Mendelian diseases

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Mendelian diseases

  1. 1. MENDELIAN DISEASES TOBIN K DOMINIC
  2. 2. INTRODUCTION <ul><li>Genetic Disorders </li></ul><ul><ul><li>Chromosomal abnormalities </li></ul></ul><ul><ul><li>Mendelian diseases </li></ul></ul><ul><ul><li>Multifactorial diseases </li></ul></ul>
  3. 3. MENDELIAN DISEASES <ul><li>Definition: Diseases in which the phenotypes are largely determined by the action, lack of action, of mutations at individual loci. </li></ul><ul><li>Rare 1 % of all live born individuals </li></ul><ul><li>4 types of inheritance </li></ul><ul><li>: Autosomal dominant </li></ul><ul><li>: Autosomal recessive </li></ul><ul><li>: X linked dominant </li></ul><ul><li>: X linked recessive </li></ul>
  4. 5. <ul><li>Offspring has a 50:50 chance of being affected </li></ul><ul><li>Both sexes equally affected </li></ul><ul><li>Examples </li></ul><ul><li>ABO Blood Group System </li></ul><ul><li>Retinoblastoma </li></ul><ul><li>Neurofibromatosis </li></ul><ul><li>Marfans syndrome </li></ul><ul><li>Familial polyposis coli </li></ul>
  5. 7. <ul><li>Probability 25% (1:4) </li></ul><ul><li>Both sexes equally affected </li></ul><ul><li>Examples </li></ul><ul><li>Hemoglobinopathies: sickle cell anaemia,thalassemia </li></ul><ul><li>Inborn errors of metabolism:PKU,Alkaptonuria…… </li></ul><ul><li>Albinism </li></ul><ul><li>Cystic Fibrosis </li></ul><ul><li>Hirschsprung disease </li></ul>
  6. 9. <ul><li>A mutant gene on X chromosome in males will express itself readily as there is no normal allele, but a mutant gene on X chromosome of females will not express itself in the presence of a normal allele </li></ul><ul><li>Examples </li></ul><ul><li>Hemophilia </li></ul><ul><li>Colour blindness </li></ul><ul><li>Duchenne muscular dystrophy </li></ul><ul><li>G6PD deficiency </li></ul>
  7. 10. X linked dominant affected father
  8. 11. <ul><li>Daughters are affected, sons escape </li></ul><ul><li>Examples </li></ul><ul><li>Vitamin D resistant Rickets </li></ul><ul><li>Familial hypophosphatemia </li></ul><ul><li>Blood group Xg </li></ul>
  9. 12. PREVENTION AND CONTROL <ul><li>General health promotion </li></ul><ul><li>Specific protection </li></ul><ul><li>Early diagnosis and Rx </li></ul><ul><li>Rehabilitation </li></ul>
  10. 13. General health promotion <ul><li>Eugenics </li></ul><ul><li>Euthenics </li></ul><ul><li>Genetic counseling </li></ul><ul><li>Genetic preventive measures </li></ul>
  11. 14. Eugenics <ul><li>- </li></ul><ul><li>+ </li></ul>
  12. 17. Euthenics
  13. 18. Genetic counseling <ul><li>Prospective </li></ul><ul><li>retrospective </li></ul>
  14. 19. Preventive measures
  15. 20. SPECIFIC PROTECTION
  16. 21. EARLY DIAGONOSIS & RX <ul><li>Detection of carriers </li></ul><ul><li>Prenatal diagnosis </li></ul><ul><li>Neonatal screening </li></ul><ul><li>Recognizing preclinical cases </li></ul>
  17. 22. REHABILITATION

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