Genome Analysis in Practice Flashcards
What methods are used to detect point mutations? [2]
- DNA sequencing
- allele-specific (ARMS) PCR
Describe the 2 types of DNA sequencing [2]
- automated fluorescent dideoxy (Sanger) sequencing
- sequences 1 gene at time
- massively parallel (next-generation) sequencing
- sequences many or all genes
- can analyse a single gene, a gene panel, the exome, or the entire genome
What methods are used to detect sub-microscopic duplications and deletions? [3]
- MPLA
- chromosomal micro-array (CMA)
- FISH (chromosome-based analysis)
What is MPLA? [1]
PCR-based method that targets a group of specific known chromosomal loci where there may be a deletion
What is chromosomal micro-array (CMA)? [1]
method used to detect large number (e.g. 850,000) of single nucleotide polymorphisms (SNPs)
What is an aneuploidy? [1]
abnormal number of chromosomes that is not a multiple of 23 (e.g. trisomy 18)
What method is used for rapid detection of aneuploidies? [1]
quantitative fluorescent PCR (QF-PCR)
What are the 2 chromosome-based analysis methods? [2]
- karyotyping
- FISH
What is karyotyping? [1]
examining chromosomes under a microscope
What is fluorescence in-situ hybridisation (FISH)? [1]
using a specific DNA probe that binds to one location on a chromosome
Summary: What methods are used for whole chromosome analysis? [2]
- karyotyping
- QF-PCR
- for chromosomes 13, 18, 21, X & Y - rapid
Summary: What methods are used for detection of sub-microscopic deletions/duplications? [3]
- FISH or MLPA
- to detect deletions/duplications of particular known genes
- Array CGH
- if position of deletion/duplication is not known
Summary: What methods are used for detection of point mutations? [2]
- DNA sequencing
- ARMS PCR
