Genetic Disorders Flashcard

Front

What is Huntington's disease?

Back

A genetic disorder characterized by uncontrollable body movements and degeneration of the nervous system.

Front

What type of mutation is represented by the change from TTACGCAAG to TTACGCAAC?

Back

Base Substitution.

Front

What genetic disorder results from an extra copy of the 21st chromosome?

Back

Down syndrome.

Front

What is PKU?

Back

A genetic disorder related to a defective recessive gene on chromosome 12 that prevents the metabolism of phenylalanine.

Front

What type of inheritance pattern does Tay-Sachs disease follow?

Back

Autosomal recessive.

Front

Define genetic disorder.

Back

A health condition caused by abnormalities in genes or chromosomes.

Front

What is the role of chromosomes in genetic disorders?

Back

Chromosomes carry genes, and abnormalities in their number or structure can lead to genetic disorders.

Front

Explain the difference between autosomal dominant and autosomal recessive disorders.

Back

Autosomal dominant disorders require only one copy of the mutated gene to express the disorder, while autosomal recessive disorders require two copies.

Front

What is the significance of the 21st chromosome in Down syndrome?

Back

Down syndrome is caused by the presence of an extra copy of the 21st chromosome, leading to developmental and physical challenges.

Front

What is a base substitution mutation?

Back

A type of mutation where one base pair in the DNA sequence is replaced by another.