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BIL 250 Study Guide - Midterm Guide: Genetic Screen, Map, Dna Profiling

Course Code
BIL 250
Kevin Mc Cracken
Study Guide

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Genetic Mapping
Occur infrequently
Greater marker density
Major Types:
RFLP’s: sus at a restrition site
STR: short tandem repeats
STS: sequence tagged site
Genetic Map
Help sequence genome
Physical map: physically identifiable regions w/o recombination analysis
Low Res- Cytogenetic/FISH Maps
Stained chromosomes make band patterns
Relative to centromere (numbered starting with 1)
q- long arm vs. p- short arm
FISH- local sequences to chromosome maps
Physical map of overall structure of each chromosome
High Res- YAC/BAC Clone Map
Mech shear/digest genomic DNA with restriction enzymes
Entire genome or single chrom can be represented
Overlapping clones assembled into scaffold w/o sequencing by DNA fingerprinting
Cloning, Isolating, & Sequencing
Locating: easy if gene product/protein is identified
1. Create cDNA library with expression vector
2. Probe with antibodies that bind gene product
3. Isolate & sequence positive clones
Gene Product Unknown?
Identify marker (microsat, RFLP, SNP) that:
STRONG STAT ASSOC w/ disease phenotype in test crosses or genome-wide
association study (GWAS)
Physically linked to gene on same chromosome
Use positional cloning + chromosome walking to sequence
Positional Cloning used for identifying CF gene
Most common lethal genetic disease in the US (1/2000)
First human gene identified w/ this method
find more resources at
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