Lecture 1-MBG

Question 1

If a disease is RARE and autosomal recessive then

Answer 1

1. We assume that people who marry in a homozygous

Question 2

Recessive mutations involve a loss of a gain of a gene function?

Answer 2

loss of a gene function

Question 3

Recessive mutations have what 2 types of aleles

Answer 3

1. Null/Amorphic Alleles

2. Hypomorphic Alleles

Question 4

Null/Amorphic Alleles

Answer 4

1. Nonfunctional protein is produced
   OR
2. No protein is produced

Question 5

Hypomorphic Alleles

Answer 5

1. A poorly functioning protein is produced
   OR
2. Reduced amounts of a normally functioning protein is produced.

Question 6

Autosomal Dominant traits

Answer 6

-bb normal
-Bb affected heterozygote
-BB affected homozygote
huntingtons disease

Question 7

Dominant mutations (gain or loss of gene function)

Answer 7

gain and change of gene function

Question 8

Dominant mutations

Answer 8

1. Dominant Hypermorphic alles
   -Negative phenotypic consequences due to the over production of a normal protein
   OR
   -Negative phenotypic consequences due to the production of a protein with increased activity levels

Question 9

Neomorphic Alleles

Answer 9

-Negative phenotypic consequences due to the presence of an altered protein that has a new function

OR
-Negative phenotypic consequences when the altered protein interferes with the wildtype protein (Dominant negative allele)

Question 10

Autosomal Dominant traits (their genotype)

Answer 10

-The traits that are rare and dominant, affected individuals are most likely to be heterozygous (Bb)
-affected individuals usually don’t want kids
-matings between them is infrequent
there are usually Bbxbb crosses
-BbXBb are RARE

Question 11

If the trait is rare and dominant, then affected individuals are usually

Answer 11

-Heterozygous