PTH241 Mode of Inheritance Fall 2024 Galala University PDF

PTH241 Mode of Inheritance Hanan H. Fouad Professor of Medical Biochemistry & Molecular Biology Fall 2024 Galala University gu.edu.eg  G A L A L A U N I V E R S I T Y...

PTH241 Mode of Inheritance Hanan H. Fouad Professor of Medical Biochemistry & Molecular Biology Fall 2024 Galala University gu.edu.eg  G A L A L A U N I V E R S I T Y T H E F U T U R E S T A R T S H E R E Lec 3. PTH241 Mode of Inheritance Hanan H. Fouad Professor of Medical Biochemistry & Molecular Biology Galala University T H E F U T U R E S T A R T S H E R E 10/16/2024 Intended Learning Outcomes By the end of this practical session, you should be able to: 1. Recognize genetic terms related to mode of inheritance. 2. Compare and contrast the characteristics, outcome of autosomal, sex-linked, dominant and recessive mode of inheritance. 3. Practice the prediction of the probability of all genotypic and phenotypic outcomes of a trait based on parental genotypes and mode of inheritance. 4. Describe examples of mendelian mode of inheritance Important terms in inheritance What is segregation? Segregation is the separation of allele pairs (different traits of the same gene) during meiosis so that they can transfer specifically to separate gametes. Pedigree: A diagram of a family history indicating the family members, their relationship to the proband, and their respect to a particular hereditary condition. Law of Independent assortment (youtube.com) 8 F = Filial: Filus = son, Filia = daughter 9 15 1- Autosomal Dominant Inheritance 1- Autosomal Dominant Inheritance 18 19 20 21 22 N 23 2- Autosomal Recessive Inheritance AR inheritance examples cystic fibrosis, sickle cell anemia, Tay-Sachs disease B Thalassemia The diseases skipped in the 2nd generation  N Carrier  X-linked Dominant (XLD) Inheritance XLD inheritance examples Vitamin D resistant rickets: X-linked hypophosphatemia (X-linked hypophosphatemic rickets) Fragile X Syndrome  4- X-linked Recessive (XLR) Inheritance Characteristics: ▪ Clinical phenotype are always expressed in males but are usually not expressed or rarely expressed in females. ▪ One mutant copy of a gene on the X chromosome is sufficient to manifest the condition in males. ▪ No male-to-male transmission (i.e. fathers to sons), The sons of affected male with an XLR disorder will not be affected. ▪ Unaffected males do not transmit the disorder.  4- X-linked Recessive (XLR) Inheritance Characteristics: ▪ All the daughters of affected male will carry one copy of the mutated gene (heterozygous carrier). ▪ A woman who is a carrier (unaffected) of an XLR 50% chance of having sons who are affected. 50% chance of having daughters who are carriers.  4- X-linked Recessive (XLR) Inheritance XLR inheritance examples Haemophilia A (factor VIII), Haemophilia B (factor IX) Duchenne muscular dystrophy  MITOSIS VIDEO https://www.youtube.com/watch?v=DwAFZb8juMQ&t=1s 31  MEIOSIS VIDEO https://www.youtube.com/watch?v=Htpn94ToPEg 32 Any questions? Thank You gu.edu.eg