Project 1 notes

Question 1

CKB Diagnostics: biotech company dedicated to the development of … for common genetic diseases

Answer 1

diagnostic

Question 2

The … gene may have been implicated in the development of cystic fibrosis, a genetic disease that affects the …, …, and other internal organs

Answer 2

CFTR; lungs; pancreas

Question 3

..% of the dry weight of a cell is protein of one form or another

Answer 3

50

Question 4

proteins are important in …, …, …, … between cells, and …

Answer 4

digestion; circulation; immunity; communication; motion

Question 5

less than ..% of human DNA codes for proteins, the rest is … and is called …

Answer 5

2; non-coding; jnk

Question 6

DNA between genes is called

Answer 6

intergenic DNA

Question 7

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 …

Answer 7

regulation; RNA; reactions in a cell

Question 8

Intergenic DNA is also thought to be responsible for …, a mix-and-match process whereby several different proteins can be made from one gene

Answer 8

alternative splicing

Question 9

mutations can lead to … or … proteins and can lead to disease

Answer 9

missing; malformed

Question 10

mutations inherited from parents are called

Answer 10

germ-line mutations

Question 11

some mutations happen during … while others are caused by environmental factors including …, .., and …

Answer 11

cell division; UV radiation; chemicals viruses

Question 12

some mutations can be beneficial. over time, they create …, which keeps populations healthy. many mutations have no effect and are called …

Answer 12

genetic diversity; silent mutations

Question 13

most inherited genetic diseases are …, which means that two copies must be inherited to get a disorder

Answer 13

recessive

Question 14

cancer results from a series of mutations, especially in the … gene, which makes a protein that stops mutated cells from …

Answer 14

p53; dividing

Question 15

CFTR is on

Answer 15

chromosome 7

Question 16

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

Answer 16

transport chloride ions; thick mucus; bacterial infections

Question 17

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

Answer 17

enzyme supplements; chest percussions

Question 18

symptoms of CF are persistent …, … and … stool, frequent …, chronic …, …skin, or poor …

Answer 18

diarrhea; smelly; greasy; pneumonia; coughing;; salty; growth

Question 19

reduced penetrance and variable expressivity normally affect … patterns of inheritance but they can be seen in disorders with an autosomal recessive inheritance pattern

Answer 19

autosomal dominant

Question 20

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

Answer 20

genetic disorder; reduced; incomplete; penetrance; cancer

Question 21

reduced penetrance probably results from a combination of …, …, and … factors

Answer 21

genetic; environmental; lifestyle

Question 22

variable expressivity refers to the range of … and … that can occur in different people with the same genetic condition

Answer 22

signs; symptoms

Question 23

as with reduced penetrance, variable expressivity is probably caused by a combination of …, …, and … factors

Answer 23

genetic; environmental; lifestyle