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HBHD > Q1 Behavior Traits, Complex Traits, And Epigenetics > Flashcards

Q1 Behavior Traits, Complex Traits, And Epigenetics Flashcards

1
Q

a genetic etiology of autism is more likely when autistic characteristics are _______

A
  • part of a more complex picture
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2
Q

for autism there is a higher risk of recurrence when the first affected child is of the ____ commonly affected sex
- which sex is this

A
  • less commonly

- female

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3
Q

Rett syndrome is seen in which sex

- why

A
  • females

- male MECP2 variant is lethal

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4
Q

what condition shows:

  • regression of speech/motor milestones after 6-18 months
  • seizures, growth retardation and progressive cognitive and motor impairment
  • partial of complete loss of acquired purposeful hand skills with stereotypic hand movements
A
  • Rett syndrome
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5
Q

you see a child with wringing/squeezing or clapping/tapping of hands, what might they have?

A
  • Rett syndrome
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6
Q

what gene is affected in Rett syndrome?

A
  • MECP2
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7
Q

what is an example of a monogenic disorder that may present with development delay/autism

A
  • Rett syndrome
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8
Q

which is an example of an x-linked condition that is lethal in males

A
  • Rett syndrome
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9
Q

what is the 1st tier test in genetic testing for autism spectrum disorders

A
  • 3 generation family history

- chromosomal microarray

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10
Q

when do you use single-gene testing for autism

A
  • fragile X

- MECP2 spectrum disorders (Rett syndrome)

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11
Q

chromosome analysis is typically indicated to evaluate for clinically-suspected ______ or family/reproductive history suggestive of _____

A
  • aneuploidy

- rearrangments

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12
Q

copy number variants have been identified in a small number of individuals with _________
- most common deletion

A
  • schizophrenia

- 22q11 (DiGeorge)

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13
Q

what is a genome wide association study

how is this typically performed

A
  • look at markers for people who have a certain condition and see what markers they share
  • SNP arrays
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14
Q

is a P value < 0.05 enough for a genome wide association study

A
  • no
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15
Q

do genome wide association studies identify causative variants
- what do they show

A
  • no

- they show association

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16
Q

what refers to heritable cellular and physiological traits that are not due to genetic sequence variations

A
  • epigenetics
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17
Q

the binding of epigenetic factors to histone tails alters what

A
  • the extent to which DNA is wrapped around histones

- availability of genes in DNA to be activated

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18
Q

DNA methylation is a covalent modification of _____ residues at CpG dinucleotides

A
  • cytosine
19
Q

importance of DNA methylation

A
  • chromosome stability
  • X-chromosome inactivation
  • transcriptional silencing
20
Q

fragile X is a _______ disorder

A
  • triplet repeat
21
Q

acetylated histones means genes are switched on/off?

A
  • on
22
Q

methylation cytosines means that genes are switched on/off?

A
  • off
23
Q

MECP2 is essential for ____ cell function

A
  • nerve
24
Q

role of MECP2

A
  • binds methylated DNA

- regulates expression of multiple genes

25
Q

imprinted genes may be primarily expressed from the allele inherited from ____ of the parents

A
  • one
26
Q

what is an epigenetic phenomenon through which the expression of certain genes is regulated in a manner specific to the parent of origin

A
  • genomic imprinting
27
Q

is the offspring’s sex relevant in genomic imprinting?

A
  • no
28
Q

the epigenetic mark is established in _____ and persists in ______ cells

A
  • established in gametogenesis

- persists in somatic cells

29
Q

imprinting is reset in ______ (what stage)

A
  • gametogenesis
30
Q

what is the parental conflict hypothesis

A
  • paternally-expressed genes promote offspring growth, at expense of maternal resources
  • maternally-expressed genes may seek to balance resources by limiting offspring growth
31
Q

epimutations alter the normal ______ of an imprinted gene

A
  • expression patterns
32
Q

deletion/mutation _____ the allele that should be active

A
  • disrupt
33
Q

uniparental disomy may result in _____ chromosomal region with _____ epigenetic signal

A
  • two chromosomal regions

- same epigenetic signals

34
Q

what is the name for inheritance of both copies of a chromosome from the same parent without contribution from the other parent

A
  • uniparental disomy
35
Q

mechanisms of uniparental disomy

A
  • trisomy rescue
  • monosomy rescue
  • gametic complementation
  • meiotic errors
  • somatic recombination
36
Q

what is the name for inheriting two different chromosomes from the same parent

A
  • heterodisomy
37
Q

what is the name for inheriting two copies of the same chromosome from the same parent

what can this result in

A
  • isodisomy

- manifestation of recessive conditions

38
Q

what condition is associated with hypotonia, and poor feeding at birth-2 years and then being overweight with hyperphagia after age 2

A
  • Prader-Willi syndrome
39
Q

which condition is present with microcephaly, seizures, speech impairment, and a behavioral phenotypes consistent with frequent/inappropriate paroxysms of laughter

A
  • Angelman syndrome
40
Q

Prader-Willi syndrome and Angelman syndrome involved ____ genes on which gene

most common cause

A
  • reciprocally-imprinted
  • on gene 15
  • de novo deletions
41
Q

what allele is paternally imprinted (silenced) in the brain

what is it silenced by

A
  • UBE3A

- antisense non-coding RNA

42
Q

Familial Angelman Syndrome results when a pathogenic _______ variant is inherited on the ________ allele

A
  • UBE3A

- maternal

43
Q

why does it not matter if the paternal UBE3A has a mutation

A
  • it is silenced in the brain anyway
44
Q

what condition do you see Macrosomnia (large baby), macroglossia, embryonal tumor?

A
  • Beckwith-Wiedeman Syndrome

HBHD (23 decks)

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