Polymorphism. Haixu Tang School of Informatics. cause inherited diseases. Genome variations. underlie phenotypic differences. Restriction fragment length polymorphism (RFLP). RFLP. Haplotype. AATG. Microsattelite (short tandem repeats) polymorphysim. 7 repeats. 8 repeats.
School of Informatics
underlie phenotypic differences
the repeat region is variable between samples while the flanking regions where PCR primers bind are constant
A or B, cannot
be excluded from
of this assault?
Marth et al.
Nature Genetics 1999
question: how to select from all available markers a subset that captures most mapping information (marker selection)How to use markers to find disease?
genome-wide, dense SNP marker map
strong association: most chromosomes carry one of a few common haplotypes – reduced haplotype diversityHaplotype diversity
2n possible haplotypes
random assortment of alleles at different sites
Daly et al.
Nature Genetics 2001
if the block structure is a general feature of human variation structure, whole-genome association studies will be possible at a reduced genotyping cost
Gibbs et al.
Nature 2003The promise for medical genetics
or M-IIb & F-IIb) ?
A freely-available public resource
to increase the power and efficiency
of genetic association studies to medical traits
High-density SNP genotyping across the genome provides information about
All data is freely available on the web for application
in study design and analyses as researchers see fit
A much more complete variation resource by which
the genome-wide map can evaluated