Autosomal dominant

Question 1

rare when a _______ dominant mutation causing disease

Answer 1

homozygous dominant

AA

Question 2

example of complete penetrance

Answer 2

achondroplasia

Question 3

achondroplasia is autosomal _____

Answer 3

dominant

Question 4

de novo mutation

Answer 4

mutations that occur in the egg or sperm or immediately after fertilzation

Question 5

de novo mutations would explain

Answer 5

autosomal dominant disorder seen in children without affected parents

Question 6

clinical achondroplasia

Answer 6

1. short
2. rhizomelic limb shortening
3. short fingers
4. genu varum
5. trident hands
6. large/frontal bossing
7. midfacial retrusion
8. small foramen magnum/ craniocervical instability

Question 7

achondroplasia is lethal in

Answer 7

homozygous dominant state

Question 8

achondroplasia gene

Answer 8

FGFR3

fibroblast growth factor receptor 3

Question 9

achondroplasia gene funct

Answer 9

regulates bone growth by limiting the formation of bone from cartilage

Question 10

achondroplasia chrom

Answer 10

4p16.3

nucleotide 1138

Question 11

achondroplasia mutation function

Answer 11

increases the activity of protein interfering with skeletal development

Question 12

____ has highest new mutation rate known in man

Answer 12

Nucleotide 1138 of FGFR3 gene

Question 13

Pure dominant

Answer 13

Homozygotes and Heterozygotes are both equally affected

Question 14

incompletely dominant

Answer 14

homozygotes are affected most severely

Question 15

reduced penetrance

Answer 15

1. retinoblastoma
2. BRCA mutation
3. huntongton’s disease

Question 16

variable expressivity examples

Answer 16

Neurofibromatosis type 1

osteoogenesis imperfect type 1

Question 17

Neurofibromatosis type 1

new mutation rate

Answer 17

50%

Question 18

Neurofibromatosis type 1

clinical

Answer 18

cafe au lair spots
neurofibromas
plexiform neurofibroma
freckling in axilla
optic glioma
lisch nodule
osseous lesions

Question 19

Neurofibromatosis type 1

mutation

Answer 19

NF1
neurofibromin tumor suppressor gene
loss of function

Question 20

Neurofibromatosis type 1

chromosome

Answer 20

17q11.2

Question 21

locus heterogeneity

Answer 21

mutation in more than one locus causing same clinical condition

Question 22

locus heterogeniety example

Answer 22

autosomal dominant polycystic kidney disease

Question 23

Autosomal dominant polycystic kidney disease

new mutation rate

Answer 23

5%

Question 24

Autosomal dominant polycystic kidney disease

clinical

Answer 24

1. bilateral renal cysts
2. cysts in other organs
3. vascular abnormalities
4. end stage renal disease

Question 25

Autosomal dominant polycystic kidney disease | mutation

Answer 25

PKD1 chromosome 16p13.3 PKD2 chromosome 4q22.1 polycystin 1 and 2 produces truncated protein

Question 26

familial hypercholesterolemia new mutation rate

Answer 26

very low

Question 27

familial hypercholesterolemia | clinical manifestations

Answer 27

high cholesterol high LDL levels xanthomas premature coronary artery disease and death

Question 28

familial hypercholesterolemia mutations

Answer 28

1. LDLK 2. APOB 3. PCSK9

Question 29

trinucleotide repeat disorders

Answer 29

1. expansion of segment of DNA consisting of 3 or more nucleotides 2. CAG 3. slipped mispairings 4. anticipation 5. parental transmission bias 6. AD, AR nd X-linked transmission

Question 30

slipped mispairing

Answer 30

1. mispairings of bases in regions of repetitive DNA replications coupled with inadequate DNA repair systems 2. as the repeat grows longer, the probability of subsequent mispairings increases

Question 31

anticipation

Answer 31

severity and onset of diseases increases in next generation

Question 32

parental transmission bias

Answer 32

trinucleotide expansion more prone to occur in gametogenesis of male or female

Question 33

Huntington's disease:

Answer 33

1. autosomal dominant 2. trinucleotide repeat disorder (CAG) 3. anticipation 4. paternal transmission

Question 34

Huntington's disease | clinical

Answer 34

progressive neuronal degeneration causing motor cognitive and psychiatric distrubences onset 35-44 death 15 years after onset

Question 35

Huntington's disease | gene

Answer 35

HTT

Question 36

Huntington's disease protein

Answer 36

huntingtin

Question 37

Huntington's disease chromosome

Answer 37

4p16.3