Chapter 9 Flashcards
gene mutations involving one or a few base pairs that are not detectable by cytogenetic methods but are detected at the DNA sequence level
point mutations
what is the most common mutation screening procedure in the clinical lab
single strand conformation polymorphism
what hybridization relies on binding effects of nucleotide mismatches
allele specific oligomer hybridization ASO
denaturation of DNA to single strands will result in loss of what
fluorescence
what is used to investigate multiple genomic sites simultaneously
array Technologies
what interogates thousands of genes a Simultaneously
high-density oligonucleotide arrays
what is a two-base deletion
frameshift mutation
the code on UGG is mutated to UGA. What will happen to the encoded protein
the encoded protein will be prematurely terminated
substitution of leucine with Valene in an amino acid sequence is what type of mutation
conservative
which mutation is more likely to result in a phenotypic change
frameshift mutation at the beginning of the coding sequence
ELISA is based on what earlier method first used to detect insulin in plasma
RIA
what describes the size exclusion HPLC
porous beads trap smaller molecules and exclude larger ones
which laboratory method is used to detect mutations relied on differences in dissociation of double-stranded DNA into single stranded DNA at different points in a gel
denaturing gradient gel electrophoresis
what methodology was used in the human haplotype mapping project
inversion probe assay
which method detects mutations in a sequencing polymerization based method
dideoxy DNA fingerprinting
