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Multifactorial disease Flashcards

1
Q

What does polygenic mean?

A

the result of the action of multiple genes

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2
Q

What is familial clustering (Lamda S)

A

the relative risk to a person in a family where another sibling has the condition by comparison to the risk of the population

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3
Q

What are SNPs?

A

Single nucleotide polymorphisms - change in the letter code at one point

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4
Q

Alzheimer disease

A

most common form of dementia
familial clustering is lamda s 3 to 10
much of the effect is due to a gene implicated in heart disease: app-lipoprotein E (APOE)

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5
Q

Which disease is associated with apo-lipoprotein E?

A

Alzheimer’s disease

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6
Q

Which Apo-lipoprotein E haplotype increases susceptibility of alzheimers?

A

ApoE 4 increases susceptibility

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7
Q

Which ApoE haplotype has a protective effect of alzheimers?

A

ApoE2

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8
Q

Age-related macular degeneration

A

characterised by the early deposition of drusen, a risk factor for AMD
leading to cause of irreversible central vision dysfunction caused by degeneration of the macula

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9
Q

What disease is characterised by the early deposition of drusen?

A

Age-related macular degeneration

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10
Q

what are the genetic causes of age-related macular degeneration?

A

CFH, ARMS2

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11
Q

Environment effects of Age related macular degeneration

A

smoking

light exposure

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12
Q

what does penetrance mean?

A

proportion of individuals with a specific genotype who manifest that phenotype

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13
Q

What are gatekeepers?

A

gatekeepers directly regulate tumour growth, they monitor and control cell division and death, preventing accumulation of mutations

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14
Q

what are caretakers?

A

They improve genomic stability and repair mutations

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15
Q

what is the function of tumour suppressor genes?

A

To protect cells from becoming cancerous

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16
Q

What can loss of function of tumour suppressor genes lead to?

A

cancer

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17
Q

What are oncogenes?

A

Regulate growth and differentiation

gain of function may result in activating mutations and increase the risk of cancer

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18
Q

what type of genes obey the two hit hypothesis?

A

cancer genes

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19
Q

Retinoblastoma

A

childhood ocular cancer
both genes are mutated
inherited cases at younger age
bilateral cases almost always germline

20
Q

Familial adenomatous polyposis

A

hundreds of bowel polyps from teens onwards
high risk of bowel cancer if untreated
APC tumour suppressor gene affected

21
Q

Hereditary non-polyposis colorectal cancer (NHPCC)

A

polyps are common but not polyposis
risk of bowel adenoma or cancer
mismatch repair genes

22
Q

which phase in the cell cycle are the chromosomes most visible?

A

Metaphase

23
Q

Which type of genetic testing are metaphase chromosomes used?

A

G banding

24
Q

what is diploidy?

A

2 copies of each chromosome

25
Q

What is aneuploidy?

A

gain or loss of chromosome, trisomy or monosomy

26
Q

where do chromosome numerical abnormalities originate?

A

gametogenesis - meiosis
increased risk of aneuploidy with increased maternal age
fertilisation - polyploidy
early cleavage - post zygotic non-disjunction

27
Q

What are the main features of downs syndrome?

A 
upward slanting and brush field spots in eyes
small nose
microcephaly
single palmer crease
sandal gap
protruding tongue
short neck
males = infertile
increased risk of cancer, alzheimers, obesity
28
Q

what chromosome is affected in downs syndrome?

A

trisomy 21

29
Q

What syndrome is trisomy 18

A

Edwards syndrome

30
Q

what are the main features of Edwards syndrome?

A 
microcephaly 
low set ears
rocker bottom feet
clenched hands
cleft lip and palate
severe mental retardation
short sternum
may umbilical/inguinal hernia, congenital heart disease
31
Q

What syndrome is trisomy 13?

A

Patau syndrome

32
Q

What are the main features of patau syndrome?

A 
sloping forehead
low set ears, abnormal
cleft lip
abnormal genital
brain defects - holprosencephaly
polydactyly and fingers flexed
mental retardation
33
Q

Turners syndrome 45 X

A 
loss of ovarian function, no puberty
webbed neck
swelling of hands and feet
short stature
coarctation of aorta
34
Q

Klinefelters syndroms 47XXY

A 
infertility
hypogonadism
testicular dysgenesis
gynacomastia
accelerated growth 
long limbs
35
Q

What is a molar pregnancy?

A

double paternal chromosomes

no maternal

36
Q

If have double maternal chromosome what are the consequences?

A

small placenta

small foetus with macrocephaly

37
Q

If have double paternal chromosome what are the consequences?

A

foetus is normal with facial abnormalities, huge overdeveloped cystic placenta, genome for placenta

38
Q

Which direction are DNA sequences written in?

A

5 prime to 3 prime direction

39
Q

What is the definition of a gene?

A

functional unit of DNA
components:
exons, introns, regulatory sequences

40
Q

What is a pseudogene?

A

used to be a gene then mutated and became non-functional

41
Q

what is a processed gene?

A

a copy of a gene which is normal looking but without introns

42
Q

what is satellite DNA?

A

large blocks of repetitive DNA sequence

large blocks are centromeres and heterochromatic chromosomal regions

43
Q

what is alphoid DNA

A

a type of DNA found at centromeres
171 bp repeat unit
alphoid DNA is required for assembly of the centromere

44
Q

what disease is associated with deficiency of blood coagulation factor 8?

A

Haemophilia A

45
Q

Haemophilia A mutaiton

A

x linked recessive

blood coagulation does not work due to deficiency of blood coagulation factor 8

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