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Expert: John Locke - 7/27/2009


Question
Explain how cystic fibrosis is inherited. Thanks

Answer
Cystic fibrosis (CF) is a hereditary disease characterized by dysfunctions of the secretory glands, notably displayed as thick mucus that obstructs breathing, endocrine abnormalities, and digestive dysfunction. A single gene controls the expression of CF (the cystic fibrosis trasmembrane regulator [CFTR] gene on chromosome 7); the gene in the normal form codes for the production of a chloride ion channel that is essential to normal homeostasis.

CF is inherited in an autosomal recessive fashion, meaning that two defective copies of the gene that controls CF are required for the disease to be expressed. A defective copy must be inherited from each parent in order to develop the disease. A single working copy of the gene is sufficient to prevent CF; some research suggests that having one defective and one active gene--the heterozygous state--confers some resistance to various endemic diseases found in Europe.

More information can be found here:

http://hcd2.bupa.co.uk/fact_sheets/Mosby_factsheets/Cystic_fibrosis.html

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John Locke

Expertise

I will answer all biology-related questions through the undergraduate level. I will explain unclear concepts and suggest approaches to solving problems, but would prefer not to completely solve homework problems for you. If you are completely stumped on homework, tell me what you already know and I will help you as much as possible. Please do not ask me for ideas on school research projects; part of research is determining a suitable area of investigation, and that's not a task that should be completed by someone else. Please don't simply send me your homework for solutions. If you are having difficulty after you have started an analysis, I will be happy to direct your thinking; in particular, I would prefer to not simply solve pedigrees for students, but I will be happy to assist in solving pedigrees that you have already started. If you don't understand how to analyze a pedigree, I'd highly recommend watching this video, in which a biology professor explains the basic concepts of pedigree analysis: http://www.youtube.com/watch?v=HbIHjsn5cHo

Experience

I have a BS in Bioengineering with a concentration in Chemical Engineering (which included a heavy focus on biology), and have taught biology, biochemistry, and related subjects for some time now.

Education/Credentials
BS Bioengineering, Penn State University MCAT/DAT/OAT Instructor

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