topic 2 Flashcards

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1
Q

Gene

A

A segment of DNA on a chromosome that codes for a specific protein

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2
Q

Allele

A

Different forms of a gene

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3
Q

what does homozygous mean

A

Having two identical alleles for a particular gene

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4
Q

what does heterozygous mean

A

having two different alleles for a particular gene

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5
Q

what is a recessive allele

A

An allele that can only be expressed with the absence of a dominant allele

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6
Q

what is a dominant allele

A

An allele whose trait always shows up in the organism when the allele is present

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7
Q

what is the primary protein structure

A

sequence of amino acids bonded by covalent peptide bonds

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8
Q

what is the secondary protein structure

A

occurs when the sequence of amino acids are linked by hydrogen bonds

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9
Q

what is helix (secondary structure)

A

occurs when hydrogen bonds form between every 4 peptide bonds

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10
Q

what is pleated sheets (secondary structure)

A

forms when the protein folds so that two parts of the polypeptide chain are parallel to each other enabling hydrogen bonds to form between parallel peptide bonds

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11
Q

what is the tertiary protein structure

A

3D folding pattern of a protein due to side chain interactions

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12
Q

what is the quaternary protein structure

A

Occurs in proteins that have more than one polypeptide chain working together as a functional macromolecule

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13
Q

describe globular proteins

A

spherical, water-soluble proteins.

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14
Q

describe fibrous proteins

A

long, insoluble, structural proteins.

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15
Q

what is an enzyme

A

biological catalysts, globular proteins with complex tertiary structure, produced by protein synthesis

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16
Q

what is activation energy

A

the minimum amount of energy required to start a chemical reaction (enzymes lower activation energy)

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17
Q

what is the equation for rate of reaction

A

Amount of reactant used or amount of product formed / time taken

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18
Q

name the pyrimidines

A

cytosine, thymine, uracil

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19
Q

name the purines

A

Adenine and Guanine

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20
Q

what is a nucleotide

A

A building block of DNA, consisting of a five-carbon sugar covalently bonded to a nitrogenous base and a phosphate group

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21
Q

what is semi-conservative replication

A

half of the DNA is conserved and half of the DNA made is new

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22
Q

what are the enzymes involved in DNA replication

A

DNA helicase, DNA polymerase, DNA ligase

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23
Q

what does DNA helices do

A

An enzyme that unwinds the DNA double helix during DNA replication

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24
Q

what does DNA polymerase do

A

Enzyme involved in DNA replication that joins individual nucleotides to produce a DNA molecule

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25
Q

what does DNA ligase do

A

joins fragments of DNA together

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26
Q

what did Meselson and Stahl determine

A

Determined that DNA replication is semiconservative.

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27
Q

what is a DNA strand made of

A

deoxyribose sugar, ATCG bases, double strands

28
Q

what is a RNA stand made of

A

ribose sugar, AUCG bases, single strand

29
Q

m(RNA)

A

found in the nucleus, carries the message of how to make a protein to the ribosome

30
Q

t(RNA)

A

transfers amino acids from the cytoplasm to the ribosome

31
Q

r(RNA)

A

makes up ribosomes

32
Q

what is transcription

A

occurs in the nucleus, the process of making mRNA

33
Q

what is translation

A

uses the mRNA code to translate into a protein

34
Q

what is diffusion

A

movement of particles from high to low concentration

35
Q

what is facilitated diffusion

A

diffusion using a channel or carrier protein

36
Q

what is osmosis

A

movement of water from a low to high solute concentration, through a partially permeable membrane

37
Q

what is active transport

A

movement of particles from a low to high concentration against a concentration gradient

38
Q

what is endocytosis

A

process by which a cell takes material into the cell by infolding of the cell membrane

39
Q

what is exocytosis

A

Process by which a cell releases large amounts of material

40
Q

what is Fick’s law

A

rate of diffusion proportional to (surface area x concentration difference) / thickness of membrane

