Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

WK 4 > Genetic Testing Mastick > Flashcards

Genetic Testing Mastick Flashcards

1
Q

What was the first human gene cloned?

A

insulin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

genetechs first product?

A

human growth hormone

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

First genetically engineered drug approved by FDA?

A

Humulin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

A (blank) is the analysis of human DNA, RNA, chromosomes, proteins or metabolites in order to detect alterations related to a heritable disorder.

A

genetic test

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What are three biochemical genetic methodologies used for neonatal screening?

A

analyte, enzyme assays, protein analysis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What are 2 cytogenetic tests?

A

Karyotyping (Geimsa staining), FISH

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Every baby gets what?

A

a new born screening

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What do the new born screening tests screen for?

A

CF,endocrine, hemoglobin cond., metabolic conditions, anolytes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Why are 2 screening test done on babies?

A

because they want to have every baby testing but you get better results a week after birth so they do 2 just in case some babies parents dont bring the back

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

what does mass spectrometry do?

A

looks at thousand of analytes in blood

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What type of methods are direct DNA testing and Deletion/Duplication Analysis?

A

DNA-Based

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What is the website that geneticists go to?

What is the first line of genetic testing?

A

gene tests

family history and pedigree

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What does the gene test website have?

A

gene reviews, lab directory, clinic directory, illustrated glossary

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What is the process by which the nucleotide sequence is determined for a segment of DNA

A

Sequence Analysis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

An entire gene may be sequenced or, more commonly, (blank) of the gene most likely to contain mutations (exons and intron-exon boundaries) are sequenced.

A

only select regions

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

The way sequencing is done, you must first make a (blank)

A

template

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

To make a template in sequencing what do you use?

Why?

A

PCR

To amplify the exons and intron-exon boundaries

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What is the difficulty with DNA sequencing?

A

finding which ones are the disease causing mutations

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Sequencing a segment of DNA identifies most (blank) from the wild-type.

A

variations

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Testing for the presence of a specific mutation, a specific type of mutation, or set of mutations is called what?

A

targeted mutation analysis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What gives detection of variation at the DNA level. (sequencing, Southern blotting, PCR)

A

DNA testing

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What detects changes in transcription of specific genes (promotor mutations). Northern blotting, RT-PCR

A

RNA detection

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

What do you use to find hemoglobinapathies; changes in protein structure (charge or size).

A

Protein electrophoresis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

What uses antibodies to detect changes in protein abundance via ELISA, western blotting, immuno-histochemistry.

A

protein detection

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

What do you use to find inborn errors of metabolism (neonatal screening). Measure analytes, enzyme assays

A

Biochemical assays

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

What do you use to detect changes in chromosomes (# or structure). Spectral karyotyping, FISH, G-band karyotyping

A

cytogenetics

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Approx. (blank) DMD patients have a deletion of one or more exons.

A

2/3

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

what reveals allelic varients and cannot detect large deletions? Why?

A

sequence analysis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

What compares fragments of DNA to mutated DNA to find mutated genes and reduces the amount of DNA that needs to be sequences to find the mutation?

A

Mutation scanning

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

What detects deletions/duplications of an entire exon,multiple exon, or the whole gene.

A

Deletion/duplication analysis (copy number analysis)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

What are used to detect deletions/duplication analysis?

A

quanititative/real-time PCR, MLPA, SNP microarray

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

What is the use of PCR to determine the amount of DNA or RNA in a sample,commonly used to detect heterozygous deletion mutations and duplication mutations.

A

quantitative PCR

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

testing for hemizygous deletion mutations can be done by what?

A

standard PCR

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

What type of PCR must be used to detect heterozygous deletion mutations

A

quantitative PCR

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

What testing is used to confirm/rule out a genetic disorder in symptomatic individual?

A

diagnostic testing

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

What test is offered to asymptomatic individuals with a family history of genetic disorder?

A

predictive testing

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

What test is performed to identify individuals who carry a mutation for an autosomal or x-linked disorder?

