Exam 3 Flashcards
Chapters 8-11
a nucleotide sequence responsible for a phenotype
genotype
a change in DNA sequence that is present in a relatively small proportion of the population
polymorphism
a reciprocal translocation is which type of mutation
chromosome
the Philadelphia chromosome is used by a reciprocal exchange between chromosomes
chromosome mutation
where are highly repetitive Alpha sequences located
centromeres
a chromosome that has the centromere in the end of the chromosome is called
telocentric
the short arm of the chromosome is designated as what
p
when chromosomes are stained with gimsa after the harsher treatment it results in what band
R band
examination of chromosomes in karyotypes is performed on chromosomes and what stage of mitosis
metaphase
mitogen is used in the procedure of preparing a chromosome spread for karyotype analysis
induce cells to enter mitosis
a loss of genetic material from a chromosome is called
deletion
a chromosome formed when a Metacentric chromosome has a transverse split
ISOchromosome
fusion and break apart probes are used to detect
translocation
substitution of glycine with valine is an amino acid sequence in which type of mutation
non-conservative
what detects mutations that are associated with double-stranded DNA into single stranded DNA
denaturing gradient gel electrophoresis
cleavage based method to detect mutations
Invader assay
what detects single base differences in DNA
single strand conformation polymorphism
what assay can be performed with or without probe
melt curve assay
sequencing based method
SSP PCR and allele specific oligomers hybridization
most widely used method of DNA sequencing
Sanger sequencing
polymorphisms do not
always have phenotypic effects
polymorphisms from shortest to longest
SNP, Str, vntr, lines
which polymorphisms are routinely used in the lab
Str, vntr, SNP
Str located within a gene
tho 1
mitochondrial polymorphism used for human identification are found in the hypervariable regions
the regions range from 268 to 342 bp