41
Q

what does the surface area to volume ration influence

A

how substances and heat energy can be transferred around multicellular organisms

42
Q

what are factors that affect diffusion

A

temperature, conc gradient, membrane SA, thickness of membrane, channel/ carrier proteins

43
Q

describe the cell membrane/ phospholipid bilayer

A

semi-permeable barrier, regulates transport in and out of the cell

44
Q

what is a phospholipid

A

triglycerides, but on fatty acid chain is replaced with a phosphate group, has a hydrophilic head

45
Q

what is a phospholipid bilayer made of

A

a thin polar membrane made of two layers of phospholipids, hydrophobic tails face inwards in order to not contact the water

46
Q

what is the fluid mosaic model

A

depicts other molecules that exist within the membrane, proteins(channel/carrier), glycoproteins, glycolipids, cholesterol

47
Q

eukaryotic vs prokaryotic DNA

A

eukaryotic= DNA is linear, found in membrane bound organelles
prokaryotic= DNA is circular, not enclosed in a membranous envelope. the DNA exists in plasmid DNA

48
Q

what is the genetic code

A

the combination of triplet codes in the genome.

49
Q

how is genetic code degenerate

A

some amino acids are encoded by more than one codon. the third bases can pair even though they are not complementary

50
Q

how is the genetic code universal

A

the same four bases are used I. the DNA of every organism. the same codons encode for the same amino acids in every organism. codons in the DNA are transcribed in mRNA

51
Q

how is the genetic code non-overlapping

A

there is no overlap between triplet codes. each triplet code is seperate from the other triplet codes in the chromosome

52
Q

what are amino acids (proteins) made up of

A

an R group, carboxylic acid, amino and a central carbon

53
Q

what is the biological role of an amino acid

A

structural, catalytic, signalling and immunological

54
Q

how do amino acids join together

A

a condensation reaction forms a peptide bond, one water molecule is released as a by product. this creates poly-peptide chains

55
Q

what is cystic fibrosis caused by

A

caused by a mutation in the gene that codes for the CFTR protein. this protein transports chloride ions out of the cel and into the mucus causing water to move into the mucus via osmosis, regulation mucus consistency

56
Q

what systems does cystic fibrosis effect

A

respiratory, digestive, reproductive

57
Q

how does it cystic fibrosis effect the respiratory system

A

mucus blocks cilia, meaning there’s a mucus build up in the airways. blocking them meaning gas exchange can’t take place

58
Q

how does cystic fibrosis effect the reproductive system

A

mucus can block the tubes connecting the testicles meaning that sperm can’t reach the penis. cervical mucus can prevent the sperm from reaching the egg

59
Q

how does cystic fibrosis effect the digestive system

A

the tube that connects the pancreas to the small intestine can become blocked, prevents digestive enzymes reaching the small intestine. reducing the ability to digest food, fewer nutrients can be absorbed.

60
Q

what are the three main uses for genetic screening

A

identifying carrier, preimplantation genetic diagnosis, prenatal testing

61
Q

what is carrier testing

A

is offered to individuals who have a family history of genetic disorders, it shows wether people without a disorder carry an allele that can cause a disorder.

62
Q

what is preimplantation genetic diagnosis (PGD)

A

carried out of IVF embryos, involves screening for genetic disorders before they are implanted to the women

63
Q

what are the two types of prenatal testing

A

amniocentesis and chorionic villus screening (CVS)

64
Q

what is amniocentis

A

carried out 15-20 weeks of pregnancy, a sample of amniotic fluid is obtained via the abdomen using a fine needle. the fluid contains DNA which can be analysed

65
Q

what is CVS

A

preformed 11-14 weeks of pregnancy, a sample of cells is taken from the chorionic villi, these cells can be analysed. the procedure is either done by the abdomen or the vagina

66
Q

what are ethical issues with genetic screening

A

can increase the risk of miscarriage, could produce false negatives and positives meaning people make a design on abortion based on wrong results, unethical to abort