10.07.2015 Views

Genome Mapping Professor Simon G. Gregory

Genome Mapping Professor Simon G. Gregory

Genome Mapping Professor Simon G. Gregory

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<strong>Genome</strong> <strong>Mapping</strong><strong>Professor</strong> <strong>Simon</strong> G. <strong>Gregory</strong>Genetic mapping• Utilizes recombination events during meiosis between markersto establish genetic distances (centimorgan)• Requires polymorphic markers that are informative withina population of known relationship• Markers used– RFLPs’ (bi-allelic and limited in number and distribution)– VNTR’s (clustered at telomeres and not stable)– Microsatellite markers (di- tri- tetra- nucleotide repeats)– Single nucleotide polymorphisms (SNPs)…ACTT(CA 12 )TTGC…ACTT(CA 8 )TTGC…16Genes and diseaseMonogenic diseases(Single gene)• Huntington disease• SpinocerebellarAtaxia• Spastic Paraplegia• Tuberous SclerosisComplex diseases(Many genes)• Multiple Sclerosis• Cardiovasculardisease• Alzheimer disease• Parkinson diseaseEnvironmentaldiseases• Influenza• Hepatitis• Measles- Environment- Genes17Genetic disease• Mendelian diseases (rare)– Single gene• Mutations‣ Cystic Fibrosis‣ Huntington disease‣ Spastic Paraplegia‣ Tuberous Sclerosis• Complex disease (common)– Multiple genes• Polymorphisms‣ Multiple Sclerosis‣ Cardiovascular disease‣ Alzheimer disease‣ Parkinson disease18The screen versions of these slides have full details of copyright and acknowledgements6

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