Loss/Gain/Novel and Trinucleotide Repeats

Question 1

Loss of Function Examples

Answer 1

Duchene Muscular Distrophy (large deletion)
Alpha/Beta Thalassemia
Turner Synd
Hereditary Neuropathy with liability to pressure palsies
Osteogenesis Imperfecta Type 1
PKU

Question 2

Gain of Function Examples

Answer 2

Hemoglobin Kempsey
Charcot Marie Tooth
Achondraplasia

Question 3

Novel Property Mutation Examples

Answer 3

Sickle Cell Anemia

Osteogenesis 2,3,4

Question 4

Ectopic of Heterochronic Expression Mutation Examples

Answer 4

Hereditary Persistence of Fetal Hemoglobin

Oncogenes (cancers)

Question 5

Duchene Muscular Dystrophy

Answer 5

Loss of function

Question 6

Hemoglobin Kempsey

Answer 6

Gain of Function

Question 7

Sickle Cell Anemia

Answer 7

Novel Property Mutation

Question 8

PKU

Answer 8

Loss of Function

Question 9

Turner Synd

Answer 9

Loss of Function

Question 10

Osteogenesis Type 2,3,4

Answer 10

Novel Property Mutation

Question 11

Hereditary Persistence of Fetal Hemoglobin

Answer 11

Heterochronic Expression Mutation

Question 12

Achondroplasia

Answer 12

Gain Of Function

Question 13

Thalassemia

Answer 13

Loss of function

Question 14

Osteogenesis Type 1

Answer 14

Loss of Function

Question 15

Oncogenes (cancers)

Answer 15

Heterochronic Expression Mutation

Question 16

CGG repeat

Answer 16

Fragile X Synd, LOSS of Function. In the 5’ UTR region

Fragile X associated Tremor/Axatia Synd. (FXATS) - GAIN of Function, Also in 5’ UTR

Question 17

GAA repeat

Answer 17

Freidrich Ataxia, Loss of Function, INtron

Question 18

CCUG repeat

Answer 18

Myotonic Dystrophy 2, Intron, Novel Mutation

Question 19

CAG repeat

Answer 19

Huntington’s Disease, EXON, Novel Mutation (Huntington has paternal anticipation)

Question 20

CUG repeat

Answer 20

Myotonic Dystrophy 1, Novel Mutation, 3’ UTR, (Maternal Anticipation)