A

Carrier testing

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

What test is performed during pregnancy to assess the health status of a fetus?

A

prenatal testing

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

What test is performed on early embryos resulting from in vitro fertilization?

A

preimplantation testing

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

What test is used to help identify individuals with genetic diseases to start treatment as soon as possible?

A

newborn screening

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

Wat detects RNA; size of intact mRNA molecule (intact) and abundance. Gene expression levels- promotor mutations.

A

Northern Blot

can only distinguish large differences, i.e. more than 100 bp

42
Q

What detects genomic DNA; usesrestriction enzyme digestion;is then transferred to nitrocellulose (blotting); bound with a specific probe for DNA of interest and then
Indicates size or presence of DNA fragments containing gene of interest?

A

Southern Blot

Can only distinguish large differences i.e. more than 100 bp

43
Q

PCR can distinguish what?

A

very small differences in size

44
Q

VNTR ploymorphisms with PCR is good for what?

A

Forensics!

45
Q

What causes muscular dystrophy?

A

defects in DMD

46
Q

what does becker muscular dystrophy exhibit?

A

allelic heterogeneity

47
Q

Approx. (blank) DMD patients have a deletion of one or more exons?

A

2/3

48
Q

Can PCR be used to detect female carriers?

A

no

49
Q

What detects point mutations?

A

sequence analysis

50
Q

What can be used for to detect deletions associated with carrier status if prior identification of mutation in the family?

A

quantitative PCR, or FISH

51
Q

Will females be mosaic for dystrophin expression in skeletal muscle?

A

NO, because cells are multinucleated and will not show up when searching for protein detection

52
Q

What are qualitative (SCA) and quantitative disorders of hemoglobin (all forms abab) called as a group?

A

hemoglobinopathies

53
Q

What are globin chain imbalances called?

A

Thalassemias

54
Q

What chain does SCA effect? WHat codon is effected? what amino acid is changed into what?

A

Beta chain, 6, glutamate to valine

55
Q

Every person with sickle cell disease has the same (blank)

A

point mutation

56
Q

How can you detect SCA or Sickle-C?

A

protein electrophoresis (often done as a neonatal screening)

57
Q

Normal hemoglibin on a protein electrophoresis will migrate how?

A

it will migrate closest to the positive do to the conserved glutamate. Abnormal wont be as high.

58
Q

What does direct DNA testing for SCA utilize to detect single base pair differences?

A

Allele Specific Oligonucleotides (ASO)

59
Q

If you run a ASO detection of SCA will it detect sickle-C?

A

No, it wil show up at SCA but wont differentiate between SCA and Sickle-c

60
Q

Are african american more likely to be carriers of alpha or beta thalassemias?

A

Alpha

61
Q

(blank) has no alpha, inclusion bodies of b4 form (HbH).

A

alpha thalassemias

62
Q

(blank) has no beta, precipitate of a4 forms

A

B thalassemias

63
Q

normal individuals have how many copies of alpha hemoglobin? How many copies of fetal? how may copies of Beta

A

4
2
2

64
Q

45% of all a thalassemias have what and are what?

A

are silent carriers have have one missing alpha chain

65
Q

20% of alpha thalassemia is missing what?

A

2 alpha chain genes on same chromosome and show trait

66
Q

5% of alpha thalassemia are homozygous how?

A

Both chromosomes are missing one alpha chain gene ( 2 alpha chain genes are missing)

67
Q

gradation and severity of alpha-thalassemia depends on what?

A

genotype

68
Q

20% of what ethnicity carry the –/aa allele and have alpha thalassemia trait (large deletion that covers both alpha genes)

A

southest asians

69
Q

45% of what ethnicity carry the allele a-/aa are considered silent carries that create one functional alpha

A

African Americans

70
Q

5% of who have two a-/a- and have alpha thalassemia triat.

A

African Americans

71
Q

What is moderate to marked anemia called and how many copies are lost?

