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Transcript of Cystic Fibrosis
Cystic Fibrosis is a disease that affects the respiratory system, pancreas, reproductive system, and digestive system.
By Lauryn Robbins and Nicole Wong
What Causes Cystic Fibrosis?
mutations in the Cystic Fibrosis transmembrane conductance regulator protein
Autosomal recessive disorder- getting the disease from both parents
deletion of one phenylalanine amino acid at position 508 in CFTR Protein
How Many People
1 in 4 children will have CF
1 in 2 children will be a carrier but not have CF
30,000 Americans have CF, and there are an estimated
1,000 new cases diagnosed each year
occurs commonly among Caucasians of Northern European descent
Gene ID: NM_000492
Genomic sequence of gene: 188700 bp
Coding sequence: 6132 bp
Official Symbol: CFTR
Cytogenic Location: 7q31.2 on chromosome base pair 117, 470,771 to base pair 117, 668, 664
Normal Function of CFTR:
protein functions to channel across the membrane of cells
produces mucus, sweat, saliva, tears, and digestive track
Channel transports chlorine ions in and out of the cells
regulates the water movement in tissues
thick mucus builds up in lungs, pancreatic duct, and digestive system
Clogs the lungs and leads to life-threatening lung infections
Obstructs pancreas and stops natural enzymes from helping the body break down food and absorb vital nutrients
Treating Cystic Fibrosis
no known cure
However are steps to prevent infection
removing thick mucus from lungs
preventing blockages in intestines
providing enough nutrition
measuring concentration of a person's sweat
high concentration of salt is a sign of CF
Genetic Counseling Issues
autosomal recessive disorder
newborn screening programs
Differences in CFTR
transports various molecules across extra- and intra-cellular membranes
functions as chloride channel
controls regulation of other transport pathways
Number of Exons
Mutation on Chromosome 7
Number of Phenotypes on Chromosome: 157
Number of Genotypes on Chromosome: 2056
The protein is made of two, six span membrane bound regions each connected to a nuclear binding factor which binds ATP.
Many of the mutations identified in CF occur in the first nucleotide binding domain (NBD1).
Irregular proteins cause chloride channels to either close completely or disappear entirely.
T GGT GTT
ATC ATT GGT GTT
isoleucine isoleucine glycine valine