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Positional Cloning

LOD. Positional Cloning. Genetics. Chromosome Region. Association Study. Sib pairs. Genomics. Candidate Gene Selection/ Polymorphism Detection. Mutation Characterization/ Functional Annotation. Physical Mapping/ Sequencing. Netherton Syndrome Linkage.

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Positional Cloning

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  1. LOD Positional Cloning Genetics Chromosome Region Association Study Sib pairs Genomics Candidate Gene Selection/ Polymorphism Detection Mutation Characterization/ Functional Annotation Physical Mapping/ Sequencing

  2. Netherton Syndrome Linkage Chavanas et al., Am J Hum Genet, 66:914-921, 2000

  3. Netherton Syndrome Haplotypes Chavanas et al., Am J Hum Genet, 66:914-921, 2000

  4. Chavanas et al. 2000, Nature Genetics

  5. Inflammatory Bowel Disease Genome Screen Hampe et al., Am J Hum Genet, 64:808-816, 1999

  6. Inflammatory Bowel Disease Genome Screen Hampe et al., Am J Hum Genet, 64:808-816, 1999

  7. 3/5 2/6 3/2 5/2 3/5 2/6 3/6 5/6 Allelic Association A Special Type of Linkage Both families are ‘linked’ with the marker, but a different allele is involved. This is Linkage but no Association

  8. 3/5 2/6 3/6 5/6 Allelic Association A Special Type of Linkage 3/6 2/4 4/6 2/6 3/2 6/2 6/6 6/6 All families are ‘linked’ with the marker Allele 6 is ‘associated’ with disease Linkage is just association within families

  9. 3/5 2/6 3/6 2/4 4/6 3/4 2/6 3/6 5/2 3/2 5/6 6/2 6/6 6/6 Allelic Association A Special Type of Linkage Controls Cases Allele 6 is ‘associated’ with disease

  10. Association study: Uses Pharmacogenetics genotyping clinically relevant samples (toxicity vs efficacy) Insurance purposes contentious, but likely at some point Candidate genes for specific diseases common practice in medicine/genetics Positional cloning the most frequent source of new loci at present Genome-wide association with 2-3 million SNPs, can search whole genome exhaustively

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