8: Genetics Flashcards
mutations and inheritance
two types of radiation that can cause mutations
high energy radiation, like UV
ionising radiation, like X rays, Gamma rays
the genetic code is what—–
degenerate
example of a nonsense mutation
cycstic fibrosis
what is a genotype
combination of alleles found in an organism at a particular gene
what is PKU caused by
a mutation in an autosomal gene that codes for the enzyme needed to convert phenylalanine to tyrosine
what is a codominant allele
two alleles that both contribute to the phenotype in a heterozygous individual
which pair of chromosomes are sex chromosomes
23rd
what are the three types of gene mutation
substitution, deletion, insertion
nonsense mutations:
creates a premature stop codon, no functional protein is made
what is a gene locus
place gene is found on a chromosome
cancer starts how
mutation in gene that causes cell division- oncogene, or in tumour supresser genes
what is the result of base substitution
SNP’s formed
what do SNP’s stand for
single nucleotide polymorphisms
cancer occurs from uncontrolled what
uncontrolled mitosis, forming a tumour
2 examples of chemical substances that can cause mutations
carcinogens found in tobacco smoke
mustard gas from WW1
what is a gene mutation
a change in the sequence of base pairs in a DNA molecule
example of disease involved in inheriting recessive alleles
phenylketonuria, PKU
2 types of mutagenic agents
chemical substances, radiation
substitution mutations can take three forms :
silent mutations
missense mutations
nonsense mutations
which cell, germ or somatic, is cancer related to
somatic
example of a missense mutation
sickle cell anaemia
example of phenotypic plasticity in humans
skin colour, enzymes activated in UV light increase expression/production of melanin
deletion and insertion have an effect on the rest of the sequence known as a
frameshift mutation
example of mutation hotspots are regions were it is more frequent, give an example
c-g
can turn into c-t
called methylation
associated with colorectal cancer