TNR & Non-Mendelian Diseases

Question 1

(This disorder) has ___ CAG repeats.

It is expressed in (this region of the mRNA).

Answer 1

Huntington’s Disease

>39 repeats; Exon

Question 2

(This disorder) has CTG expansion repeats.

It is expressed (in this region) of the mRNA.

Answer 2

Myotonic Dystrophy

3’ UTR

Question 3

(This disorder) has GAA expansion repeats.
It is expressed (in this region) of the mRNA.
Threshold is ___ repeats.

Answer 3

Friedreich’s Ataxia
Intron
70

Question 4

(This disorder) has CGG expansion repeats.
It is expressed (in this region) of the mRNA.
Threshold is ___ repeats.

Answer 4

Fragile X Syndrome
5’ UTR
>200

Question 5

A patient comes into the clinic presenting the following symptoms. What may be his diagnosis? 
Spinocerebellar ataxia,
Saccadic eye movement
neuronal symptoms, 
dementia, 
depression,
Choreiform movements

Answer 5

Huntington’s Disease Symptoms

Question 6

A patient comes into the clinic presenting the following symptoms. What may be her diagnosis?
Mild learning disability
Language difficulty
Mild display of autistic symptoms

Answer 6

Fragile X Syndrome

Question 7

A patient comes into the clinic presenting the following symptoms. What may be his diagnosis?
High mitochondrial expression in active tissues
-Example tissues: ___________ or ___________
Diabetes, Cardiomyopathy
Ataxic gait (imbalance)

Answer 7

Friedreich’s Ataxia

Cardiac, skeletal

Question 8

A patient comes into the clinic presenting the following symptoms. What may be his diagnosis?
Low muscle tone
Type II Diabetes
Cardiomyopathy

Answer 8

Myotonic Dystrophy

Question 9

TNR levels (Normal:\_\_\_) and (Disease:\_\_\_)
and inheritance pattern of Huntington's Disease.

Answer 9

Normal 6-26; Disease > 36

Autosomal Dominant

Question 10

Huntington’s Disease

Inheritance pattern) and (pathogenesis

Answer 10

Autosomal Dominant (paternal)
Polyglutamine misfolding

Question 11

Myotonic Dystrophy

Inheritance pattern) and (pathogenesis

Answer 11

Autosomal Dominant (maternal, if congenital)
Expanded repeats make defective mRNA.

Question 12

Friedreich’s Ataxia

Inheritance pattern) and (pathogenesis

Answer 12

Autosomal recessive

Defective Frataxin gene is expressed in mitochondria of cells in the heart and pancreas

Question 13

Fragile X Syndrome

Inheritance pattern) and (pathogenesis

Answer 13

X-linked recessive (maternal transmission)

Methylated FMR1 gene leads to misregulation/ sequestration of mRNAs

Question 14

Paternal deletion (missing gene products)
Symptoms - Cognitive impairment, obesity, short stature, hypotonia (weak muscle tone)

Answer 14

Prader-Willi Syndrome

Question 15

Maternal deletion (missing Ubiquitin gene, build up of unfolded proteins)
Symptoms - more SEVERE; accumulated proteins wreak havoc on cell maintenance; victim is nonverbal; always smiling

Answer 15

Angelman Syndrome