oT- thymine

oA-adenine

A strand of DNA can be thousands, millions, or billion nucleotides long

Each DNA strand has a complementary strand where every A is bonded to a T and C

to G

The combination of bases on a DNA strands is called its sequence

The two strands of DNA twist together to form the DNA double helix structure

Genes

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The particular sequence of bases on a piece of DNA

represents a 4-letter code

Genes are particular sections of DNA molecules which code

for particular proteins

Proteins consist of strings of amino acids

oThere are 20 different amino acids that can be used

to make proteins

oMany of these proteins are the building blocks that animals and plants are

made of e.g. keratin

oSome make important chemical processes work- e.g. enzymes

oE.g. albinism occurs as they cannot produce melanin as tyrosinase is not

being produced

Humans have about 25,000 genes

The DNA sequence of a gene determines the amino acid sequence of the protein it

codes for

Genetic code

oEvery 3 nucleotides is a codon

oCodons ‘spell out’ specific amino acids

oSometimes an amino acid can be ‘coded for’ by more than one 3-letter

combination (redundant)

Gene structure

oThe promoter determines where a gene is

active e.g. the insulin gene is only active in

the pancreas

oAnd when a gene is active e.g. the alcohol dehydrogenase gene is turned on

when you drink alcohol

oMany growth genes are turned on and off in different tissues during

embryonic development- Cancer

Genetic Variation

Genetic variation within individuals and populations

oWe have two copies of every gene- one from our mother, the other from our

father

oDifferent forms of a gene are called alleles and have alternative phenotypes

oIn homozygotes, both copes of the gene are the same

oIn heterozygotes, they have two different alleles for a given gene

oSometimes alleles have a dominant/ recessive relationship such that a

dominant allele may mask the phenotype of a recessive allele

Genetic variation among populations

oDifferent populations of people that have not historically interbred often

have different frequencies of alleles

oThis is most noticeable in characteristics like height, eye colour, skin colour,

curliness of hair

oMore importantly, alleles that cause disease are often limited to particular

ethnic groups, and so ethnicity is often relevant in the diagnosis of genetic

disease

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oIn different human populations, a given allele may be more or less common

Chromosomes

The genome consists of 4 billion nucleotides

These comprise 25,000 genes

There is 1.82m of DNA in every human cell nucleus

The human nucleus is 6m across

In order to divide, cells must temporarily compress their DNA into manageable

packages- called chromosomes

A chromosome consists of 2 identical halves (sister chromatids) as the

DNA in the cell has replicated in anticipation of cell division

Most plants and animals are diploid, which means they have two

copies of each chromosome- one from the male parent and the other

from the female parent

Humans have 46 chromosomes

Chromosomes are only visible during cell division

Centromere position

oChromosomes can be described on the basis of the

centromere position

oWhen there is a difference in arm length, the short

arm is referred to as the “p” arm, and the long arm

the “q” arm

Genes are always in the same place on our chromosomes

and can be accurately mapped using a range of techniques

Sex aneuploidies

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Document Summary

Eukaryotic cell: plant/ animal cell, it has chloroplast and a cell wall. Unicellular organisms: consist of only one cell, one cell has to carry out all the necessary functions for survival, unicellular plants euglena and. Multicellular organisms: consist of many cells, different cells have different functions, no cell can survive on its own, but together they can fulfil all necessary functions, jonquils are multicellular plants, humans are multicellular animals. A nucleotide consists of a phosphate molecule, a sugar molecule (deoxyribose) and a base . A dna strand is lots of nucleotides joined together. The bases come in g, a, c or t which are all chemically different: g- guanine, c- cytosine, t- thymine, a-adenine. A strand of dna can be thousands, millions, or billion nucleotides long. Each dna strand has a complementary strand where every a is bonded to a t and c to g. The combination of bases on a dna strands is called its sequence.

Related Questions

LAB MODULE: BASIC MICROSCOPY â STUDY HELP

The information in this document is helpful in preparing for the Basic Microscopy Pre-Lab Quiz on Canvas and the Basic Microscopy quiz on Late Nite Labs.

Instructions:

â¢ Go to your Late Nite Labs course site and click on the Basic Microscopy link. The lab manual content will appear on the right side of the screen.

â¢ PRINT and READ all of the information found in the Basic Microscopy lab manual.

â¢ Use the information to answer the following questions.

Questions

â¢ Fill in the remainder of the chart.

Objective Lens	Objective Magnification	Ocular Magnification	Total Magnification
Scanning	4X	10X	40X
Low Power	10X	10X
High Power	40X	10X
Oil Immersion	100X	10X

â¢ Do all organisms consist of more than one cell?

â¢ What is the structural and functional unit of living things? In other words, what is considered the basic building block of LIFE?

