Scenario :
You are a third year medical student in the middle of your pediatrics rotation at Children's Hospital. You are presented with a 2-year old female patient whose parents have brought her in because she has a persistent cough and wheezing, and also appears to be underweight despite having a good appetite. The doctor ordered a sweat test, and the excessive amount of salt in the patient's sweat revealed that she likely has cystic fibrosis (CF).
Go to OMIM ( http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM&cmd=Limits ):
Study Questions:
Search the database for cystic fibrosis. Use the item titled “#219700 Cystic Fibrosis; CF” to answer the following questions
1. What gene is mutated in CF and where is it located? Is CF inherited recessively or dominantly?
2. What are the general effects of this mutated gene in the human body?
3. What is the role of the delta-F508 allele of the CFTR gene in pulmonary disease?
4. What is the genetic reason why there exists a range in the severity of CF, ranging from very mild to very severe?
5. Some CF patients are classified as “pancreatic sufficient” (CF-PS) while others with CF are classified as “pancreatic insufficient” (CF-PI). What is the genetic reason for some being CF-PS while others are CF-PI?
6. What mutation may be the cause of cirrhosis in those with CF?
7. What is the role and effects of mannose-binding lectin (MBL) variant alleles? |
