Genomics Flashcards
Genomics
Study of the genome (entire genetic material of an organism)
Structural Genomics
Study of gene structure
Cytological mapping
Banding pattern of stained chromosomes
G bands produced by Giemsa staining are rich in A:T regions (regions of compact chromatin)
Used to detect chromosomal translocations
FISH
Fluorescence in situ hybridization
Uses biotin bound probe detected with avidin bound to a fluorescent dye
Physical mapping
Arranges sequence features on a linear map
Provides location of DNA sequences on a chromosome
Contig Map
Set of overlapping genomic DNA clones ordered by restriction mapping
Presence of a particular STS or EST on a genomic fragments used to order clones to their position on a chromosome by comparing their position relative to other STS or ESTs
Sequence Tagged Sites (STS)
Short unique genomic sequences (200-500 bp), usually derived from whole genome sequencing
Expressed Sequence Tags (ESTs)
Short cDNA sequences
Genetic Mapping
Based on genetic markers that occur due to DNA polymorphisms
Relative positions of markers mapped by determining recombination frequencies in crossings or co-segregation in pedigrees
Restriction Fragment Polymorphisms (RFLP)
Occurs due to addition or deletion of RE sites
MInisatellite (Variable Number Tandem Repeates- VNTR)
Polymorphic locus of short (10-80 nucleotides) DNA sequences present as several tandem repeats of varied number
Microsatellite (Short Tandem Repeats- STR)
Same as VNTR but repeat units are shorter (~10 nucelotides)
Polymorphisms are due to varibale number or repeats between RE sites
Single Nucleotide Polymorphisms (SNPs)
Single base pair substitution within a reference sequence
Haplotypes
Set of SNPs on the same chromosome that are inherited together
Hapmap
Catalog of SNPs/haplotypes in a population that can be used for tracing evolutionary history or predicting disease susceptibility