Genetic diseases - modes of inheritance

Question 1

NF1 mutation

Answer 1

NF1 gene on Chr 17

Question 1

Sickle cell anemia mode of inheritance

Answer 1

AR

Question 2

Thalassemia’s mode of inheritance

Answer 2

AR

Question 2

Hemophilia A and B mode of inheritance

Answer 2

XR

Question 3

Hereditary spherocytosis inheritence

Answer 3

Autosomal dominant

Question 4

NF2 inheritance

Answer 4

AD

Question 4

Tuberous sclerosis inheritance

Answer 4

AD

Incomplete penetrance

Question 4

Cystic fibrosis mode of inheritance

Answer 4

AR

Question 4

PKU mode of inheritance

Answer 4

AR

Question 4

G6PD deficiency mode of inheritance

Answer 4

XR

Question 6

Marfan syndrome mjutation

Answer 6

Fibrillin-1 gene

Question 7

Duchenne and Becker muscular dystrophies mode of inheritance

Answer 7

XR

Question 8

Albinism mode of inheritance

Answer 8

AR

Question 9

Elfin facies, intellectual disability, hypercalcemia, well developed verbal skills, extreme friendliness with strangers, cardiovascular problems

Answer 9

Williams syndrome - congenital microdeletion of long arm of Chr 7

Question 11

MEN 2A and 2B mutation

Answer 11

Ret gene mutation

Question 12

Von hippel lindau disease mutation

Answer 12

VHL gene on Chromosome 3

3 words for Chromosome 3

Question 12

Mutation in CF

Answer 12

CFTR gene on Chromosome 7

Phe508 deletion

Question 13

What chromosome pairs are commonly involved in Robertsonian translocation

Answer 13

13, 14, 15, 21, and 22

Question 14

What does dystrophin do

Answer 14

Connects actin to transmembrane proteins alpha and beta dystroglycan that are connected to ECM

Question 15

Myotonia, muscle wasting, frontal balding, cataracts, testicular atrophy, arrhythmia

Answer 15

Myotonic Type 1 muscular dystrophy

Question 16

Wilson disease mode of inheritance

Answer 16

AR

Question 17

Sphingolipidoses mode of inheritance

Answer 17

AR (except Fabry)

Question 17

Fragile X syndrome mutation

Answer 17

X linked defect affecting FMR1 gene expression

Trinucleotide repeat disorder CGG

Question 17

Williams syndrome defect

Answer 17

Microdeletion of long arm of Chr 7

Question 18

Numerous benign hamartomas

Answer 18

Tuberous sclerosis

Question 19

Mutation in Duchenne

Answer 19

Frameshift mutation leading to truncated dystrophin protein

Question 21

ADPKD mutation + location

Answer 21

PKD 1 - Chr 16 16 letters in polycystic kidney

Question 23

Kartagener syndrome mode of inheritance

Answer 23

AR

Question 24

Velocardiofacial syndrome

Answer 24

22q11 deletion

Question 26

Marfan syndrome inheritance

Answer 26

AD

Question 28

Huntington disease mutation

Answer 28

CAG repeat on chromosome 4 Hunting 4 food

Question 29

Mucopolysaccharidoses mode of inheritance

Answer 29

AR (except Hunter)

Question 30

Myotonic type 1 muscular dystrophy mutation

Answer 30

CTG trinucleotide repeat expansion in DMPK gene

Question 31

Hemochromatosis mode of inheritance

Answer 31

AR

Question 32

infantile polycystic kidney disease mode of inheritance

Answer 32

AR

Question 32

Glycogen storage diseases mode of inheritance

Answer 32

AR

Question 33

Familial adenomatous polyposis mutation

Answer 33

Chr 5 (APC gene) 5 letters in polyp

Question 34

Ornithine transcarbamylase deficiency mode of inheritance

Answer 34

XR

Question 35

Ocular albinism mode of inheritance

Answer 35

XR

Question 36

Telangiectasias, recurrent epistaxis, skin discolorations, AVMs, GI bleeding, hematuria

Answer 36

Hereditary hemorrhagic telangectasia

Question 37

Ragged red fibers

Answer 37

Mitochondrial myopathy - transmitted only through mother

Question 39

Wiskott-Aldrich syndrome mode of inheritance

Answer 39

XR

Question 40

Bruton agammaglobulinemia mode of inheritance

Answer 40

XR

Question 41

Von Hippel Lindau disease inheritance

Answer 41

AD

Question 42

Mutation in Becker's muscular dystrophy

Answer 42

X linked point mutation in dystrophin No frameshift

Question 43

Lesch-Nyhan syndrome mode of inheritance

Answer 43

XR

Question 45

Hypophosphatemic rickets mode of inheritance

Answer 45

X-linked dominant

Question 46

Fabry disease mode of inheritance

Answer 46

XR

Question 47

What is the mutation in Cri du chat

Answer 47

Congenital microdeletion of short arm of chromosome 5

Question 48

NF1 inheritance

Answer 48

AD

Question 49

What are the trinucleotide repeat expansion diseases

Answer 49

Fragile X - CGG Friedreich ataxia - GAA Huntington disease - CAG Myotonic dystrophy - CTG