Genetic Mutations And Polymorphisms Flashcards by Shelby SK

Mutation of the CFTR gene results in:

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

How well did you know this?

Not at all

Perfectly

One of the specific mutations for Tay-Sachs involves:

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

How well did you know this?

Not at all

Perfectly

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

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

How well did you know this?

Not at all

Perfectly

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

PMP22

Neurological

How well did you know this?

Not at all

Perfectly

VNTRs repeat polymorphisms:

14-500 bp

How well did you know this?

Not at all

Perfectly

Tay-Sachs is a __________ inheritance

Autosomal recessive

How well did you know this?

Not at all

Perfectly

Example of lethal mutation

Infantile Tay-Sachs

How well did you know this?

Not at all

Perfectly

B-Thalassemia is a _____________ inheritance

Autosomal recessive

How well did you know this?

Not at all

Perfectly

B-Thalessemia specific genetic mutation

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

How well did you know this?

Not at all

Perfectly

Hemophilia B specific genetic alteration:

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

How well did you know this?

Not at all

Perfectly

Frame-shift mutation

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

How well did you know this?

Not at all

Perfectly

SNPs

Single Nucleotide Polymorphisms

How well did you know this?

Not at all

Perfectly

Conditional Mutations:

Depend on the environment for manifestation of the disease symptoms

How well did you know this?

Not at all

Perfectly

Cystic Fibrosis is a ____________ inheritance

Autosomal recessive

How well did you know this?

Not at all

Perfectly

Cystic fibrosis alters the ___________ gene and is a __________ disorder

CFTR

Lung

How well did you know this?

Not at all

Perfectly

How does VNTR technique work in solving identity

Excluding people rather than recognizing people

How well did you know this?

Not at all

Perfectly

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

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

How well did you know this?

Not at all

Perfectly

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

Purine, different purine
Or
Pyrimidine, different pyrimidine

How well did you know this?

Not at all

Perfectly

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

B-globin

Blood

How well did you know this?

Not at all

Perfectly

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

“Molecular fingerprint” of individuals

How well did you know this?

Not at all

Perfectly

Nuerofibromatosis Type 1 (NF1) has a _______________ phenotype

Highly variable

How well did you know this?

Not at all

Perfectly

Tay-Sachs is common among populations of:

Ashkenazi Jewish
Cajun
French Canadian

How well did you know this?

Not at all

Perfectly

Most common inherited neurological disorder:

Charcot-Marie-Tooth disease

How well did you know this?

Not at all

Perfectly

Point mutation:

Represent single base pair changes in the sequence of DNA

How well did you know this?

Not at all

Perfectly

Huntington’s disease is the result of:

An expansion of a CAG triplet

Tay-Sachs is a deficiency:

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

Large deletion can be a result of:

Aberrant recombination

Lack of hexosaminidase A leads to:

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

Symptoms of Neurofibromatosis Type 1 (NF1)

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

The most common genetic mutation for cystic fibrosis:

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

Example of conditional mutation

G6PD deficiency

In-frame mutation

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

Mutations can be generated by:

Failure of the DNA to copy accurately | Internal/external influences of the DNA structure/nucleotides

Lethal mutations:

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

Neurofibromatosis Type I (NF1) specific genetic mutation

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

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

PMP22: encodes peripheral myelin protein

CFTR:

Cystic Fibrosis Transmembrane Conductance Regulator

Example of a large deletion mutation:

A-thalassemia

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

A-globin genes | Blood

VNTRs stand for:

Variable Number Tandem Repeats (mini satellites)

CFTR function:

Chloride channel

Missense mutation:

Wrong amino acid

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

HexA (hexosaminidase A) | Neurological

Example of Loss-of-function mutation

NF-1, cystic fibrosis

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

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

Hemophilia B alters the gene ________ and is a __________ disorder

Factor IX | Blood clotting

Gain-of-function mutation:

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

Neurofibromatosis Type I (NF1) is ___________ inheritance

Autosomal dominant

Neurofibromatosis type 1 alters __________ gene and is a ____________ disorder

NF1 (neurofibromin) | Neurological (neurofibromas, learning disabilities)

Phenotype represents:

The observable character of the cell or organism

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

B-globin | Blood

STRPs are repeats of about

205 bp

Epigenetic changes are:

Alterations in phenotype without a true alteration in genotype

Loss-of-function mutation:

Function of the GENE is lost, either partially or completely

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

Purine, pyrimidine Or Pyrimidine, purine

Methylation (is/is not) a form of mutation

Is not

CODIS:

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

Large insertion disease:

Charcot-Marie-Tooth disease

Most severe form of Tay-Sachs

Infantile

Influences on phenotype

Genotype and environment

Polymorphism versus Mutations

Polymorphism: common variants in DNA sequence in a population Mutations: changes in the DNA sequence of an individual

Purine:

Adenine (A) and guanine (G)

Silent mutation:

Base change that doesn’t change the amino acid

Sickle cell disease specific mutation

Missense mutation A to T transversion that changes the amino acid

Point mutations in B-thalassemia can affect:

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)

Two types of point mutation:

Transitions and Transversions

Pyrimidine=

Thymidine (T) and Cytosine (C)

CNVs have repeat polymorphisms:

Greater than 1000 bp, up to 2 million bp

Consequences of point mutations:

Missense, nonsense, silent

Nonsense mutation

New stop codon

Sickle cell disease is a __________ inheritance

Autosomal recessive

An allele is a:

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

Hemophilia B is a ____________ type of inheritance

X-linked recessive

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

Do not

Genotype represents:

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

Mutations are:

Changes to the nucleotides within the DNA

STRPs stands for:

Short tandem repeat polymorphisms (microsatellites)

CNVs stand for:

Copy Number Variations

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

Polymorphism