inheritance

Question 1

ADPKD

Answer 1

AD

Question 2

Achondroplasia

Answer 2

AD

Question 3

FAP

Answer 3

AD

Question 4

Familial hypercholesterolemia

Answer 4

AD

Question 5

Osler- Weber-Rendu syndrome

Answer 5

AD

Question 6

Hereditary spherocytosis

Answer 6

AD

Question 7

Huntington

Answer 7

AD

Question 8

Marfan

Answer 8

AD

Question 9

MEN

Answer 9

AD

Question 10

Neurofibromatosis 1, 2

Answer 10

AD

Question 11

Tuberous sclerosis

Answer 11

AD

Question 12

VHL disease

Answer 12

AD

Question 13

acute intermittent porphyria

Answer 13

AD

Question 14

Albinism

Answer 14

AR

Question 15

ARPKD

Answer 15

AR

Question 16

Cystic fibrosis

Answer 16

AR

Question 17

Glycogen storage diseases

Answer 17

AR

Question 18

Hemochromatosis

Answer 18

AR

Question 19

Mucopolysaccharidoses

Answer 19

AR

Question 20

PKU

Answer 20

AR

Question 21

SCD

Answer 21

AR

Question 22

Sphigolipidoses

Answer 22

AR

Question 23

Thalassemias

Answer 23

AR

Question 24

x- linked recessive

Answer 24

"oblivious female will give her boys her x-linked disorders"
ocular albinism
Fabry disease
Wiskott-Aldrich
G6PD deficiency
Hunter syndrome
Bruton agammaglobulinemia
Hemophilia A and B
 Lesch- Nyhan syndrome
Duchenne muscular dystrophy

Question 25

Ocular albinism

Answer 25

XLR

Question 26

Fabry

Answer 26

XLR

Question 27

Wiskott-Aldrich

Answer 27

XLR

Question 28

G6PD

Answer 28

XLR

Question 29

Hunter

Answer 29

XLR

Question 30

Bruton

Answer 30

XLR

Question 31

Hemophilia A and B

Answer 31

XLR

Question 32

Lesch-Nyhan

Answer 32

XLR

Question 33

Duchenne muscular dystrophy

Answer 33

XLR

Question 34

ragged red muscle fibers seen on biopsy

Answer 34

mitochondrial myopathies with mitochondrial inheritance

Question 35

Leber hereditary optic neuropathy

Answer 35

mitochondrial inheritance

Question 36

Leigh syndrome (subacute sclerosing encephalopathy)

Answer 36

mitochondrial inheritance

Question 37

Anticipation

Answer 37

age of onset is earlier and earlier in successive generations
or, severity of disease worsens with successive generations

Question 38

incomplete penetrance

Answer 38

not all with the mutant genotype show the mutant phenotype

Question 39

codominance

Answer 39

2 alleles, neither is dominant

Question 40

variable expression

Answer 40

severity of phenotype varies from one individual to another

Question 41

pleiotropy

Answer 41

single gene has more than one effect on phenotype

Question 42

locus heterogeneity

Answer 42

mutations at different loci can produce the same phenotype

Question 43

mosaicism

Answer 43

cells in the body have different genetic makeup

Question 44

imprinting

Answer 44

phenotype differences depend on whether mutation comes from mother or father’s genetic material (PW and Angelman)

Question 45

Prader-Willi

Answer 45

deletion of father’s gene (proximal portion of chromosome 15q11-q13) on chromosome 15, with normal maternal allele inactivation, leading to a deficit of genetic material

symptoms:
hyperphagia
obesity
short stature (partial GH deficiency)
intellectual disability
behavior disorders (tantrums, skin- picking, OCD)
hypogonadotropic hypogonadism leading to genital hypoplasia
osteoporosis
delayed menarch

diagnosis: confirmed with FISH (fluorescence in- situ hybridization)

treatmen: limit access to food
GH if short stature

POP
Prader-Willi
Overeating
Paternal gene deleted

Question 46

Angelman

Answer 46

deletion of mother’s gene on chromosome 15, with normal paternal allele inactivation, leading to lack of genetic material
Angels miss their moms

symptoms:
seizure
ataxia 
inappropriate laughter
intellectual disability
"happy puppet"

MAMA
Maternal gene
Angelman
Mood
Ataxia

Question 47

Hardy-Weinberg

Answer 47

p+q=1
p*p +2pq + q*q= 1
p*p= frequency of homozygous p
q*q= frequency of homozygous q
2pq= frequency of heterozygosity