Mutations and Environmental Factors

Flashcards covering key concepts related to mutations, their causes, genetic disorders, and ethical considerations in genetic testing.

Mutation

A change in the DNA sequence that can disrupt gene expression.

Hereditary Mutation

A mutation that is passed from parents to offspring.

Environmental Factor

External elements, such as UV radiation or toxins, that can cause mutations.

Cystic Fibrosis

A genetic disorder caused by mutations in the CFTR gene, affecting the respiratory and digestive systems.

Gene Sequencing

A method used to determine the order of nucleotides in DNA, helping to identify mutations.

Karyotyping

A laboratory technique that visualizes chromosomes to detect genetic disorders.

Genetic Counselling

A process of providing information and support to families about genetic disorders.

Acquired Mutation

A mutation that occurs due to environmental exposure, not inherited.

Ethical Considerations in Genetic Testing

Concerns related to privacy, discrimination, and the sanctity of life that arise from genetic testing practices.

Sickle Cell Anaemia

A genetic disorder caused by mutations in the HBB gene, leading to abnormal hemoglobin.

Haemochromatosis

A genetic disorder characterized by excessive iron accumulation in the body, due to mutations affecting iron metabolism.