â¢ What three structures are found in the cells of ALL organisms, both prokaryotic and eukaryotic? You may have to look at the pictures of the cells in the Basic Microscopy lab manual content to find all three structures. Note: plasma membrane = cell membrane

â¢ List the major differences in prokaryotic cells and eukaryotic cells? Include the location of genetic material in a eukaryotic versus prokaryotic cell.

â¢ List the organelles found in a eukaryotic cell that are not found in a prokaryotic cell. You may have to look at the pictures of the cells in the Basic Microscopy lab manual content to find all of these.

â¢ In eukaryotic cells, genetic information is found in the form of DNA. Is this true for prokaryotic cells?

â¢ Are flagella and cell walls unique to eukaryotes? Why or why not?

â¢ The __________is the part of a cell that allows the movement of substances into and out of the cell and protects the cell from its environment.

â¢ The__________is a substance that contains all of the dissolved and suspended ions and other molecules needed to keep the cell alive.

â¢ A__________is an organelle that serves as the site of photosynthesis in a eukaryotic cell.

â¢ Some organisms have cells that contain a__________that gives the cell a more structured shape and strengthens the cell by osmotic pressure.

â¢ Describe dark field microscopy.

â¢ Describe phase contrast microscopy.

â¢ Why do scientists use dark field microscopy and phase contrast microscopy when studying prokaryotic cells?

â¢ How does phase contrast microscopy help scientists visualize difficult specimens?

â¢ Fill in the remainder of the chart. The organisms studied during this lab are: Amoeba, Spirogyra, cardiac muscle, and bacteria.

Structure	Function	Organisms Studied
Plasma Membrane		Amoeba, Spirogyra, cardiac muscle, and bacteria
Cytoplasm
Nucleus	Contains the genetic material of a eukaryotic cell
Chloroplast		Spirogyra
Cell wall

Question 1

The process by which RNA is synthesized using DNA as a template is â¦

Select one:

a. replication

b. transcription

c. translation

d. inspiration

Question 2

Which of the following occurs during meiosis but not mitosis?

Select one:

a. DNA condenses into chromosomes

b. nuclear envelop disappears

c. homologous chromosomes separate

d. sister chromatids separate

Question 3

Which part of the animal life cycle is haploid?

Select one:

a. gamete

b. zygote

c. sporophyte

d. spore

Question 4

Single celled eukaryotic organisms are â¦

Select one:

a. viruses

b. bacterial

c. archaea

d. protists

Question 5

Which type of cellular division results in the formation of diploid cells from a diploid parent cell?

Select one:

a. mitosis

b. meiosis

c. interphase

d. A and B but not C

e. all of the above

Question 6

A sequence of DNA that codes for a single protein is a â¦

Select one:

a. gene

b. ribosome

c. mRNA

d. none of the above

Question 7

Which of the following is characteristic of animals?

Select one:

a. heterotrophic

b. sexual reproduction

c. embryonic development

d. all of the above

Question 8

All genes have only two possible alleles.

Select one:

True

False

Question 9

The presence of membrane-bound organelles is characteristic of â¦

Select one:

a. prokaryotes

b. viruses

c. bacteria

d. eukaryotes

Question 10

What are the building blocks of proteins?

Select one:

a. fatty acids

b. amino acids

c. nucleic acids

d. all of the above

Question 11

During which phase of the cell cycle does DNA replication occur?

Select one:

a. Mitosis

b. Interphase

c. Meiosis

d. Replicosis

Question 12

Which of the following characteristic is shared among fungi and animals?

Select one:

a. autotrophic

b. heterotrophic

c. cell walls

d. absorb nutrients

Question 13

A error in DNA replication that goes unrepaired is a â¦

Select one:

a. chromosome

b. chromatid

c. mutation

d. none of the above

Question 14

Alternate forms of a gene are called ________.

Select one:

a. chromatids

b. chromosomes

c. ribosomal subunits

d. alleles

Question 15

The physical expression of a genotype is the phenotype.

Select one:

True

False

Question 16

In complete dominance, a heterozygous genotype results in â¦

Select one:

a. a recessive phenotype

b. a dominant phenotype

c. a third and unique phenotype

d. none of the above

Question 17

Which theory explains the evolution of eukaryotes from prokaryotes?

Select one:

a. phagocytosis

b. endosymbiosis

c. pinocytosis

d. none of the above

Question 18

Which scientist experimented with plants to describe patterns of inheritance?

Select one:

a. Mendel

b. Chase

c. Einstein

d. Watson

Question 19

Which cellular organelle contains aerobic cellular respiration?

Select one:

a. chloroplasts

b. mitochondria

c. nucleus

d. lysosome

Question 20

Which of the following statements is false?

