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Biochem 4 > Genetic Mutations And Polymorphisms > Flashcards

Genetic Mutations And Polymorphisms Flashcards

1
Q

Mutation of the CFTR gene results in:

A

Chloride channel does not reach plasma membrane disrupting the movement of chloride ions

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3
Q

One of the specific mutations for Tay-Sachs involves:

A

A point mutation G to C that alters the proper slicing of the mRNA at the boundary between exon 12 and intron 12 of hexA gene

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4
Q

Charcot-Marie-Tooth disease (CMT) specific genetic mutation

A

Duplication of 1.5 million base pairs of chromosome 17 produced by misalignment during recombination. All genes are present as three copies

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5
Q

Charcot-Marie-Tooth disease alters the ___________ gene and is a ___________ disorder

A

PMP22

Neurological

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7
Q

VNTRs repeat polymorphisms:

A

14-500 bp

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10
Q

Tay-Sachs is a __________ inheritance

A

Autosomal recessive

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11
Q

Example of lethal mutation

A

Infantile Tay-Sachs

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12
Q

B-Thalassemia is a _____________ inheritance

A

Autosomal recessive

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13
Q

B-Thalessemia specific genetic mutation

A

Different point mutations affect B-globin gene and result in a decrease in the production of B-globin

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16
Q

Hemophilia B specific genetic alteration:

A

An A to G transition alters the bind of a key transcription factor needed for expression

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17
Q

Frame-shift mutation

A

Insertion/Deletion of 1-2 bp. Everything past the insertion/deletion is read in the wrong frame

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18
Q

SNPs

A

Single Nucleotide Polymorphisms

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20
Q

Conditional Mutations:

A

Depend on the environment for manifestation of the disease symptoms

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21
Q

Cystic Fibrosis is a ____________ inheritance

A

Autosomal recessive

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23
Q

Cystic fibrosis alters the ___________ gene and is a __________ disorder

A

CFTR

Lung

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24
Q

How does VNTR technique work in solving identity

A

Excluding people rather than recognizing people

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25
Q

Charcot-Marie-Tooth disease (CMT) results in:

A

Peripheral nervous system disease resulting in progressive atrophy of distal limb muscles

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26
Q

In a transition point mutation, a ______ is replaced by a ______

A

Purine, different purine
Or
Pyrimidine, different pyrimidine

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30
Q

B-thalassemia is alters the __________ gene and is a __________ disorder

A

B-globin

Blood

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31
Q

The number of repeats in a sequence can be used to creat a:

A

“Molecular fingerprint” of individuals

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32
Q

Nuerofibromatosis Type 1 (NF1) has a _______________ phenotype

A

Highly variable

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34
Q

Tay-Sachs is common among populations of:

A

Ashkenazi Jewish
Cajun
French Canadian

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35
Q

Most common inherited neurological disorder:

A

Charcot-Marie-Tooth disease

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36
Q

Point mutation:

A

Represent single base pair changes in the sequence of DNA

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38
Q

Huntington’s disease is the result of:

A

An expansion of a CAG triplet

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40
Q

Tay-Sachs is a deficiency:

A

Lysosomal storage disorder resulting from a deficiency of the lysosomal hexosaminidase A protein coded for by hexA gene

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41
Q

Large deletion can be a result of:

A

Aberrant recombination

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42
Q

Lack of hexosaminidase A leads to:

A

A build-up of GM2 ganglioside in neuronal lysosomes, causing neuron damage

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44
Q

Symptoms of Neurofibromatosis Type 1 (NF1)

A

Neurofibromas
Cafe-au-lait spots
Lisch nodules in the iris

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45
Q

The most common genetic mutation for cystic fibrosis:

A

Deletion of three nucleotides within the coding region (In-Frame mutation)

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46
Q

Example of conditional mutation

A

G6PD deficiency

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47
Q

In-frame mutation

A

Insertion/Deletion of 3 bp. Extra amino acids are inserted/deleted by remaining codons are read correctly

49
Q

Mutations can be generated by:

A

Failure of the DNA to copy accurately

Internal/external influences of the DNA structure/nucleotides

50
Q

Lethal mutations:

A

Cause the organism to die, often during development leading to miscarriage

52
Q

Neurofibromatosis Type I (NF1) specific genetic mutation

A

Nonsense mutation that introduces a stop codon into the NF1 coding region. Shortened protein is unstable and rapidly degraded

54
Q

Which gene is associated with Charcot-Marie-Tooth disease?

