Genetic Diseases

The video explores the complexity of genetic pathways and focuses on single gene disorders, also known as monogenic disorders. It explains the inheritance patterns of these disorders, including autosomal dominant, autosomal recessive, and X-linked diseases. The video provides detailed insights into specific disorders such as cystic fibrosis, muscular dystrophy, and fragile X syndrome, discussing their genetic causes, symptoms, and prevalence. The importance of understanding genetic diseases for better treatment and quality of life is emphasized.

What is a monogenic disorder?

• A disorder caused by multiple gene mutations

• A disorder caused by viral infections

• A disorder caused by a single gene mutation

• A disorder caused by environmental factors

Which of the following is true about autosomal recessive disorders?

• Only one altered gene is needed to express the disorder

• Two altered genes are needed to express the disorder

• The disorder is caused by environmental factors

• The disorder is always X-linked

What is the primary function of the CFTR protein?

• Transporting oxygen into cells

• Transporting chloride ions into and out of cells

• Regulating blood pressure

• Producing insulin

Which gene mutation is responsible for Duchenne and Becker muscular dystrophy?

• CFTR gene

• BRCA1 gene

• FMR1 gene

• DMG gene

What is the role of dystrophin in muscle cells?

• It regulates blood sugar levels

• It transports oxygen in the blood

• It strengthens muscle fibers and prevents injury

• It helps in the production of insulin

What type of mutation causes Fragile X syndrome?

• A deletion or expansion of a repeated DNA sequence

• A single nucleotide polymorphism

• A viral infection

• A translocation of chromosomes

Which of the following is a common symptom of Fragile X syndrome?

• High blood pressure

• Delayed speech and language development

• Excessive sweating

• Frequent headaches