Genetics of Heart disease

Question 1

Describe the two types of mutations

Answer 1

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

Question 2

Give examples of Polygenic mutation/diseases

Answer 2

Hypertension, T2 diabetes, obesity

Question 3

Define the Central Dogma

Answer 3

DNA is transcribed to RNA
RNA is translated to proteins

Question 4

State 4 different bases

Answer 4

Adenine
Cytosine
Guanine
Thymine

Question 5

Define what a chromosome is

Answer 5

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

Question 6

Define what the human genome is

Answer 6

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

Question 7

Define coding DNA

Answer 7

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

Question 8

Define a Gene

Answer 8

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

Question 9

Define a phenotype

Answer 9

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

Question 10

Describe the scale of mutations

Answer 10

Small scale - DNA sequences variants
Large scale - Chromosomal structure

Question 11

State the other name for common DNA sequence variants

Answer 11

Polymorphisms

Question 12

State some examples of Polymorphisms

Answer 12

SNP,VNTR, CNV and indel

Question 13

Define a Single Nucleotide Polymorphism (SNP)

Answer 13

A polymorphisms where a single base differs from usual

Question 14

Define Variable Number Tandem Repeats (VNTR)

Answer 14

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

Question 15

Define Copy Number Variation

Answer 15

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

Question 16

Define Indel

Answer 16

A polymorphism where a DNA sequences is present or absent

Question 17

Describe the two different origins of DNA sequence variants

Answer 17

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

Question 18

Define the difference between coding and non coding variants

Answer 18

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

Question 19

Give an example of a classical genetic trait

Answer 19

Blood type

Question 20

Define Mendel’s law of segregation

Answer 20

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

Question 21

Define Mendel’s Law of Dominance

Answer 21

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

Question 22

Define Mendel’s law of independent assortment

Answer 22

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

Question 23

Define Autosomal

Answer 23

Gene is located in one of the non sex chromosomes

Question 24

Define Autosomal Dominant

Answer 24

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

Question 25

Define Autosomal Recessive

Answer 25

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

Question 26

Define X-linked

Answer 26

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

Question 27

Define X-linked dominant

Answer 27

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

Question 28

Define X-linked recessive

Answer 28

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

Question 29

State what genetic testing is and does

Answer 29

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

Question 30

Describe the benefits what genetic testing can give

Answer 30

Identifies at risk individuals before onset of illness fosters an understanding of pathogenesis and evolution Promotes treatment strategies to interrupt disease progression and development