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Pathophysiology > Chapter 2 - Genes And Genetic Diseases > Flashcards

Chapter 2 - Genes And Genetic Diseases Flashcards

1
Q

DNA—> double helix model

A

Two strands held together with hydrogen bonds

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2
Q

Two basic components of DNA

A

-backbone: deoxyribose-phosphate molecules

-four types of nitrogen bases: thymine, adenine, guanine and cytosine

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3
Q

Purpose of ANTIPARALLEL strands

A

-one strand serves as template for production of second strand

POSITIVE strand is template for making NEGATIVE strand

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4
Q

Strand is broke starting at

A

Replication fork

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5
Q

Hydrogen bonds form between

A

New complementary nucleotides

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6
Q

Overall result of replication

A

Two identical copies of original DNA

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7
Q

Pyrimidines

A

Single carbon nitrogen rings
-cytosine
-thymine

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8
Q

Purines

A

Double carbon-nitrogen
-adenine
-guanine

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9
Q

Nucleotide

A

Each DNA subunit consists of one deoxyribose molecule, one phosphate group and one base

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10
Q

Codon

A

Each three sequential nitrogen bases are a code for a specific amino acid

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11
Q

The body contains how many different types of amino acids?

A

20

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12
Q

A protein is composed of

A

Specific combination of amino acids

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13
Q

Process of DNA into proteins

A

-DNA is TRANSCRIBED into mRNA

-mRNA is TRANSLATED into proteins by ribosomes

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14
Q

Nitrogen bases

A

Forms organisms genetic instructions
-language of the cells instructions for what proteins to make

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15
Q

Proteins are composed of…which is composed off…etc

A

Proteins = polypeptides = amino acids = codons

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16
Q

DNA coding and template strands divide…

A

Short RNA strand moves over template strand and appropriate amino acids are constructed on RNA strand

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17
Q

The sequence of amino acids on RNA account for

A

A recipe for specific proteins

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18
Q

RNA travels

A

Out of nucleus to the ribosome where it makes the proteins
-now considered mRNA (messenger)

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19
Q

MRNA

A

Is the messenger for delivering the DNA’s recipe for a new proteins to the ribosome

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20
Q

How is RNA different than DNA

A

The sugar molecule is ribose rather than deoxyribose
-uracil replaces thymine
-single strand

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21
Q

Transcription

A

Synthesis of mRNA from a DNA template

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22
Q

TRNA

A

Transfer RNA
-transport anticodon amino acids to ribosome
-base pairs with mRNA codon
-string of anticodons form polypeptide

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23
Q

Ribosome translates

A

Sequence into polypeptide protein

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24
Q

Mitosis vs meiosis

A

Mitosis —> produce two identical 2n daughter cells

Meiosis—>four genetically unique n daughter cells

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25
Q

Autosomes

A

22 chromosomes homologous in females and males

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26
Q

Gene splicing

A

RNA sequences removed by nuclear enzymes and remaining sequences are spliced together to form the functional mRNA

-introns spliced
-exons kept for code

27
Q

Mutation occurs during

A

DNA replication

28
Q

Substitution

A

one nucleotide is replaced by a different nucleotide, only one amino acid is changed
=new amino acid

Eg -sickle cell anemia

29
Q

Insertion

A

Insertion of new inappropriate nucleotide, which changes all amino acids afterwards
=multiple new amino acids

30
Q

Deletion

A

Appropriate nucleotide removed
=multiple new amino acids

Eg -cystic fibrosis

31
Q

Mutation =

A

Evolution

32
Q

If mutation provides no benefit to environment =

A

No evolution

33
Q

If mutation provides negative benefit to environment =

A

Extinction

34
Q

If mutation provides a positive benefit to environment =

A

Becomes dominant in environment

35
Q

Base pair substations

A

One pair replaces another base pair
-result in change of one amino acid

-considered silent mutation (may cause change, but most of the time doesn’t change aa sequence)

36
Q

Missense

A

Produce a change in a SINGLE amino acid
-base pair substitutions

37
Q

Nonsense

A

Produce one of three STOP CODONS
-UAA, UAG, UGA

Produce premature stop codon and terminate translation of the polypeptide

38
Q

Frameshift mutations

A

Insertion or deletion of one or more base pairs
-greatly alter amino acid sequence

-causes dramatic change in protein produced at ribosome

39
Q

Mutagens

A

Increase the frequency of mutations by altering DNA
-radiation, chemicals, nitrogen mustard

40
Q

Genotype versus phenotype

A

Genotype = refers to genetic material passed between generations (genetic code)

Phenotype = observable characteristics or traits of an organism (physical expression)

41
Q

Autosomal Dominant Inheritance

A

Autosomal= gene in question is located on one of the numbered or non sex chromosomes

Dominant= single copy of disease associated mutation is enough to cause disease

42
Q

Autosomal Recessive Inheritance

A

Autosomal= gene is located on one of the numbered or non sex chromosomes

Recessive= two copies of mutation is required to cause disease

43
Q

X linked inheritance

A

-gene carried by mother
Female children (XX) = become carriers (1)
Male children (XY) = become affected (2)

44
Q

Polygenic traits

A

Traits affected by more than one gene
-skin colour, hair colour

45
Q

Predisposing

A

Inc probability that the disease will occur

46
Q

Precipitating

A

Trigger the disease
-condition that causes disease

47
Q

Epidemiology

A

The study of Tracking patterns of disease occurrence

48
Q

Idiopathic

A

Unknown cause, and spontaneous origin

49
Q

Latrogenic

A

Result of treatment
-hair loss from chemo

50
Q

Remission

A

Symptoms disappear or diminish

51
Q

Exacerbation

A

Sudden inc in severity of symptoms

52
Q

Complication

A

Medical problem occurs during disease, or after a procedure/treatment

53
Q

Morbidity

A

Condition of being diseased
Co-morbidity = multiple disorders occurring at same time

54
Q

Prevelance

A

Indicates all current cases of the disease
-does not differentiate between old and new cases`

55
Q

Incidence

A

Indicates number of new cases

56
Q

Short term diseases —> incidence and prevalence

A

Incidence and prevalence stay the same year after year

57
Q

Chronic diseases prevelance and incidence

A

Prevalence : tends to increase yearly

Incidence: stays the same

58
Q

Syndrome

A

Group of signs and symptoms which occur together and characterize a particular abnormality or condition

59
Q

disorder

A

Abnormality of function

60
Q

Ethology

A

Cause of disease

61
Q

Ribosome subunits join with

A

MRNA

62
Q

Transfer RNA molecules transport

A

Anticodon amino acids to ribosome

63
Q

Anticodon base pairs with

A

MRNA codon (amino acid)

64
Q

String of anticodons form a

A

Polypeptide (protein chain)

Pathophysiology (20 decks)

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