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Exam 1 > Genetics > Flashcards

Genetics Flashcards

1
Q

constitutional

A

present at birth

GENETIC

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2
Q

congenital

A

present at birth

NOT NECESSARILY GENETIC

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3
Q

mosaic

A

two or more cell lines in one person

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4
Q

chimera

A

mix of cells from TWO different individuals (transplant)

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5
Q

Mendel’s Principles of Heredity

A

1) Unit inheritance
2) Segregation: genes are discrete units
3) Independent assortment

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6
Q

achondroplasia (inheritance, symptoms)

A

autosomal dominant
Short arms/legs, large head, characteristic facial features.

Heterozygous (homozygous dominant is lethal)

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7
Q

principles of autosomal dominant inheritance (& how to differentiate from x-linked inheritance)

A

Multiple generations affected.
Male to male transmission occurs (differentiates from x-linked).
Variable expressivity

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8
Q

variable expressivity

A

features vary between affected individuals (not everyone has the same symptoms)

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9
Q

Marfan Syndrome (inheritance, symptoms, mortality)

A

Autosomal dominant.
Variable expressivity.
Symptoms: bone overgrowth, joint laxity.
Mortality: aortic dilation, sudden cardiac death

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10
Q

incomplete penetrance

A

not all individuals with a mutation have phenotypic effects

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11
Q

BRCA mutation

A

incomplete penetrance.
More penetrant in women than men.
Age-dependent penetrance.

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12
Q

de novo mutations

A

new gene mutations.
occur at hotspots.
Increases with advancing paternal age.

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13
Q

Cystic Fibrosis

A

Autosomal recessive.
Pulmonary and digestive systems.
Mortality: pulmonary disease.

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14
Q

Principles of autosomal recessive inheritance

A

Usually only ONE GENERATION is affected.
Consanguinity may be present.
Complete penetrance.
Note ethnic predisposition (sickle cell)

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15
Q

Sickle Cell Anemia

A

Autosomal Recessive.

African American predisposition.

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16
Q

Hemophilia

A

X-linked recessive

Bleeding disorder, internally.

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17
Q

Principles of X-linked recessive inheritance

A

Male to male transmission NOT observed.
Males more likely than females to be affected.
Multiple generations affected.
Carrier females may show some expression due to skewed lyonization.

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18
Q

Duchenne Muscular Dystrophy

A

X-linked recessive.

Progressive disease of skeletal muscle.

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19
Q

Situations in which a female can be affected by x-linked recessive disorders.

A

45, X karyotype.
Skewed X-inactivation.
Affected father, carrier mother.
Non-X-linked recessive cause.

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20
Q

incontinentia pigmenti

A

X-linked dominant.
Disorder of skin, nails, hair, teeth, eyes, CNS.
Very rare.
Multiple miscarriages of males.

21
Q

Principles of X-linked dominant inheritance

A

Females more likely than males to be affected.
Often lethal in males.
No male-to-male transmission.

22
Q

MELAS

A

Mitochondrial inheritance.

23
Q

Myotonic Dystrophy

A

Trinucleotide Repeat Expansion.
Anticipation.
Trouble releasing muscle contraction.

24
Q

Fragile X Syndrome

A

Trinucleotide Repeat Expansion.
Anticipation.
Long face, large ears, intellectual disability.
FMR 1 gene on X chromosome.

25
Q

Pallister-Killian Syndrome

A

Somatic mosaicism.
Mosaic tetrasomy 12p (full tetrasomy lethal).
Low muscle tone, facies, developmental delays.

26
Q

gonadal mosaicism is suspected when…

A

2 offspring have autosomal dominant disorder with no family history

27
Q

genomic imprinting

A

different epigenetic modification of maternal and paternal genetic contributions to the zygote.
Affects expression

28
Q

imprinting reset

A

when forming sperm/eggs, the chromosomes reset so both have imprinting of the parent of the same sex.

29
Q

triploidy

A

3 copies of a chromosome

Some triploidy diseases of the same chromosome have different characteristics (digynic vs diandric), which is evidence for genomic imprinting.

30
Q

digynic triploidy

A

two maternal chromosomes, one paternal.

Normal fetus size, small placenta.

31
Q

Diandric triploidy

A

two paternal chromosomes, one maternal.

Small fetus, large placenta.

32
Q

Uniparental Disomy

A

Two copies from one parent, zero from the other.

33
Q

Russell Silver Syndrome

A 
Genomic imprinting.
Uniparental disomy (maternal chromosome 7)
Triangular face.
34
Q

quantitative trait

A

Mulitfactorial.
Will have differing expression of the trait based on the number of factors.
Continuous range of measurement.
Bell-shaped distribution.

35
Q

threshold trait

A

Multifactorial.
Will only have the trait if a certain number of factors are present.
No variability.
Trait is either present or absent.

EX: cleft palate.

36
Q

liability

A

total genetic and environmental factors that contribute to the development of a trait.
Differs in males vs females

37
Q

signs of multifactorial inheritance

A

1) Non-mendelian patterns of inheritance.
2) Not caused by a single gene.
3) Large variation in severity and expression.
4) Gender differences.

38
Q

greater risk for multifactorial trait if…

A

Greater severity.
Less commonly affected sex is affected.
More than 1 family member is affected.
Affected individuals are more closely related.

39
Q

the recurrence risk for first degree relatives is

A

~ the square root of the population incidence of the trait

40
Q

recurrence rate for isolated birth defects

A

4%

41
Q

heritability

A

the proportion that is due to genetics (vs environment)

(MZ-DZ)x2

42
Q

linkage analysis

A

Used to locate the causal gene.
In ONE FAMILY.
Look for region of the genome that cosegregates with the disease.
For regions with a LARGE effect.

43
Q

LOD score

A

How likely it is for 2 genetic markers to be linked.

LOD>3 —- likely to be linked.
LOD

44
Q

Association studies

A

Identify risk alleles.
In POPULATIONS.
Look at SNPs.
For SMALL overall effect.

45
Q

Alzheimer’s Disease risk factor

A

Apolipoprotein E (ApoE)

46
Q

chance of having an autosomal recessive condition: sibling of an affected individual

A

2/3

47
Q

Hardy-Weinberg Principle

A

Assume the allele frequencies are in equilibrium.
q^2 —- incidence of affected homozygotes
p^2 —- incidence of unaffected homozygotes
2pq —- incidence of heterzygotes (carriers)

48
Q

Diastrophic Dysplasia

A

Autosomal recessive.

Similar to achondroplasia but have shorter limbs.

Exam 1 (3 decks)

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