Genetics Flashcards
What is a genetic disorder
Health condition caused by abnormalities in the genome
How can mutations occur
Spontaneously before embryonic development
Inherited from two parents who are carriers
Inherited from a parent with the disorder (dominant)
What is autosomal recessive
Mutated alleles have to be inherited from both parents in order for a person to be affected
Why are x linked recessive more common in men
Only one x chromosome
Describe dna sequencing
Compare genome sequences of different types of animals and organism
Paternity testing
Susceptible to disease
What is next generation sequencing
Number of different modern sequencing technologies
More quickly and cheaply
Illumina (solexa) and nanopore
What does NGS do
Produce million of sequences
Lower cost of dna sequencing
Quick
What is illumina (solexa) sequencing
Identifying dna bases as each base emits a fluorescent signal and adds them to a nuclei acid chain
Sample must be in short sections
Pcr is used to amplify each read
Terminator is used so only one base is added at a time
What is nanopore sequencing
An enzyme unwinds dna feeding a strand through a protein pore
Unique shale if each base causes a disruption in the electrical current
Provides a readout for the sequence
What is the human genome project
Determines the base pairs that make up the human dna
Identifies and maps genes in the human genome
Storage and building a set of overlapping dna segments
What is the encode project
Proves that more than 98% is no coding and does not code for a protein
These are used to regulate the genes= switched on or off
Application of NGS
Medical- understanding health and disease status or identifying genetic diseases
Helps identify the genomic sequence
Predicted conditions
Discover new targets for drug designs
