Fanconi Anemia
Sickle Cell Anemia
Xeroderma Pigmentosum
Cystic Fibrosis
Bloom Syndrome
100
This man discovered the genetic disorder Fanconi Anemia, among many others, during his time as a doctor.
What is Who is Guido Fanconi
100
In America, this race is usually the most effected by Sickle Cell Anemia
Who are African Americans
100
How often is DNA damaged
What is regularly
100
This organ is most seriously affected by cystic fibrosis
What is lungs
100
The rash on the face of the affected person resembles this insect
What is a butterfly
200
This is the one way to determine whether a patient is inflicted with Fanconi Anemia or not
What is hat is genetic testing
200
These red blood cells are crescent in shape
What are sickled cells
200
The history of xeroderma pigmentosum helped understand what disease
What is cancer
200
This is the gene whose mutation causes cystic fibrosis
What is CFTR.
200
Which gender is considered infertile
What is male
300
These two groups are the most at risk for carrying the Fanconi Anemia gene.
What is Eastern European Jews (Ashkenazi Jews) and South African whites (Afrikaner)
300
To treat worsening anemia and other complications of sickle cell, many people who suffer from this disorder receive these frequently
What are blood transfusions
300
The percentage of XP sufferers that suffer from neurological problem
What is 20-30%
300
This is the age by which most cystic fibrosis patients die
What is 50
300
Those affected are usually no taller than this height
What is 5 ft
400
The most common types of mutations in the Fanconi Anemia gene
What are deletion and insertion
400
The HBB gene, when functioning normally, provides instructions for
What is making beta-globin
400
Where is the XPA gene located
What is chromosome 9
400
This year was when cystic fibrosis was recognized as its own disease
What is 1938
400
Approximately what proportion of those with Bloom Syndrome are of Ashkenazi Jewish decent?
What is 1/3
500
Mutations within this gene account for more than 70% of all cases of Fanconi Anemia
What is the FANCA gene
500
This drug is used to treat sickle cell anemia by prompting the body to make fetal hemoglobin
What is Hydroxurea
500
the term for swelling or inflammation of the eyelids
What is Blepharitis
500
This is the chromosome on which the CFTR gene is found:
What is 7
500
Bloom Syndrome was first described in 1954 by this man
Who is David Bloom
Continue
ESC
Reveal Correct Response
Spacebar
M
e
n
u
Team 1
0
+
-
Autosomal Recessive Disorders
No teams
1 team
2 teams
3 teams
4 teams
5 teams
6 teams
7 teams
8 teams
9 teams
10 teams
Custom
Press
F11
Select menu option
View > Enter Fullscreen
for full-screen mode
Edit
•
Print
•
Download
•
Embed
•
Share
JeopardyLabs