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 – bloodphilia – 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 raysVirusesAtomic radiationDrugsTobaccoPesticidesAsbestosSoot

Polymorphisms

• ,,Often’’ mutations

Keywords

gene mutations – genske mutacijeinherited – nasledjenoacquired – stečenogermline mutations – nasledne mutacijedisorder – poremećajsomatic cell – somatska ćelijamutagens – 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.