genetic disases Flashcards
what is a genetic mutation?
a permeant change in the DNA sequence that makes up a gene
what js a somatic mutation?
mutation that happened during DNA replication and that isn’t inherited
what is a germline mutation?
a mutation that happens in meiosis and maybe inherited by offspring
what are the 2 types of genetic mutations?
- somatic
- germline
what are the 5 types of gene mutations?
- silent
- missense
- nonsense
- idel
- expanding triple nucleotide repeats
what is a silent mutation?
when the bade changed but the correct amino acid is inserted so there is no change an a functional protein is made
what is a missense mutation?
when the wrong amino acid is instead and a non-functional protein is therefore made
what is a nonsense mutation?
when a stop triplet codon js interred at the wrong time making a short non-functional protein
what is a indel mutation?
- when a bases is added (insertion) or removed (deletion) casuing a frame shift which changes the amino acid sequence
what happened when an expanding triple nucleotide repeats?
3 base triples get repeated which increases DNA replication and can lead to diseases like Huntingdon’s
what causes cystic fibrosis?
autosomal recessive inheritance
what causes Huntingdon’s disease?
autosomal dominant inheritance
what causes haemophilia A ?
sec linked inheritance; the ressesive gene is found on the sec chromosomes
what is sex linkage?
the condition in which a gene responsible for a trait is located on a sex chromosome
