Inherited Diseases

Question 1

What are the 2 mutations possible responsible for ADPKD?

Answer 1

PKD1

PKD2

Question 2

What chromosome?

PKD 1

Answer 2

Chromosome 16

Question 3

What chromosome?

PKD 2

Answer 3

Chromosome 4

Question 4

Which gene is responsible for familial adenomatous polyosis?

Answer 4

APC gene

Question 5

What chromosome?

APC gene

Answer 5

Chromosome 5

Question 6

Inheritance pattern of familial hypercholesterolemia?

Answer 6

AD

Question 7

Inheritance pattern of hereditary spherocytosis?

Answer 7

AD

Question 8

The trinucleotide repeat for huntington disease is associated with which chromosome?

Answer 8

Chromosome 4

Question 9

What chromosome is marfan syndrome FBN1 associated with?

Answer 9

Chromosome 15

Question 10

What is the interitance pattern of MEN syndromes?

Answer 10

AD

Question 11

What chromosome is NF1 gene on?

Answer 11

Chromosome 17

Question 12

What chromosome is NF2 gene on?

Answer 12

Chromosome 22

Question 13

What chromosome is the VHL gene on?

Answer 13

Chromosome 3

Question 14

What is the inheritance pattern of VHL?

Answer 14

AD

Question 15

What is the inheritance pattern of NF2 and NF 1?

Answer 15

AD

Question 16

What chromosome is the CFTR gene on?

Answer 16

Chromosome 7

Question 17

What is the mutation in CFTR gene/

Answer 17

Phe 508

Question 18

What does CFTR encode?

Answer 18

ATP gated Cl- channel (that secretes Cl- in lungs and GI tract and reabsorbes Cl- in sweat glands)

Question 19

What does the CFTR mutation result in?

Answer 19

Misfolded protein leading to the protein being retained in the RER and NOT transported to the cell membrane

Question 20

What is the inheritance of lesch- Nyhan syndrome?

Answer 20

X linked

Question 21

What is the inheritance of cystic fibrosis?

Answer 21

AR

Question 22

Why is the mucus so thick in Cystic fibrosis?

Answer 22

Because increased intracellular Cl- leads to increased Na reab–> increased H2O reabsorption–> abnormally thick mucus

Question 23

Inheritance pattern of Kartagener syndrome?

Answer 23

AR

Question 24

Inheritance pattern of albinism?

Answer 24

AR

Question 25

What is the inheritance pattern of bruton agammaglobinulemia?

Answer 25

X lined recessive

Question 26

What is the inheritance pattern of hemophelia A/ B?

Answer 26

X liked recessive

Question 27

What is the inheritance pattern of ornithine transcarbamylase deficiency?

Answer 27

x linked recessive

Question 28

What is the inheritance pattern of DMD and BMD?

Answer 28

X linked recessive

Question 29

What is the type of mutation seen in DMD?

Answer 29

Frameshift mutation leading to a truncated dystrophin protein

Question 30

What type of mutation is seen in BMD?

Answer 30

non-frameshift insertion--> partially functional

Question 31

"X linked defect affecting the methylation and expression of FMR1 gene"

Answer 31

Fragile X Syndrome

Question 32

What are the symptoms of Fragile X?

Answer 32

eXtra large testes, jaw and ears

Question 33

What is the mutation in fragile x?

Answer 33

Trinucleotide repeat disorder

Question 34

CGG repeat?

Answer 34

Fragile x

Question 35

GAA

Answer 35

friedreich ataxia

Question 36

CAG

Answer 36

huntinton

Question 37

CTG

Answer 37

myotonic dystrophy

Question 38

Trisomy 18

Answer 38

Edwards syndrome

Question 39

Rocker bottom feet, micrognathia, low set ears?

Answer 39

Edwards syndrome

Question 40

Amniotic fluid levels of beta hCG, aFP, estriol and inhibin A in Edwards Syndrome?

Answer 40

All decreased

Question 41

Amniotic fluid levels of beta hCG, aFP, estriol and inhibin A in Down Syndrome?

Answer 41

increased beta hCG and inhibin A decreased aFP and estriol

Question 42

Trisomy 13?

Answer 42

Patau syndrome

Question 43

"severe intellectual disability, rocker bottom feet, cleft lip and palate, holoprosencephaly, death within 1 year"

Answer 43

patau syndrome

Question 44

What chromosome is DiGeorge Syndrome associated with?

Answer 44

Chromosome 22