1. The structure of the genome
GENETICS
The structure of the genome

2. The structure of the genome
GENETICS
The structure of the genome
Lactase
(Lactose intolerance)
Factor V
(Thrombosis)
COL4A5
(Alport’s syndrome)
Approx different genes per chromosome

3. GENETICS
Heredity

4. Inheritance of mutations
GENETICS
Inheritance of mutations
Gender inheritance
What determines a person’s gender?

5. GENETICS A person's gender
The gender is defined by the X and Y chromosomes

6. GENETICS
A person's gender
Girl
Boy
Girl
Boy

7. The structure of the genome
GENETICS
The structure of the genome
Factor V
(Thrombosis)

8. Inheritance of mutations
GENETICS
Inheritance of mutations
Type 1: Co-dominant inheritance
= The more mutations, the higher the risk of developing disease

9. Inheritance of mutations
GENETICS
Inheritance of mutations
Factor V gene

10. Risk x80! Risk x8 Risk x8 GENETICS Inheritance of mutations Risk x8
Co-dominant inheritance
(The more defects, the higher the risk)
Risk x1
Risk x8
Risk x8
Risk x80!

11. Inheritance of mutations 50% error rate without genetic testing!
GENETICS
Inheritance of mutations
Risk x8
Risk x8
Question:
Is the family history relevant for the genetic risk?
50% error rate without genetic testing!
Risk x1
Risk x8
Risk x8
Risk x80!

12. Inheritance of mutations
GENETICS
Inheritance of mutations
Type 2: Recessive inheritance
= Disease only develops if both genes are mutated

13. Inheritance of mutations
GENETICS
Inheritance of mutations
Lactase gene

14. (nur 2 Gendefekte führen zur Krankheit) Recessive inheritance model
Rezessiver Erbgang
(nur 2 Gendefekte führen zur Krankheit)
GENETICS
Recessive inheritance model
1 "defective" gene, a functional gene, thus not lactose intolerant
1 "defective" gene, a functional gene, thus not lactose intolerant

15. 25% error rate without genetic testing!
Rezessiver Erbgang
(nur 2 Gendefekte führen zur Krankheit)
GENETICS
Question:
Is the family history relevant for the genetic risk?
25% error rate without genetic testing!

16. Inheritance of mutations
GENETICS
Inheritance of mutations
Type 3: Dominant inheritance
= One mutated gene is sufficient for full risk

17. Inheritance of mutations
GENETICS
Inheritance of mutations
HLA-B gene

18. (nur 2 Gendefekte führen zur Krankheit) Inheritance of mutations
Rezessiver Erbgang
(nur 2 Gendefekte führen zur Krankheit)
GENETICS
Inheritance of mutations
78x Risk
78x Risk
78x Risk
78x Risk
78x Risk

19. Inheritance of mutations 25% error rate without genetic testing!
GENETICS
Inheritance of mutations
78x Risk
78x Risk
Question:
Is the family history relevant for the genetic risk?
25% error rate without genetic testing!
78x Risk
78x Risk
78x Risk

20. How are genes inherited?15
End of the chapter
How are genes inherited?