Modes of Inheritance

1. Modes of Inheritance Jonathan Wolfe Wolfson House, room 109 http://www.ucl.ac.uk/~ucbhjow/

2. Objectives - at the end of this lecture you should be able to: Identify dominant and recessive Mendelian modes of inheritance Describe reasons why some genetic diseases seem to depart from Mendelian expectations

3. Mendel�s laws 0. Genes are particulate and come in different forms known as alleles. Organisms (peas or humans!) have two copies of each gene but transmit only one to each offspring. Which one is transmitted is chosen at random. i.e. if you are heterozygous for two different alleles, the alleles will segregate from each other in your offspring. Where alleles of more than one gene are segregating, segregation at each gene occurs independently of the others.

4. Autosomal dominant inheritance All affected individuals should have an affected parent Both sexes should be equally affected Roughly 50% of the offspring of an affected individual should also be affected Huntington�s disease, Achondroplastic dysplasia, Neurofibromatosis.

5. A large autosomal dominant pedigree!

6. Autosomal Recessive Inheritance Usually there is no previous family history The most likely place to find a second affected child is a sibling of the first

7. Autosomal recessive Inbreeding increases the chance of observing an autosomal recessive condition E.g. Cystic fibrosis, sickle cell disease, Tay Sachs disease.

8. Exceptions to clear cut Mendelian inheritance Lethal alleles

9. Exceptions to clear cut Mendelian inheritance Lethal alleles Incomplete dominance

10. Exceptions to clear cut Mendelian inheritance Lethal alleles Incomplete dominance Codominance Silent alleles

11. Exceptions to clear cut Mendelian inheritance Lethal alleles Incomplete dominance Codominance Silent alleles Epistasis

12. Exceptions to clear cut Mendelian inheritance Lethal alleles Incomplete dominance Codominance Silent alleles Epistasis

13. Exceptions to clear cut Mendelian inheritance Lethal alleles Incomplete dominance Codominance Silent alleles Epistasis Pleiotropy genetic heterogeneity

14. Exceptions to clear cut Mendelian inheritance Lethal alleles Incomplete dominance Codominance Silent alleles Epistasis Pleiotropy genetic heterogeneity variable expressivity incomplete penetrance

15. Exceptions to clear cut Mendelian inheritance Lethal alleles Incomplete dominance Codominance Silent alleles Epistasis Pleiotropy genetic heterogeneity variable expressivity incomplete penetrance

16. Mitochondrial inheritance

17. Exceptions to clear cut Mendelian inheritance Lethal alleles Incomplete dominance Codominance Silent alleles Epistasis Pleiotropy genetic heterogeneity variable expressivity incomplete penetrance