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M2M Unit II > Autosomal Dominant > Flashcards

Autosomal Dominant Flashcards

1
Q

Law of Segregation

A

each parent passes one randomly selected allele for each trait

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2
Q

Law of Independent Assortment

A

separate genes are passed independently of one another

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3
Q

Autosomal Dominant traits are manifested in _______.

A

homozygotes and heterozygotes

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4
Q

Autosomal Dominant traits map to an _______.

A

autosome

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5
Q

Autosomal Dominant traits are manifested in which gender?

A

both males and females

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6
Q

Autosomal Dominant traits can be passed on by which parent?

A

either one

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7
Q

Autosomal Dominant pedigrees have ______ patterns.

A

vertical

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8
Q

It is rare to have a _______ autosomal dominant condition.

A

homozygous

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9
Q

Penetrance

A

having the genotype and showing the phenotype

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10
Q

100% penetrance means?

A

If you have the genotype, you will always show the phenotype

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11
Q

Name a disease with 100% penetrace.

A

achondroplasia

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12
Q

What is the incidence rate of achondroplasia?

A

1:15,000

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13
Q

What is the new mutation rate in achondroplasia?

A

80%

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14
Q

What are the signs and symptoms of achondroplasia?

A

short stature, Rhizomelic limb shortening, trident hands, frontal bossing, small foramen magnum, genu varum

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15
Q

Achondroplasia is caused by a ___ mutation in the _____ gene on chromosome ____.

A

amino acid substitution of G to A; FGFR3; 4

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16
Q

Paternal age effect can be seen in diseases such as _____.

A

achondroplasia

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17
Q

What is the paternal age effect due to?

A

increased error rates in spermatogenesis in older men

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18
Q

pure dominant

A

homozygotes and heterozygotes are equally affected

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19
Q

incompletely dominant

A

homozygotes are more severely affected

20
Q

Which diseases have reduced penetrance?

A

retinoblastoma, BRCA, Huntington Disease

21
Q

Achondroplasia is fatal in the ______ form.

A

homozygous

22
Q

What is the incidence rate for retinoblastoma?

A

1:15,000 live births

23
Q

Retinoblastoma associated protein regulates _____.

A

the cell cycle

24
Q

Retinoblastoma is ____ penetrant.

A

90%

25
Q

Retinoblastoma gene is ____ on chromosome ____.

A

RB1; 13

26
Q

On a pedigree, you might see incomplete penetrance when _____.

A

a generation is skipped

27
Q

expressivity

A

the degree to which the phenotype is expressed given a genotype

28
Q

Name 2 diseases with variable expressivity.

A

1) neurofibromatosis type 1

2) osteogenesis imperfecta type 1

29
Q

Neurofibromatosis type 1 incidence rate? new mutation rate?

A

1:3000 births; 50%

30
Q

How is neurofibromatosis type 1 clinically diagnosed?

A

café-au-lait spots, neurofibromas, freckling in axillary or inguinal areas, optic glioma, lisch nodules, osseous lesions, 1st degree relative

31
Q

1st degree relative

A

share 50% of your genes (parents, siblings, children)

32
Q

What is the mutation in neurofibromatosis type 1? What kind of mutation? What chromosome?

A

NF1; loss of function; 17

33
Q

What is the incidence rate of osteogenesis imperfect type 1?

A

1:30,000

34
Q

What are the signs and symptoms of osteogenesis imperfect type 1?

A

multiple fractures, mild short stature, adult onset hearing loss, blue sclera

35
Q

What is the mutation in osteogenesis imperfect type 1? What does it do? Which chromosome?

A

COL1A1; reduces collagen production by half; 7

36
Q

What is the incidence rate of Marfan Syndrome? What is the new mutation rate?

A

1:5000; 50%

37
Q

What is the mutation in Marfan Syndrome? What does it do? Which chromosome?

A

FBN1; decreases microfibrils and increases flexibility and stretching of tissues; 15

38
Q

locus heterogeneity

A

a mutation in more than one locus causing the same clinical condition

39
Q

What is an example of a locus heterogeneity disease?

A

AD polycystic kidney disease

40
Q

What is the incidence rate of AD polycycstic kidney disease? What is the de novo mutation rate?

A

1:1000; 5%

41
Q

What are the clinical symptoms of AD polycycstic kidney disease?

A

bilateral renal cycts, cysts elsewhere, vascular abnormalities, renal disease

42
Q

What is the mutation and chromosome in AD polycycstic kidney disease?

A

1) PKD1 of chromosome 16 (85% of cases)

2) PKD2 of chromosome 4 (15% of cases)

43
Q

What is the incidence rate of familial hypercholesterolemia? What is the new mutation rate?

A

1:200-500; very low

44
Q

What are the clinical manifestations in familial hypercholesterolemia?

A

very high cholesterol and LDL; xanthomas; CAD and death

45
Q

xanthomas

A

cholesterol deposits under the skin

46
Q

What is the mutation in familial hypercholesterolemia?

A

mutations of genes:

1) LDLK
2) APOB
3) PCSK9

M2M Unit II (21 decks)

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