1. FOLLOWING PATTERNS OF INHERITANCE

2. GENETIC TESTS Types of Genetic Tests a)Karyotype b)Fluorescence in situ hybridization c)Gene testing d)Biochemical testing

3. GENETIC TESTS a)KARYOTYPE - Analysis of chromosome structure and number

4. GENETIC TESTS b)FLUORESCENCE IN SITU HYBRIDIZATION (FISH) -Analysis of details of chromosomal abnormalities -Using fluorescence to visualize a targeted region of a chromosome

5. GENETIC TESTS b)FLUORESCENCE IN SITU HYBRIDIZATION (FISH)

6. GENETIC TESTS c)GENE TESTING - Analysis of mutations in the DNA sequence of a gene

7. GENETIC TESTS c)GENE TESTING

8. GENETIC TESTS d)BIOCHEMICAL TESTING - Analysis of abnormal enzymes and other proteins

9. GENETIC TESTS CYSTIC FIBROSIS -Discovery of the gene: 1989, Hospital for Sick Children in Toronto, Lab of Lap-Chee Tsui -Gene on chromosome 7, mutation of CFTR gene (over 1600 different mutations) -Genetic test: 85-90% effective -Affects 1/3600 Canadian children; Carrier 1/25 Canadians

10. GENETIC TESTS HUNTINGTON DISEASE -Gene Huntingtin; first human disease mapped to a chromosome -Gene on chromosome 4, determined by CAG repeats (greater than 35 is affected)

11. GENETIC COUNSELLING GENETIC COUNSELLOR: health care professional specializing in medical genetics and counseling - Often uses a pedigree to discuss probabilities - Can also counsel on genetic disorders that are not inherited

12. GENETIC COUNSELLING GENE THERAPY: treating genetic disorders by introducing the correct form of the defective gene into a patient’s genome - Obstacles: type of vector, poor integration of gene into chromosomes, results are short lived

13. GENETIC COUNSELLING GENE THERAPY 1.Normal gene is inserted into a vector (usually DNA of a virus but some elicit immune responses) 2.Vector enters human cells and delivers normal gene 3.Correct protein is made from the new gene

14. GENETIC COUNSELLING GENE THERAPY