Gene mutation

What are gene mutations?

Permanent changes in DNA molecule
Mutation
Gene mutations can be:
Inherited
Acquired
Inharated mutations
Germline mutations
De novo mutations
Germline mutations
Passed from parent to child
Most common germline mutations are:
Cystic fibrosis
Down syndrome (the most common)
Cri du chat Call of the cat; Cat cry
Haemophilia
Name origins from Greek language:
haima blood
philia love
New mutations De novo mutations
Occur only in egg or sperm cell
Child with disorder has no family history od
the disease
De novo mutations cause:
Familiar adenomatus polyposis
Multiple endocrine neoplasia
Retinoblastoma
Retinoblastoma
Acquired mutations
Somatic mutations
Occur in DNA of individual cells
Environmental factors
Mutagens
Increase the rate of mutation
They are:
Cosmic rays
Viruses
Atomic radiation
Drugs
Tobacco
Pesticides
Asbestos
Soot
Polymorphisms
,,Often mutations
Keywords
gene mutations genske mutacije
inherited nasledjeno
acquired steeno
germline mutations nasledne mutacije
disorder poremedaj
somatic cell somatska delija
mutagens mutageni
Questions
1. Next statement is true or false?
Gene mutations are reversible.
2. How do gene mutations occur?
3. What are most common germline mutations?
4. Somatic mutations can be caused by?
5. Name some mutagens.