Dna Variants Flashcards
What cells can pathogenic variants can be inherited
On in germ cells
What are the 2 DNA repair mechanisms
Excision repair;
Nucleotide removes 30
Base- removes 5
Mistmatch repair
Misaligned DNA strands
What are pseudogenes
Genes translated but not transcribed
Gaucher disease
What triplet repeat expansion is altered in coding and non coding
Coding- altered protein
Hungtingtona
Non coding - altered gene exoression
Myotonic dystrophy
Name 2 imprinting pathogenic changes and maternal and paternal copies
Pradis willi
Only maternal copy present
Angelman
Only paternal copy
What is depurination
When base spontaneously falls off
Purines
What are hotspots for dna variants
Repetitive DNA sequences
Gain lf function variants
Chromosome 14
What is a variany
A specific tegion of the genome that differs between two genomes
What is an allele
Different versions of the same variant
What is a pathogenic variant
Can cause acquired disease or heritable disorder
