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MENDELIAN INHERITANCE 2002

MENDELIAN INHERITANCE 2002. Genotype Phenotype Locus Allele Homozygote/ Heterozygote Compound heterozygote Proband. AD AR XLR XLD Not genetic. Mozart’s Piano Concerto in A-major is K ö chel number. A K365 B K450 C K482 D K488

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MENDELIAN INHERITANCE 2002

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  1. MENDELIAN INHERITANCE 2002 • Genotype • Phenotype • Locus • Allele • Homozygote/ Heterozygote • Compound heterozygote • Proband

  2. AD • AR • XLR • XLD • Not genetic

  3. Mozart’s Piano Concerto in A-major is Köchel number • A K365 • B K450 • C K482 • D K488 • E K491

  4. Clinical vignette • S G: 20 yo college student • Spontaneous rupture of the common iliac artery • Friable tissues, extensive bleeding • Past history: • Easy bruising • Lax joints (fingers, elbows, left shoulder) • D G: 53 yo mother of SG • Spontaneous perforation of the sigmoid colon • Past history • Easy bruising • No joint laxity • Two normal pregnancies

  5. Laboratory analysis • Skin fibroblasts: abnormal type III collagen • COL3A1 DNA analysis: Gly25Val • Diagnosis: Ehlers-Danlos Syndrome, Type IV

  6. Pedigree symbols

  7. Autosomal dominant inheritance • Vertical • Males and females affected • Males and females transmit • Each affected has one affected parent…

  8. NF1 Neurofibroma Café-au-lait

  9. Lisch Nodules

  10. Neurofibromatosis 1variable expressivity • Café-au-lait spots • Axillary freckling • Lisch nodules • Cutaneous neurofibromas • Plexiform neurofibromas • Scoliosis • CNS tumors

  11. Marfan syndrome

  12. Marfan ectopia lentis

  13. Marfan life expectancy

  14. Marfan Syndrome variable expressivity

  15. Incomplete penetrance AD Erythermalgia

  16. Achondroplasia

  17. What is the risk that this couple’s child will have achondroplasia ? • A ¼ • B ½ • C ¾ • D 1 • E 0

  18. Achondroplasia mutations in FGFR3

  19. Allelic Heterogeneity COL3A1 (EDS IV)

  20. Autosomal Recessive

  21. Autosomal Recessive • Horizontal • Males and females affected • Parents of affected are normal

  22. Autosomal recessive

  23. AD • AR • XLR • XLD • Not genetic

  24. Locus Heterogeneity congenital deafness IV-1,2,3,4,5,6 are all double heterozygotes

  25. X-linked recessive

  26. X-linked recessive inheritance • “Diagonal” • Males affected… • Transmitted by carrier females • NO male-to-male transmission • Daughters of affected males are obligate carriers

  27. X-linked recessiveinheritance

  28. X-linked dominant

  29. X-linked NOT sex-linked

  30. Mitochondrial inheritance • Mitochondrial DNA • 2 to 100 mitochondria/cell • 5 to 10 chromosomes/mitochondrium • 16.5 kb mt DNA • 37 genes • Mitochondrial inheritance • Maternal • Heteroplasmy

  31. MERRF

  32. MERRF Pedigree

  33. Heteroplasmy

  34. Myotonic Muscular Dystrophy • Most common inherited muscular dystrophy of adults • Muscle wasting—face, neck, distal muscles • Myotonia • Cardiac and smooth muscle affected • Cataracts • Immunoglobulin abnormalities • Insulin resistance • Occ. Mild MR

  35. Autosomal dominant ANTICIPATION

  36. DENIAL AIN’T JUST A RIVER IN EGYPT -Rap song

  37. The absence of evidence is NOT equivalent to evidence of absence

  38. Triplet (CTG) Repeats

  39. Repeat Expansion

  40. Triplet Repeat Diseases

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