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Cells to society > tells for cells to society > Flashcards

tells for cells to society Flashcards

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Sociology 101 flashcards
1
Q

rett syndrome

A

progressive neurodevelopmental affects females
-monogenic x linked dominant pattern of inheritance disease

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2
Q

what skills do people with rett syndrome lack

A

-hand movements
-ability to communicate
-uncontrollable hand movements hand clapping or rubbing

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3
Q

frequency

A

affects 1 in 9,000 to 10,000 females

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4
Q

what gene causes it

A

MECP2.Defects in this , recognises and reads methylation marks

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5
Q

what does the gene MECP2 encode for?

A

methyl cpg binding protein

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6
Q

MECP2(x-linked gene)what different function does it have?

A

gene regulation and chromatin organisation

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7
Q

how to diagnose rett syndrome

A

-genetic test
-physical examination:brain. imaging, blood test and lumbar puncture

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8
Q

uniparental disomy

A

2 copies of chromosome come from same parent

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9
Q

disease example of uniparental disomy

A

angle man syndrome(AS) and Prada-willi syndrome(PWS)

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10
Q

genomic imprinting

A

epigenetic process results in silencing of one the two alleles based on the parent of origin

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11
Q

angle man syndrome

A

complex genetic disorder affects nervous system

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12
Q

features of angle man syndrome

A

-delayed developmental
-intellectual disability
-severe speech impairment
-ataxia(problems with movement)

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13
Q

what gene causes angle man syndrome

A

loss of gene UBE3A due to deletion, located on chromosome 15 .copy from mother inherited is active but from father is not -caused to due imprinting

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14
Q

diagnosis of angle man syndrome

A

-dna methylation test
-chromosomal microarray
-UBE3A gene sequencing test
-physical,behaviour and communication therapy

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15
Q

single nucleotide polymorphisms

A

1.transition:
interchange of purine(adenine and guanine
-pyrmidine-cytosine and thym ine

2.transversion: interchange of purine and pyrimidine nucleic acid

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16
Q

ataxia-telangiectasia syndrome

A

autosomal recessive pattern -both of the ATM gene(chromosome 11q) in each cell have mutations

17
Q

ataxia-telangiectasia frequency

A

occurs in 40,000 to 100,000 people worldwide

18
Q

atm gene function in ataxia-telangiectasia

A

provides instructions for making a protein help control cell division and involved in dna repair

19
Q

Prada willi syndrome, causes of challenging behaviour. Internal factors

A

-pain and discomfort
-sensory stimulation and sensory reinforcement

20
Q

Prada willi syndrome, causes of challenging behaviour, external factors

A

-communication
-postive and negative reinforcement
-access to objects

21
Q

assessments to help understand Prada willi syndrome better

A

-ABC charts
-Unstructured natural observations
-specialist assessments

22
Q

main behaviours displayed by people with Prada willi syndrome

A

-skin picking
-temper outburst

23
Q

heterodoxy syndrome

A

situs solitus: organ arrangement patterns differ from normal arrangement

24
Q

what can heterodoxy syndrome cause

A

heart problems due to malformations and vessels-lead to arrhythmias due to absence or duplication of the hearts natural pacemaker

25
Q

how can left isomerism affect the heartbeat

A

no sinus node flowing slower through body

26
Q

how can right isomerism affect the heart beat

A

has two sa nodes which makes the heartbeat faster

27
Q

what is the other natural pacemaker in the heart

A

atrioventricular node-relays electrical impulse generated by sinus node to ventricles

28
Q

Prada willi syndrome features

A

floppy
-crossed eyes
eating disorders

29
Q

Prada willi prevalance

A

10,000-25,000 live births

30
Q

Prada willi syndrome in infancy

A

hypotonia, feeding difficulties, poor growth and delayed development

31
Q

genetic test used in Prada willi syndrome

A

FISH and bisulfite sequencing

32
Q

SMA what gene affects it

A

due to deletion of SMN1 gene of chromosome 5q -important for motor neuron function

33
Q

what type of disease is SMA

A

autosomal recessive inheritance patten -both parents are carriers

34
Q

SMA symptoms

A
35
Q

SMA frequency

A

1 in 4

Cells to society (16 decks)

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