A

Hemoglobin H disease

3 copies

72
Q

What is asymptomatic, but can be detected biochemically and results in reduced RBC size? How many copies are lost?

A

alpha thalassemia trait, and 2 copies are lost

73
Q

What is a type of alpha thalaessemia that is lethal and how many copies are lost?

A 
a0 thalassemia (Hb Barts, HYDROPS FETALIS)
loss of 4 copies
74
Q

What are the possible phenotypes of the beta globin gene?

A

Beta thalassemia minor, beta thalassemia trait, or beta thalassemia major

75
Q

In b-thalassemia minor, how many mutant alleles are there and what is the expression?

A

1 mutant and appr. 50%

76
Q

In the b-thalassemia trait, how many mutant alleles are there and what is the expression like?

A

2 mutant alleles and intermediate expression

77
Q

In b-thalassemia major, how many mutant alleles are there and what is the expression?

A

2 mutant alleles and very low or none

78
Q

What types of genetic testing can be used to detect carriers? For prenatal testing?

A

SNP micro array. Fish probe if you know what you are looking for, you can do a western blot, gene sequencing, RFLP.

79
Q

What is the type of hemoglobin that is caused by an allele of Beta hemoglobin having unequal crossover with fetal hemoglobin?
Is it functionally active? How is it expressed?

A

Hb lepore, yes it is functionally active, but expressed at low levels due to fetal promotor and not expressed at all in adults

80
Q

Despite marked molecular heterogeneity of beta thalassemia, the prevalent molecular defects are limited in each at risk population, in fact only (blank) mutations account for 75-95% of the disease alleles.

A

4-10

81
Q

How should you test for beta thalassemia?

A

target mutation analysis (pop. appropriate) and then utilize mutation scanning or sequence analysis

82
Q

In 45% of cases, no mutations are found when all exons and intron exon boundaries are sequenced. There are also no defects in the mRNA (levels or
size) detected, but no protein is found.
What is the mutation?

A

There is an intronic sequence that is a hotspot for spontaneous mutations which force exons to invert resulting same mRNA length and maintained length but different sequence.

83
Q

What testing is done when the gene of interest’s location on a chromosome is known. For example Cystic Fibrosis carrier testing.

A

Direct testing

84
Q

what uses the use of several DNA sequence polymorphisms (normal variants) that are near or within a gene of interest to track within a family the inheritance of a disease causing mutation in that gene.

A

linkage analysis

85
Q

What does biochemicl testing test?

A

enzymes, proteins, or analytes (neonatal screning)

86
Q

mutation scanning is also called (blank)

A

exon scannin

87
Q

in mutation scanning the exons are subjected to what kind of tests?

A

physical

88
Q

What are four methods of mutation scanning?

A

DGGE, mismatch cleavage, SSCP, CSGE

89
Q

For diseases with a high proportion of rare alleles (i.e. family specific mutations), (blank) analysis is not the molecular genetics test used.

A

mutation

90
Q

what detects promotor defects?

A

RNA (northern blotting) and protein assays

91
Q

northern blotting analyzes what?

A

promoter mutations or transcription changes in specific genes

92
Q

(blank) can be used as a probe for southern blots

A

ASO

93
Q

RFLP is used with what kind of chromosomes

A

Homologous with differing restricition sites

94
Q

how is DNA fingerprinting done?

A

utilizes VNTR,restricton endonucleases and southern blotting

95
Q

Fragile x is caused by a lot of (blank) and effects the brain

A

repeats on FMR1

96
Q

who is fragile x found?

A

PCR and southern blotting

97
Q

(blank) disease is an inherited disease that results in the degeneration of nerve cells. This disease has a late onset and therefore is not seen till later on in life. It is an autosomal dominant disease.

A

hunington disease

98
Q

what does huninton use to be found

A

G8 RFLP, PCR, southernblot

99
Q

How do you detect DMD?

A

males PCR females qPCR/fish

100
Q

How can you detect SCA/THalassemias

A

protein electrophoresis, ASO testing, mutation analysis

WK 4 (7 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions