Autosomal Recessive Inheritance

Question 1

most common type of inheritance

Answer 1

autosomal recessive inheritance

Question 2

same mutation but has different phenotype in individuals affected

Answer 2

variable expressivity

Question 3

this disorder deals with variable expressivity and is tissue-specific (lungs mainly)

Answer 3

cystic fibrosis

Question 4

sx’s include:
progressive pulmonary disease**
obstructive azoospermia
elevated sweat Cl- concentration**
exocrine pancreatic insufficiency

Answer 4

cystic fibrosis

Question 5

most common fatal autosomal recessive genetic disorder of children in white populations

mutation in deltaF508 (CFTR gene)

Answer 5

cystic fibrosis

Question 6

disease that deals with compound heterozygosity and heterozygote advantage (for malaria)

Answer 6

sickle cell disease

Question 7

anemia, infarction, and functional asplenia, dactylitis (painful swelling of hands and feet); mutation in beta-globin chain leads to HbS

Answer 7

sickle cell disease

Question 8

accumulation of copper in liver, brain, and eye

Answer 8

Wilson’s Disease

Question 9

Kayser-Fleischer rings around cornea (brown ring) **
cirrhosis and hepatitis*
trouble speaking, anxiety

Answer 9

Wilson’s Disease

Question 10

mutation in ATP7 gene** that transports copper into bile and then to be excreted

Answer 10

Wilson’s disease

Question 11

defect in globin alpha chains; prenatal period

Answer 11

alpha-thalassemia

Question 12

most common mutation of alpha-thalassemia

Answer 12

deletion

Question 13

infants with severe alpha-thalassemia and high levels of Hb Bart’s (gamma4) have massive fluid accumulation

Answer 13

hydrops fetalis

Question 14

defect in beta globin chains; postnatal period

Answer 14

beta-thalassemia

Question 15

most common mutation of beta-thalassemia

Answer 15

point mutation

Question 16

mutations in dynein arms, present with respiratory distress w/in 24 hours of birth; wet cough

Answer 16

kartagener syndrome

Question 17

situs inversus totalis
infertility

Answer 17

kartagener syndrome

Question 18

mutations in PKHD1; most patients are compound heterozygotes

Answer 18

ARPKD

Question 19

presents with abdominal discomfort, mass
polyuria, polydipsia
hypertension

Answer 19

ARPKD

Question 20

difference b/t ADPKD and ARPKD

Answer 20

ADPKD: adult onset; end stage kidney disease by 60

ARPKD: pediatric onset; end stage kidney disease by 20

Question 21

most sphingolipidoses are what type of inheritance

Answer 21

autosomal recessive

Question 22

X-linked recessive sphingolipidoses

Answer 22

Fabry Disease

Question 23

deficiency in hexoaminidase A and buildup of GM2 ganglioside

Answer 23

Tay-Sachs Disease

Question 24

retinal cherry red spot on macula
no hepatosplenomegaly

Answer 24

Tay Sach’s

Question 25

disease caused by accumulation of glycogen in lysosomes

Answer 25

Pompe Disease

Question 26

mutation in acid alpha-glucosidase (accumulation of glycogen in lysosomes) myopathy, cardiomegaly

Answer 26

Pompe Disease

Question 27

"floppy baby disease"*** myopathy cardiomegaly***

Answer 27

Pompe Disease

Question 28

mucopolysaccharidosis type I; accumulation of glycosaminoglycans in lysosomes

Answer 28

Hurler syndrome

Question 29

coarse facial features corneal clouding*** alpha-L-iduronidase deficiency***

Answer 29

Hurler Syndrome