Genetics of Heart disease Flashcards
Describe the two types of mutations
Monogenic - One gene mutation leads to disease
In the coding area
Polygenic - Many genes add up to increase risk
Not in the coding area
Give examples of Polygenic mutation/diseases
Hypertension, T2 diabetes, obesity
Define the Central Dogma
DNA is transcribed to RNA
RNA is translated to proteins
State 4 different bases
Adenine
Cytosine
Guanine
Thymine
Define what a chromosome is
DNA is packaged in chromosomes - the nucleic acid wrapped in structural proteins
Resides in the nucleus of the cell
Define what the human genome is
23 pairs of chromosomes, 2 sex chromosomes X and Y, and 22 pairs of non-sex chromosomes
Define coding DNA
Contains genetic information that is transcribed into RNA and that RNA is translated into protein - 1% of the human genome
Define a Gene
Region of DNA that is transcribed as a single unit and carries information for a discrete hereditary characteristic – RNA
Define a phenotype
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
Describe the scale of mutations
Small scale - DNA sequences variants
Large scale - Chromosomal structure
State the other name for common DNA sequence variants
Polymorphisms
State some examples of Polymorphisms
SNP,VNTR, CNV and indel
Define a Single Nucleotide Polymorphism (SNP)
A polymorphisms where a single base differs from usual
Define Variable Number Tandem Repeats (VNTR)
A polymorphism where the number of repeats of short DNA sequences vary.
Varies between individual
Define Copy Number Variation
A polymorphism where the number of a larger pair (greater than 1,000 bases) varies