Genetic Variation & Genetic Disease Flashcards
Single nucleotide polymorphisms (SNPs) occur approximately every
Single nucleotide polymorphisms (SNPs) occur approximately every 1,000 base pairs
Pros of genetic variation
Genetic variation allows a population to survive to changing environmental conditions.
Advantageous traits can be passed on to next generation
disadvantageous traits are lost through generations, driving natural selection
Cons of genetic variation
New genetic mutations = can cause disease
Some mutations can be deleterious but same time offer protection to other diseases (e.g. sickle cell traits protect from malaria, CF carriers are protected from cholera)
Where are most genetic differences located in genome
SNPs (occur every 1,000 base pairs)
Alleles with ____ penetrance are very rare
Alleles with HIGH penetrance are very rare
Alleles with _____ penetrance are common
Alleles with LOW penetrance are common
List 3 ways we detect genetic variation
• PCR (Polymerase Chain reaction)
• sequencing
• NGS (Next Generation Sequencing)
What is a PCR used for
PCR is used to see what changes in DNA cause disease/ make individuals susceptible to a disease
Describe the process of PCR simply
Next Generation Sequencing (NGS) is better for genetic analysis than PCR, what are 3 things it can do
• WHOLE EXOME SEQUENCING (can sequence whole exomes= coding portions of genome)
• WHOLE GENOME SEQUENCING (sequence 100% of genome)
• WHOLE RNA sequencing (sequence expressed RNA)
Define exome
EXOME is a sequence of exons in a genome
Define exon
exons are protein coding portions of genome
Define intron
Introns are stretches of DNA between exons that are non-coding
What is known as the ‘gold standard’ of genetic testing
Sanger sequencing
What does ddNTP stand for
ddNTP= dideoxyribonucleic acids