Project 1 notes Flashcards
CKB Diagnostics: biotech company dedicated to the development of … for common genetic diseases
diagnostic
The … gene may have been implicated in the development of cystic fibrosis, a genetic disease that affects the …, …, and other internal organs
CFTR; lungs; pancreas
..% of the dry weight of a cell is protein of one form or another
50
proteins are important in …, …, …, … between cells, and …
digestion; circulation; immunity; communication; motion
less than ..% of human DNA codes for proteins, the rest is … and is called …
2; non-coding; jnk
DNA between genes is called
intergenic DNA
intergenic DNA plays a role in …–controlling which genes are turned on and off at any given time. Some of these sequences code for … that directly causes and controls …
regulation; RNA; reactions in a cell
Intergenic DNA is also thought to be responsible for …, a mix-and-match process whereby several different proteins can be made from one gene
alternative splicing
mutations can lead to … or … proteins and can lead to disease
missing; malformed
mutations inherited from parents are called
germ-line mutations
some mutations happen during … while others are caused by environmental factors including …, .., and …
cell division; UV radiation; chemicals viruses
some mutations can be beneficial. over time, they create …, which keeps populations healthy. many mutations have no effect and are called …
genetic diversity; silent mutations
most inherited genetic diseases are …, which means that two copies must be inherited to get a disorder
recessive
cancer results from a series of mutations, especially in the … gene, which makes a protein that stops mutated cells from …
p53; dividing
CFTR is on
chromosome 7
cystic fibrosis occurs when a genetic mutation stops the production of a protein in cells of the lung, pancreas, and other organs. the absence of the protein impairs the cell’s ability to … into and out of the cell. this sets up secondary conditions, including the … and … in the lung
transport chloride ions; thick mucus; bacterial infections
nutritional problems caused by CF are usually solved with … lung problems are treated but not cured with … or other methods of clearing mucus, drugs that help break up the mucus, and antibiotics. when the lungs begin to fail, a lung transplant can extend life
enzyme supplements; chest percussions
symptoms of CF are persistent …, … and … stool, frequent …, chronic …, …skin, or poor …
diarrhea; smelly; greasy; pneumonia; coughing;; salty; growth
reduced penetrance and variable expressivity normally affect … patterns of inheritance but they can be seen in disorders with an autosomal recessive inheritance pattern
autosomal dominant
penetrance refers to the proportion of people with a particular genetic change who exhibit signs and symptoms of a … If some people with the mutation do not develop features of the disorder, the condition is said to have … (or …) … This often occurs with familial … syndromes
genetic disorder; reduced; incomplete; penetrance; cancer
reduced penetrance probably results from a combination of …, …, and … factors
genetic; environmental; lifestyle
variable expressivity refers to the range of … and … that can occur in different people with the same genetic condition
signs; symptoms
as with reduced penetrance, variable expressivity is probably caused by a combination of …, …, and … factors
genetic; environmental; lifestyle
