What is DNA
The genetic material found in the nucleus and mitochondria
Where are genes located?
On chromosomes
Describe the human karyotype
• most are diploid (2n) + contain 23 pairs of chromosomes (2n = 46)
22 pairs = autosomes
1 par = sex chromosomes (XX f, XY m)
What does the DNA carry?
Genetic info
What can cause human genetic disease?
• chromosomal abnormalities (abnormal number OR rearranged chromosomes)
• complex OR multifactorial traits (multiple genes + environmental factors)
• Mendelian or monogenetic (mutation of single gene)