8. Rearrangements in Cancer Cells Chromosomal breaks produce fusion genes These cause leukemias and lymphomas D iagnosis determines treatment and prognosis
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26. Easy tests 1 exon HBB Beta thalassemia 1 common mutation SMN1 Spinal muscular atrophy 1 common mutation HBB Sickle cell anemia 1 common mutation PMP22 Hereditary neuropathy (HNPP) 2 common mutations HFE Hemochromatosis type1 1 common mutation GJB2 Deafness Common mutations CFTR Cystic fibrosis 1 common mutation PMP22 Charcot-Marie-Tooth Type 1A 2 common mutations PI Alpha 1 antitrypsin Repeat SCA1,2, 3, 6, 7, 8,10, 12,17 Spinocerebellar ataxia Repeat DMPK Myotonic dystrophy type 1 Repeat AR Kennedy Repeat HD Huntington type 1 Repeat DRPLA Haw River Repeat FRDA Friedreich ataxia Repeat FMR2 FRAXE Repeat FMR1 Fragile X Mutation Gene Disease
27. Difficult tests Private MSH6 Private MSH2 Private MLH1 Colon cancer Private BRCA2 Private BRCA1 Breast cancer Mutation Gene Disease
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35. Common genetic diseases Easy / cheap Only 1 exon HBB variable variable Beta Thalassemia Easy / cheap Only 1 mutation SMN1 1 / 10.000 1 / 10.000 SMA Easy / cheap Only 1 mutation FMR1 1 / 5.000 1 / 5.000 Fragile X syndrome Easy / cheap 1 common mutation GJB2 1 / 4.000 1 / 1.500 Prelingual deafness Easy / cheap Common mutations CFTR 1 / 2.500 1 / 2.500 Cystic fibrosis Complicated / expensive Mutations in 19 exons Mutations in 16 exons Mutations in 10 exons Mutations in 15 exons Mutations in 16 exons MLH1 MSH2 MSH6 APC MUTYH 1 / 1.000 1 / 25 Colorectal Cancer Complicated / expensive Mutations in 16 exons LDLR 1 / 750 1 / 500 Hypercholesterolemia Complicated / expensive Mutations in 23 exons Mutations in 28 exons BRCA1 BRCA2 1 / 500 1 / 20 Breast Cancer Easy / cheap 2 common mutations HFE 1 / 400 1 / 600 Hemochromatosis Conclusion Mutations Genes Mutation Frequency Disease