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11 Cards in this Set

  • Front
  • Back
Gene maps
physical mapping
recomb mapping
gene - both
physical - measurements of physical distance (cyrigenetic bands to bp)

recomb - linkage to determine length
physical mapping
human genome project
NIH and Celara genomics private
genetic markers
SSLPs(simple sequence length polymorphisms ie VNTRs)
STS (sequence tag sites)

NOTE : theta = percent recomb
% of recomb (% fail to cosegregate)
LOD scores
numbers mean?
log of odds
3 or greater = strong evidence of linkage
-2 = strong evidence of no linkage
functional cloning
need to know deficient protein or enz to ID gene, limited to disease where biochemical defect can be determined and protein isolated

work backwards - prot - aa - DNA - make oligo probe - find cDNA - mutation detection assay
Candidate gene cloning
educated guess of gene involved - pick a candidate gene - ID if allelic differences are associated with the disease
positional gene cloning and positional-candidate gene cloning
physical and recomb

can track trait without knowing the cause

determine inheritance, pedigree - type each member with DNA makers, find those that assort with trait

can locate to genes 10-50cM

multiple families gives - .7 cM

then asses likelihood of error LOD

seq region using DNA lib, asses good candidate gene
how do you determine if a candidate gene is disease causing
nBLOT to detect mRNA expression pattern
wBLOT to detect protein expression
role of gene in normal function
observe patients or use knockout to determine how diff mutations effect the gene and cause disease
microarray analysis
allowing researchers to bypass many older techniques, allows tracking of the expression of new unidentified genes in different tissues
determine which marker is assoc with a given allele (M1 or M2)