MGD DNA AND PROTEINS DIAGNOSIS Flashcards
Heterozygous 3 BP deletion in a gene
PCR amplification, check the size of product by gel electrophoresis.
PCR amplification followed by DNA sequencing.
PCR amplification followed by hybridisation to an allele-specific oligonucleotide.
Two-dimensional gel electrophoresis
DNA stretch with a single base missense mutation in a gene
PCR amplification and DNA sequencing
PCR amplification and hybridisation with an allele specific probe
DNA stretch with a single base nonsense mutation in a gene
PCR amplification followed by DNA sequencing.
PCR amplification followed by hybridisation to an allele-specific oligonucleotide
Western blotting
Two-dimensional gel electrophoresis
GT to GA change in donor splice site at the end if an exon on a gene coding for an enzyme
PCR amplification followed by DNA sequencing.
PCR amplification followed by hybridisation to an allele-specific oligonucleotide
Western blotting
Enzyme assay
Two-dimensional gel electrophoresis
Deletion of several contiguous genes on one copy of chromosome 17
Fluorescent in situ hybridisation (FISH)
Two-dimensional gel electrophoresis
Duplication of one or more exons in a gene
Southern blotting
Western blotting
Two-dimensional gel electrophoresis
Deletion of one or more exons in a gene
PCR amplification, check for absence/presence of product
PCR amplification, check the size of product by gel electrophoresis
Southern blotting
Western blotting
Two-dimensional gel electrophoresis
Any material extra or missing on a copy of chromosome 7 in a patient
Chromosome painting
4bp insertion into a gene coding for an enzyme - which causes a frame shift and the formation of a new stop codon
PCR amplification followed by DNA sequencing.
PCR amplification followed by hybridisation to an allele-specific oligonucleotide
Western blotting
Enzyme assay
Two-dimensional gel electrophoresis
Differential gene expression of alternative splicing variants of a given human gene on chromosome 2
RT-PCR
