Cystic Fibrosis Diagnosis and Genetics

The video discusses cystic fibrosis, a genetic disorder affecting the lungs and other organs. It explains the role of the CFTR protein and the genetic mutations that cause the disease, particularly the Delta F508 mutation. The video covers the inheritance pattern, symptoms, and diagnostic methods, including newborn screening and molecular diagnostics. It highlights the complexity of diagnosing cystic fibrosis due to the variety of mutations and their different implications.

Which organ is primarily affected by cystic fibrosis?

• Heart

• Lungs

• Brain

• Pancreas

What is the role of the CFTR protein in the body?

• Break down proteins

• Transport oxygen in blood

• Regulate mucus transfer in epithelial membranes

• Store genetic information

How is cystic fibrosis inherited?

• Mitochondrial

• Autosomal dominant

• X-linked recessive

• Autosomal recessive

What percentage of cystic fibrosis cases are caused by the Delta F508 mutation?

• 10-20%

• 30-40%

• 80-90%

• 60-70%

What is the primary method for newborn screening of cystic fibrosis?

• Liver function test

• MRI scan

• IRT levels measurement

• Blood glucose test

Elevated levels of which substance in sweat indicate cystic fibrosis?

• Chlorine

• Calcium

• Sodium

• Potassium

What is the first step in molecular testing for cystic fibrosis?

• Blood pressure measurement

• Liver biopsy

• Delta F508 mutation screening

• Whole genome sequencing

Why is exome sequencing recommended for cystic fibrosis diagnosis?

• It is cheaper than other methods

• It provides a complete picture of mutations

• It requires less sample material

• It is faster than other methods

What technology has made full genome sequencing easier and more informative?

• CRISPR

• NGS technology

• PCR

• Sanger sequencing

What is the significance of different mutations in cystic fibrosis?

• They are not significant in diagnosis

• They have different implications and symptoms

• They all have the same symptoms

• They only affect the lungs