Genetics of Heart disease Flashcards

1
Q

Describe the two types of mutations

A

Monogenic - One gene mutation leads to disease
In the coding area
Polygenic - Many genes add up to increase risk
Not in the coding area

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2
Q

Give examples of Polygenic mutation/diseases

A

Hypertension, T2 diabetes, obesity

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3
Q

Define the Central Dogma

A

DNA is transcribed to RNA
RNA is translated to proteins

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4
Q

State 4 different bases

A

Adenine
Cytosine
Guanine
Thymine

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5
Q

Define what a chromosome is

A

DNA is packaged in chromosomes - the nucleic acid wrapped in structural proteins
Resides in the nucleus of the cell

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6
Q

Define what the human genome is

A

23 pairs of chromosomes, 2 sex chromosomes X and Y, and 22 pairs of non-sex chromosomes

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7
Q

Define coding DNA

A

Contains genetic information that is transcribed into RNA and that RNA is translated into protein - 1% of the human genome

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8
Q

Define a Gene

A

Region of DNA that is transcribed as a single unit and carries information for a discrete hereditary characteristic – RNA

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9
Q

Define a phenotype

A

Effects of DNA, RNA combined with environmental factors
The observable characteristics of an individual resulting of its genotype with the environment - ie hair colour, diseases

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10
Q

Describe the scale of mutations

A

Small scale - DNA sequences variants
Large scale - Chromosomal structure

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11
Q

State the other name for common DNA sequence variants

A

Polymorphisms

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12
Q

State some examples of Polymorphisms

A

SNP,VNTR, CNV and indel

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13
Q

Define a Single Nucleotide Polymorphism (SNP)

A

A polymorphisms where a single base differs from usual

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14
Q

Define Variable Number Tandem Repeats (VNTR)

A

A polymorphism where the number of repeats of short DNA sequences vary.
Varies between individual

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15
Q

Define Copy Number Variation

A

A polymorphism where the number of a larger pair (greater than 1,000 bases) varies

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16
Q

Define Indel

A

A polymorphism where a DNA sequences is present or absent

17
Q

Describe the two different origins of DNA sequence variants

A

Germaline Transmission - mutation occurred in egg or sperm cell; can be passed on
Somatic Transmission - mutation occurred in a different cell; can’t be passed on

18
Q

Define the difference between coding and non coding variants

A

Coding variants - easier to predict due to their genetic code being known and the translation into a protein sequence

19
Q

Give an example of a classical genetic trait

A

Blood type

20
Q

Define Mendel’s law of segregation

A

A person with two alleles will ‘segregate’ the two so there is a 50% chance of transmitting either

21
Q

Define Mendel’s Law of Dominance

A

Heterozygote - allele which masks the other is referred to as dominant and the masked as recessive

22
Q

Define Mendel’s law of independent assortment

A

Separate genes for separate traits are passed independently of one another parent to offspring

23
Q

Define Autosomal

A

Gene is located in one of the non sex chromosomes

24
Q

Define Autosomal Dominant

A

A single copy of the diseases-associated mutation is enough to cause the disease

25
Q

Define Autosomal Recessive

A

Two copies of an abnormal gene is required to be present for the trait to develop

26
Q

Define X-linked

A

Inheritance refers to genetic conditions associated with mutations in genes on the X chromosome

27
Q

Define X-linked dominant

A

Single copy of the disease-associated mutation is enough to cause the disease

28
Q

Define X-linked recessive

A

Two copies of an abnormal gene must be present for the disease or trait to develop

29
Q

State what genetic testing is and does

A

Identifies DNA variants in affected individuals and estimates the probability that the variant is the cause of the disease

30
Q

Describe the benefits what genetic testing can give

A

Identifies at risk individuals before onset of illness

fosters an understanding of pathogenesis and evolution

Promotes treatment strategies to interrupt disease progression and development