Genetics Flashcards
what is a genotype?
a persons genes
what is a phenotype?
a persons physical appearance
when does DNA replication occur?
during the S phase
what is mitosis?
when one diploid parent cell divides into two identical diploid daughter cells
what is meiosis?
when one diploid parent cell becomes four haploid daughter cells
what is a polymorphism?
a variation in the genome that doesnt cause disease but predisposes to a certain disease
name two types of sequence variations within a gene
changes in promotor sequence
changes in exon sequence
name two sequence changes that can occur in DNA between genes
single nucleotide polymorphisms
deletions/duplications
what is a mutation?
a change in a gene that causes a disease or disorder, can be inherited
what does aCGH stand for?
array hybridisation
what can aCGH be used for?
to analyse DNA for deletions and duplications
what is the thing aCGH looks for?
balanced rearrangements
name two techniques that can be used to analyse single bases in DNA
polymerase chain reaction (PCR)
next generation sequencing (NGS)
what is a promotor mutation?
when there is a change in the promotor sequence of DNA
what is the promotor sequence?
where transcription begins
what can a promotor mutation cause?
reduced transcription or none
smaller protein or none
what can loss of an intron or inclusion of an exon cause?
absent or abnormal protein
what happens if a base change creates a premature stop codon?
short protein produced or no protein produced
what does a mutation beginning with p. represent?
change in the protein sequence
what does a mutation beginning with c. represent?
change in the mature mRNA sequence
what is penetrance?
the likelihood of having a disease if you have a gene mutation
describe the penetrance of mendelian disorders
high
what are mendelian disorders?
diseases predominantly caused by a change in a single gene
