Single-Gene Mutations cause Human Disease

Question 1

what’s a monogenic disease caused by

Answer 1

different types of single-gene mutations

Question 2

e.g of a monogenic disease

Answer 2

huntington disease

cystic fibrosis

Question 3

what do about 15% of all point mutations cause

Answer 3

abnormal mRNA splicing

Question 4

what’s the most common type of single-gene disease in the world

Answer 4

beta-thalassemia

Question 5

symptoms of beta-thalassemia

Answer 5

weakness
jaundice
enlarged organs

Question 6

what do a lot of individuals with 20+ different human disorders have

Answer 6

abnormally large repeat sequences

Question 7

why can trinucleotide repeats cause proteins to abnormally aggregate

Answer 7

as they can be translated into long tracks of glutamine

Question 8

what happens when repeats are outside of coding regions, but in mRNA

Answer 8

mRNAs may act as toxic RNAs that bind to important regulatory proteins, causing function changes

Question 9

why might repeat regions cause gene silencing

Answer 9

as they may get abnormally methylated