Francis Gregory L.

Ku 4/15/17

10-Fortitude Maam Hannah Gwen Balasabas

DISEASE CAUSED BY MUTATION: Cystic fibrosis

Cystic fibrosis (CF) is a genetic disorder that affects mostly the lungs, but also
the pancreas, liver, kidneys, and intestine. Long-term issues include difficulty breathing and
coughing up mucus as a result of frequent lung infections. Other signs and symptoms may
include sinus infections, poor growth, fatty stool, clubbing of the fingers and toes,
and infertility in males. Different people may have different degrees of symptoms.
CF is inherited in an autosomal recessive manner. It is caused by the presence of mutations in
both copies of the gene for the cystic fibrosis transmembrane conductance regulator (CFTR)
protein. Those with a single working copy are carriers and otherwise mostly normal CFTR is
involved in production of sweat, digestive fluids, and mucus. When CFTR is not functional,
secretions which are usually thin instead become thick. The condition is diagnosed by a sweat
test and genetic testing. Screening of infants at birth takes place in some areas of the world.
No cure for cystic fibrosis is known. Lung infections are treated with antibiotics which may be
given intravenously, inhaled, or by mouth. Sometimes, the antibiotic azithromycin is used long
term. Inhaled hypertonic saline and salbutamol may also be useful. Lung transplantation may be
an option if lung function continues to worsen. Pancreatic enzyme replacement and fat-soluble
vitamin supplementation are important, especially in the young. Airway clearance
techniques such as chest physiotherapy have some short-term benefit, but long-term effects are
unclear. The average life expectancy is between 42 and 50 years in the developed world. Lung
problems are responsible for death in 80% of people with cystic fibrosis. CF is most common
among people of Northern European ancestry and affects about one out of every 3,000 newborns.
About one in 25 people is a carrier. It is least common in Africans and Asians. It was first
recognized as a specific disease by Dorothy Andersen in 1938, with descriptions that fit the
condition occurring at least as far back as 1595. The name 'cystic fibrosis' refers to the
characteristic fibrosis and cysts that form within the pancreas.
 BENEFICIAL MUTATION: Tetrachromatic vision

Most mammals have poor color vision because they have only two kinds of cones, the retinal
cells that discriminate different colors of light. Humans, like other primates, have three kinds, the
legacy of a past where good color vision for finding ripe, brightly colored fruit was a survival
advantage.

The gene for one kind of cone, which responds most strongly to blue, is found on chromosome 7.
The two other kinds, which are sensitive to red and green, are both on the X chromosome. Since
men have only one X, a mutation which disables either the red or the green gene will produce
red-green colorblindness, while women have a backup copy. This explains why this is almost
exclusively a male condition.

But here's a question: What happens if a mutation to the red or the green gene, rather than
disabling it, shifts the range of colors to which it responds? (The red and green genes arose in
just this way, from duplication and divergence of a single ancestral cone gene.)

To a man, this would make no real difference. He'd still have three color receptors, just a
different set than the rest of us. But if this happened to one of a woman's cone genes, she'd have
the blue, the red and the green on one X chromosome, and a mutated fourth one on the other...
which means she'd have four different color receptors. She would be, like birds and turtles, a
natural "tetrachromat", theoretically capable of discriminating shades of color the rest of us can't
tell apart. (Does this mean she'd see brand-new colors the rest of us could never experience?
That's an open question.)

And we have evidence that just this has happened on rare occasions. In onestudy of color
discrimination, at least one woman showed exactly the results we would expect from a true
tetrachromat.