Flashcards in Genetics Deck (24):
what is the term used to describe a particular gene or set of genes carried by an individual?
What is phenotype?
which gene mutation is the alteration of a single base pair
which mutation is a loss of one or several base pairs
this mutation is the addition of one or several base pairs
one or several base pairs are replaced by several different base pairs
this mutation is caused by a shift in the reading frame caused by insertion or deletion of a number of nucleotides NOT DIVISIBLE BY 3
what is a nonsense mutation
formation of a stop codon = alterations in the splicing and early termination
which mutation is an altered codon that codes for a different amino acid
what are the 3 major types of genetic disease?
Single-Gene mutation (most common)
what happens if a protein is altered by a mutation
it can retain its function at a reduced capacity, become totally disabled, or gain an entirely new yet DAMAGING function
what type of mutation is aneuploidy?
chromosomal - aka trisomy
what does it mean to have a structural form of chromosomal mutation?
breakage and incorrect joining of chromosome agents
what are the 5 types of laws of inheritance?
what is 3 copies of a chromosome called?
leukemia is a translocation between chromosomes ____
9 and 22
are single nucleotide polymorphisms rare?
no - they occur every 100-300 bases; account for different blood types
True or false: cytogenic testing involves examining a strand of DNA for abnormalities
FALSE: it examines the whole chromosome
why is molecular testing difficult?
some diseases have different mutations that occur in the same gene and result in the same disease
3 types of genetic testing used
what is cytogenic testing used to detect?
abnormalities in chromosome structure
what is biochemical testing used to detect?
abnormalities in protein function
what is molecular testing used to detect?
abnormalities in DNA sequence