DNA Technology

Vocabulary flashcards based on cytogenetics and genomics lecture notes.

Cytogenetics

Study of number and morphology of chromosomes. Alec Jeffrey

Karyotype

Complete set of chromosomes.

In Situ Hybridization

Technique to localize and label specific DNA sequences on chromosomes.

RFLP (Restriction Fragment Length Polymorphism)

Variations in DNA fragment sizes due to restriction enzyme digestion; used in genetic profiling using sticky blunt ends and palindromic

PCR (Polymerase Chain Reaction)

Technique for amplifying small DNA sections using specific primers. Kary Mullis

Gel Electrophoresis

Separation of DNA fragments by size using an electric field. negative charged move towards the positive electrode

Short Tandem Repeats (STRs)

Short, repetitive DNA sequences used in genetic fingerprinting.

NGS (Next Generation Sequencing)

High-throughput sequencing technology utilizing PCR to sequence large numbers of sequences.

NGS Process

1. genomic dna fragmented

2. isolated

3. PCR - 10^6 copies and attached to 5’ end

4. nucleotides added and washed until correct is found

BAC (Bacterial Artificial Chromosome)

Engineered DNA molecules used to clone DNA fragments in bacterial cells. Overhanging chromosomes that are complimentary. Only anti bacterial survive.

Shotgun Sequencing

Method involving fragmenting DNA, cloning, sequencing, and ordering fragments with a computer.

Applicative Sequence Assembly

Quality checking and trimming sequence, comparing against reference sequence to determine impacts of genetic variants.

Bio Bank

Collection of biological samples (e.g., DNA) and associated data for research.

HapMap

Catalogue of common human genetic variation. Limited by small sample cohort and targeting genotypes

CNV (Copy Number Variant)

Variations in the number of copies of a DNA segment.

GWAS (Genome-Wide Association Study)

Study genotyping millions of SNPs to detect associations with common diseases.

1000 Genomes Project

Project to catalogue human variation through light sequencing of many individuals. 4000 whole genomes and 6000 exomes of conditions

Exome Sequencing

Sequencing only the protein-coding regions (exons) of the genome.

PCR Cycles

1. 2 molecules

2. 4 molecules

3. 8 molecules - 2 of which will match target

   after 30 cycles, 10^9 will match

Moore’s Law

we expected the capability of computers to increase and the cost to decrease but genomic sequencing has outpace this

Fingerprinting

minimal cells, degraded DNA and sensitive to contamination

Sanger Sequencing

Copies made using PCR and reaction using primers. Different sized products deciphered using gel electrophoresis and electronically labeled