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biochem 2 > Moelcular Medicine I > Flashcards

Moelcular Medicine I Flashcards

1
Q

what the 2 phases of genetic analysis of a disease

A

find a correlation between amuattion an da diseae

detect or predicting a disease

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2
Q

when is DNA sequencing most useful

A

where the exact nature of the disase causing muation is known

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3
Q

limits to DNA sequencing

A

genes are large and complex, some of the mautions may not be connected to the disease at all

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4
Q

indirect methods advantage

A

require no knowledge about the exact nature of the muation as long as the genomic locus of the mutant allele is known

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5
Q

limits to indirect methods

A

good polymorphic markers are scarce. and you could not be looking in the right place

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6
Q

the complete human genome consists of how many basepairs

A

3 billion

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7
Q

WGS

A

looking at the whole genome

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8
Q

WES

A

only looks at the exons

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9
Q

SNP typing

A

looking just at SNPs which are the areas that are actually different between people

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10
Q

wha tis the narrowest approach to sequcning

A

just look at the SNPs that have been assocaited with a health risk

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11
Q

limiations to seuqncing

A
  • doesn’t show on which chromsome the muation is

- does not show if they have a deletion of a duplicatio nof a chromsomal region

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12
Q

copy number variation (CNV)

A

observation that chromsomal regions can be present in non-diploid states

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13
Q

most CNVs are what

A

benign polymorphisms

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14
Q

how do you do comparative genome hybridization

A

take sample of single stranded genomic DNA from pt and control. label with die, mybrize to metaphase chromosomes. CNV becomes evident by uneven labeling of template chromsome

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15
Q

FISH

A

allows ID of a chromosomal lobus on a metaphase chromosome by hybridation with a specific flouorescent probe

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16
Q

how do you do PCR

A
  1. denature template DNA
  2. annel primers
  3. polymerase synthesizes complmentary strand
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17
Q

how does PCR detect genetic polymorphisms

A

when using ASOs, only mutant alleles will be amplied

insertions or deletions become immediately obvious

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18
Q

how do you do real time PCR

A
  • the amoun tof amplified DNA is measured after each cycle
  • determine how many cycles of amplification are required
  • high number of templant molecules, fewer cycles will be required to reach the threshold
  • templant amount is quantified by the number of cycles required to reach threshold
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19
Q

what is reverse transcriptase PCR used for

A

retroviral load in blood samples (HIV)

expression of oncogenes, and tumor suppressor genes in cancer cells

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20
Q

ASOs

A

tool to detect single nucletotide polymorphisms and mutations

21
Q

what does ASP require

A

detailed knowledge about the nucletodie sequence of the gene under studyy

22
Q

because oligonucleotide primers are short they anneal only to gerions of ______

A

high sequence complmentarity

23
Q

mutant allele in aickle cell

A

AT exchange in codon 6 of beta globin gene

24
Q

DNA microarrays

A

thousands of oligonucletodie spots printed on an inch paper. use for genetic screening

25
Q

the differences in individual drug responses result from what

A

genetic polymorphisms

26
Q

goal of pharmacogeomics

A

find the polymorphisms taht affect drug responses in order to work out an indvidual drug treatment plan

27
Q

what is malignant hyperthermia

A

rare, authosomal disoder that is the leading cause of deal during anesthesia

28
Q

what happens when someone with malignant hyperthermia goes under anthestia

A

calcium gets released from muscle cells leading to life threatening episodes of uncontrolled muscel contraction

29
Q

what causes malignant hyperthermia

A

mutation in ryanodine-receptor (RYR1) gene coding fo rmuscel cell membrane ion channel

30
Q

individual response to warfarin is determined by what 2 enzymes

A
  • gene for detoxifying P450 protein causing slow metabolism of drug
  • mutation in vitamin K epoxide reductase
31
Q

polymorphism in gene for detoxifying P450 protein causes what

A

higher senstivity to warfarin

32
Q

mutation in vitamin K epoxide reductase complex (VKORC1) leads to waht

A

higher warfarin toelrance

33
Q

how are fetal cells sampled

A

amniocentesis

chorionic villus sampling

34
Q

amniocentesis

A

amniotic fluid is withdrawn at 15/16 weeks gestation

35
Q

chorionic villus sampling

A

cells taken from chorion at 10-12 weeks gestation

36
Q

what condition might chonrionic villus sampling miss

A

mosaicism

37
Q

the specific bindign of antibodies to antigens is used to what

A
  • detect presence of antigen in sample
  • quantify amount of antigen in sample
  • localize antigens in vivo
38
Q

what produces antiboties

A

b lymphocytes

39
Q

how are polyclonal antibodies obtained

A

challenged an animal with intravenously injected antigen. , then after several days take blood

40
Q

how do you get monoclonal antiodies

A
  • inject mouse with protein
  • get spleen cells
  • fuse spleen celsl with myeloma cells grown in culture
  • select and grow hybrid cells
  • select and grow cells making desired antibody
41
Q

hybridoma cells

A

immortal and produce antibodies

42
Q

what is ELISA commonly used for

A

detecting PTH
HbA1c
c-reactive protein

43
Q

what do you use sandwich ELISA for

A

quantify an antigen

44
Q

What do you use indirect ELISA for

A

presence of antibodies

45
Q

What specific diseases is indirect ELISA used for

A

HIV

rheumatoid arthritis

46
Q

western blotting

A

technique that uses specific antibodies to indicate the molecular weight of a protein

47
Q

what is the advantage of western blotting over ELISA

A

you get better infromation about the antigen

48
Q

what do you use western blotting for

A

confirm diagnosis of HIV

diagnose parasite infections

biochem 2 (22 decks)

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