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Flashcards in Week FO, FO SHO Deck (136)
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61

Why wouldn't an alteration be detected via sequence analysis? (3)

- alteration in region not tested for - alteration due to large deletion - pt does not have mutation

62

Mutation scanning involves physically testing _____ to confirm presence of mutation before sequencing used to determine exact mutation

exons, reduces amount of DNA that needs to be sequenced

63

Targeting mutation analysis is used to test for three things. What are they

- presence of specific mutation - specific type of mutation (nucleotide expansion in HD) - set of mutations (panels for CF-microarray)

64

If targeting mutation analysis is negative, what does this mean?

Pt may still have mutation, should do sequence analysis or mutation scanning

65

CF exhibits allelic heterogeneity. What percentage of patients have mutation in delta F508?

70%, 28% have 96 common mutations 2% have rare mutations

66

Quantitative PCR must be used to detect what three things?

1) hetero deletion mutations 2) carriers of auto recessive disorder 3) carriers of X-linked disorder

67

3-5% of individuals with autism have other chromosomal abnormalities including ___________________, inversions, deletions and duplications

balanced and unbalanced translocations

68

Which of these would not be used for direct DNA testing? a) Protein electrophoresis b) Southern Blotting c) PCR d) Northern Blotting

a + d

69

Which of these would not be indicated for use in detecting hemaglobinopathies? a) Northern Blotting b) Southern Blotting c) Protein electrophoresis d) Biochemical assay

c - detects protein changes in charge or size

70

Which of these methods is not employed in protein detection (changes in protein and structure)? a) Western Blot b) ELISA c) Protein electrophoresis d) Immunohistochemistry

c

71

Which of these would not be used in assessing changes in chromosomal number and structure? a) karyotyping b) FISH c) biochemical assays

c

72

What would you use to detect promoter defects?

RNA and protein assays

73

What has northern analysis larger been replaced with?

RT-PCR and chip microarrays

74

Southern blots uses _________ digestion

restriction enzyme

75

True or false - Both Northern and Southern blots require specific labeled probes and can only distinguish LARGE differences

true

76

Alleles of VNTR polymorphisms are different sizes. How can these be detected?

PCR

77

What is the most common disease causing mutation in DMD?

2/3 of DMD patients have a deletion of one or more exons (X-chromosome, XLR)

78

How is disease detected in affected males?

Looking at mutant dystrophin protein via immunofluorescence

79

Can PCR be used to detect carrier females of DMD? What can be used?

No, can use FISH or Quant PCR. Point mutations can be detected via sequence analysis.

80

How is allele specific oligonucleotide (ASO) testing used to screen for sickle cell mutation?

ASO labeled (single BP difference causes SCA - Glu6Val) then normal /SCA DNA visualized If + for both normal and SCA gene then carrier

81

What is the single BP difference that causes sickle cell anemia? What percentage of AAs are carriers? Africans?

Glu6Val in B-globin 10%, 30%

82

Describe the amino acid changes in SCA and Sickle-C disease

Normal amino acid = Glutamine = negatively charge (travels furthest down gel) SCA = Valine = no charge Sickle-C = Lysine = + charge (travels least)

83

Thalessemias are caused by globin chain imbalances. Differentiate between the two types

ALpha - no alpha globin Beta- no beta globin

84

In alpha thalessemia trait, __ (number) copies are lost, and there is a reduced _____ but person is asymptomatic

2, RBC size

85

In Hemoglobin H disease there is moderate to marked _____ and loss of ___ copies

anemia, 3

86

In alpha thalessemia there is a loss of ___ copies and _______ occurs

all 4, death/hydrops fetalis

87

In beta thalessemia minor, the heterozygote is asmpytomatic and has ___ mutant allele

1

88

In beta thalessemia trait, there are ____ mutant alleles and transfusion is/is not required

2, not

89

In beta thalessemia major, there are ___ mutant alleles and transfusion is/is not required

2, is

90

Hemoglobin lepore occurs when allele of B thalessemia is caused by _________ and is functionally active but expressed at low levels due to fetal promoter

unequal crossover