Inherited disorders

What is a genetic disorder?

A genetic disorder is a disease caused by abnormalities in an individual's DNA.

What is cystic fibrosis?

Cystic fibrosis is a genetic disorder caused by a mutation in the CFTR gene, leading to thick mucus in the lungs and digestive system.

How is cystic fibrosis inherited?

Cystic fibrosis is inherited in an autosomal recessive manner, requiring two copies of the defective allele.

What is sickle cell anemia?

Sickle cell anemia is a genetic disorder where red blood cells become sickle-shaped, leading to blockages in blood vessels.

How is sickle cell anemia inherited?

Sickle cell anemia is inherited in an autosomal recessive manner, meaning both parents must carry the sickle cell allele.

What is Huntington’s disease?

Huntington's disease is a genetic disorder caused by a dominant allele, leading to the progressive breakdown of nerve cells in the brain.

How is Huntington’s disease inherited?

Huntington’s disease is inherited in an autosomal dominant manner, meaning only one copy of the defective gene is needed for the disorder to be expressed.

What is Down syndrome?

Down syndrome is a genetic disorder caused by having an extra copy of chromosome 21 (trisomy 21).

How is Down syndrome inherited?

Down syndrome is caused by a random error during meiosis, leading to a chromosome 21 nondisjunction.

What is the role of genetic counseling in inherited disorders?

Genetic counseling helps individuals and families understand the risks of inherited genetic disorders and make informed decisions.

What is Tay-Sachs disease?

Tay-Sachs disease is a genetic disorder caused by a deficiency of an enzyme that leads to the destruction of nerve cells in the brain and spinal cord.

How is Tay-Sachs inherited?

Tay-Sachs disease is inherited in an autosomal recessive pattern.

What is a carrier screening test?

A carrier screening test determines if an individual carries a recessive gene for a genetic disorder.

What is the role of prenatal testing for genetic disorders?

Prenatal testing can detect genetic disorders before birth, allowing for early intervention or decision-making.

How does genetic mutation lead to inherited disorders?

Mutations in specific genes can lead to inherited disorders by disrupting normal gene function.