A

PMP22: encodes peripheral myelin protein

56
Q

CFTR:

A

Cystic Fibrosis Transmembrane Conductance Regulator

57
Q

Example of a large deletion mutation:

A

A-thalassemia

59
Q

A-thalassemia alters the _____________ gene and is a ___________ disorder

A

A-globin genes

Blood

60
Q

VNTRs stand for:

A

Variable Number Tandem Repeats (mini satellites)

61
Q

CFTR function:

A

Chloride channel

64
Q

Missense mutation:

A

Wrong amino acid

65
Q

Tay-Sachs alters the gene _______ and is a ________ disorder

A

HexA (hexosaminidase A)

Neurological

66
Q

Example of Loss-of-function mutation

A

NF-1, cystic fibrosis

69
Q

The most common variant of Tay-Sachs is caused by:

A

A 4 base insertion in the hexA gene (frameshift) resulting in a premature stop codon (nonsense)

70
Q

Hemophilia B alters the gene ________ and is a __________ disorder

A

Factor IX

Blood clotting

71
Q

Gain-of-function mutation:

A

Increased protein activity, novel protein activity, or protein expressed in a novel location

72
Q

Neurofibromatosis Type I (NF1) is ___________ inheritance

A

Autosomal dominant

74
Q

Neurofibromatosis type 1 alters __________ gene and is a ____________ disorder

A

NF1 (neurofibromin)

Neurological (neurofibromas, learning disabilities)

75
Q

Phenotype represents:

A

The observable character of the cell or organism

76
Q

Sickle-cell disease alters _________ gene and is a ________ disorder

A

B-globin

Blood

78
Q

STRPs are repeats of about

A

205 bp

80
Q

Epigenetic changes are:

A

Alterations in phenotype without a true alteration in genotype

83
Q

Loss-of-function mutation:

A

Function of the GENE is lost, either partially or completely

84
Q

In a transversion point mutation, a ________ is replaced by a _____________

A

Purine, pyrimidine
Or
Pyrimidine, purine

85
Q

Methylation (is/is not) a form of mutation

A

Is not

87
Q

CODIS:

A

(Combined DNA Index System) is a panel of 15 VNTR loci used by the FBI

88
Q

Large insertion disease:

A

Charcot-Marie-Tooth disease

92
Q

Most severe form of Tay-Sachs

A

Infantile

93
Q

Influences on phenotype

A

Genotype and environment

96
Q

Polymorphism versus Mutations

A

Polymorphism: common variants in DNA sequence in a population

Mutations: changes in the DNA sequence of an individual

98
Q

Purine:

A

Adenine (A) and guanine (G)

99
Q

Silent mutation:

A

Base change that doesn’t change the amino acid

101
Q

Sickle cell disease specific mutation

A

Missense mutation A to T transversion that changes the amino acid

106
Q

Point mutations in B-thalassemia can affect:

A

Transcription levels of the gene (promoter region mutation)
Splicing of the gene
Amino acid sequence of the the coding region (missense, nonsense)
Stability of protein (nonsense)

108
Q

Two types of point mutation:

A

Transitions and Transversions

109
Q

Pyrimidine=

A

Thymidine (T) and Cytosine (C)

110
Q

CNVs have repeat polymorphisms:

A

Greater than 1000 bp, up to 2 million bp

113
Q

Consequences of point mutations:

A

Missense, nonsense, silent

116
Q

Nonsense mutation

A

New stop codon

117
Q

Sickle cell disease is a __________ inheritance

A

Autosomal recessive

121
Q

An allele is a:

A

Variant form of a gene that was created by the occurrence of a mutation in the DNA sequence

122
Q

Hemophilia B is a ____________ type of inheritance

A

X-linked recessive

125
Q

Changes in genotype do or do not always result in changes in phenotype

A

Do not

131
Q

Genotype represents:

A

The genetic constitution of an organism. It is the summation of all of the DNA within the cell or organism

132
Q

Mutations are:

A

Changes to the nucleotides within the DNA

134
Q

STRPs stands for:

A

Short tandem repeat polymorphisms (microsatellites)

143
Q

CNVs stand for:

A

Copy Number Variations

144
Q

Much of the inter-individual variation seen between people is attributed to:

A

Polymorphism

Biochem 4 (9 decks)

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