Select one:

a. Haploid gametes are formed by meiosis

b. Mitosis forms genetically identical daughter cells

c. Mitosis results in the formation of four daughter cells from a single parent cell

d. Mitosis forms diploid daughter cells from a diploid parent cell

Question 21

The first forms of life on Earth were ________.

Select one:

a. plants

b. microorganisms

c. birds

d. dinosaurs

Question 22

Which of the following is used to separate chromosomes during nuclear division?

Select one:

a. cytoskeleton

b. microtubules

c. actin and myosin

d. amoeboid movement

e. all of the above

Question 23

Which generation is most dominant in more primitive plants?

Select one:

a. bryophyte

b. sporophyte

c. gametophyte

d. androphyte

Question 24

Which of the following is characteristic of plants?

Select one:

a. autotrophic

b. contain chloroplasts

c. multicellular

d. all of the above

Question 25

During which phase of mitosis do chromosome line up along the middle of the cell?

Select one:

a. prophase

b. metaphase

c. anaphase

d. telophase

Question 26

During which phase of mitosis does DNA condense into distinct chromosomes?

Select one:

a. prophase

b. metaphase

c. anaphase

d. telophase

Question 27

The process by which DNA is used as a template to make new DNA is â¦

Select one:

a. translation

b. replication

c. transcription

d. allocation

Question 28

Which of the following is characteristic of plant but not animal cells?

Select one:

a. chloroplasts

b. water vacuole

c. cell wall

d. all of the above

Question 29

Which meiotic division is most like mitosis?

Select one:

a. Meiosis I

b. Meiosis II

c. Meiosis III

d. Meiosis IV

Question 30

Which enzyme catalyzes replication?

Select one:

a. DNA polymerase

b. RNA polymerase

c. Ribosome

d. all of the above

Question 401 pts

Kinetic energy is the stored energy that can be used for motion.

True

False

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Question 411 pts

When an electron is transferred from one atom to another, and the two atoms are then electrically attracted to one another, a(n) ________________ bond is formed.

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Question 421 pts

Changing the number of ____________ of an atom would change the chemical properties of the atom.

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Question 431 pts

Forming molecules and breaking down molecules in biological organisms usually requires the use of _________ to help the reaction proceed faster.

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Question 441 pts

Organic molecules have a core composed of .

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Question 451 pts

The building blocks of carbohydrates are

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Question 461 pts

Water molecules crossing a membrane from high to low concentration is .

active transport

cell fate

facilitated diffusion

osmosis

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Question 471 pts

Choose the membrane molecule responsible for the passage of polar molecules and ions into and out of the cell.

phospholipids

transmembrane channel proteins

cell surface proteins

carbohydrate chains

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Question 481 pts

The simplest cells are .

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Question 491 pts

Which of the following membrane bound organelles are found inside bacterial cells:

nucleus

organelles are not found in prokaryotic cells

mitochondria

chloroplasts

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Question 501 pts

Which of the following is a specialized components of the cell, is associated with the rough endoplasmic reticulum, and is responsible for making proteins.

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Question 511 pts

Proteins are sorted, modified, and packaged by the _____________ and later transported to the outside of the cell.

ribosomes

golgi bodies (golgi apparatus)

nucleus

mitochondria

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Question 521 pts

Dehydration synthesis is a process of linking two smaller subunits together to form a polymer. Which of the following statements below is true of dehydration synthesis?

Oxygen is consumed.

A water molecule is removed from the molecules.

A water molecule is added to the molecules

Carbon dioxide is given off.

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Question 531 pts

Proteins are made up of _________ held together by peptide bonds.

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Question 541 pts

Which of the following gives an amino acid its properties?

NH2

R Group or functional group

COOH

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Question 551 pts

The final three-dimensional shape of a protein that includes the bonding of two or more polypeptide chains is call its _____ structure.

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Question 561 pts

How do DNA and RNA differ?

all statements are differences between DNA and RNA.

DNA is double stranded while RNA is single stranded.

They have different sugars.

Thymine is present in DNA but not in RNA.

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Question 571 pts

Which of the following is a component of a DNA nucleotide?

phosphate

a nitrogen containing base

All are components of a nucleotide.

5-carbon sugar

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Question 581 pts

Cell membranes are made up of several different types of molecules. Select the membrane molecule below that is made up of a polar region and two non-polar fatty acid tails.

transmembrane proteins

carbohydrate chains

phospholipids

cell surface proteins

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Question 591 pts

Two organelles which are believed to have once been free-living bacterial cells are ____________ and ______________.

chloroplasts and mitochondria

golgi apparatus and endoplasmic reticulum

ribosomes and nucleolus

peroxisomes and lysosomes

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