Genetics🧬 Flashcards
What are alleles?
Forms of the same gene with small differences
What is the meaning of autosomal dominant (in the context of inheriting disease)?
Individuals carrying one mutated copy of a gene in each cell will be affected by the disease
In autosomal recessive inheritance affected individuals MUST carry two mutated copies of a gene. True or false?
True
True or false: Only males can pass on mitochondrial conditions to their children?
False - only females can
What does X-Linked inheritance involve?
Genes located on the X chromosome of the 23rd pair
What is a mutation?
A change in sequence of DNA nucleotides that may or may not affect a persons phenotype
What is genomics?
The study of the whole genome and the relationships between genes and the physical or social environment which can cause changes to gene expression
What can cause epigenetic and somatic mutations?
Variations within the genetic code, damage caused by the environment and changes which happen during the lifespan
Why is genomic information important?
It can identify inherited disorders, characterise mutations that cause cancer progression and track disease outbreak
Why is whole genome sequencing important?
It can improve the speed and accuracy of diagnosis