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MAP > Heredity > Flashcards

Heredity Flashcards

1
Q

Two autosomal dominant disorders

A

Huntington’s Disease

Achondroplastia

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2
Q

Three autosomal recessive disorders

A

CF
Albinism
Tay-Sachs

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3
Q

One more time: what phase can we karyotype in?

A

METAPHASE.

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4
Q

What specific kinds of Down’s congenital heart problems occur?

A

Tetralogy of Fallot

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5
Q

Klinefelter’s Syndrome : what’s the karyotype?

A

44 + XXY

More Xs = more problems (intellectual varying degrees)

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6
Q

Turner’s Syndrome: what’s the karyotype?

A

44 + X + nil (only 45 chromosomes in total)

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7
Q

Turner syndrome - symptoms?

A

Short, webbed neck, sterile (no ovaries), limited intellectual disability.
Risk of cancer with Y mosaicism .
Aorta coarctation

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8
Q

Disease with an abnormality of chromosome structure.

(Also what’s the abnormality?

A

Cri du chat

slightly shortened chromosome 5

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9
Q

Translocation named after an american state. What chromosomes, what result?

A

Philadelphia translocation; 9 and 22; leukaemia.

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10
Q

Other translocation, results in BURKITT’S LYMPHOMA. What chromosomes, what gene becomes dyregulated and constitutively expressed?

A

8/14; myc gene.

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11
Q

Reinsertion. Associated with what place, with what disease?

A

Hiroshima survivors; leukaemia

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12
Q

What disease is listed as two point mutation diseases?

A

Sickle Cell Anaemia

They also point out oncogenes.

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13
Q

Four types of mutation risks in the lecture.

A
  1. ionising radiation
  2. non-ionising (UV)
  3. drugs/Chemicals (chemotherapy, asbestos)
    esp alkylating drugs
  4. viruses (inserted genes e.g retroviruses)
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14
Q

What drugs are especially mutagenic?

A

Alkylating drugs e.g. methotrexate for arthritis.

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15
Q

Two diseases for GENE IMPRINTING and which parent do they come from? What chromosome is DELETED?

A

Prader-Willi Syndrome - FATHER’s is deleted (easy, willy = dick)
Angelman Syndrome - MOTHER’s is deleted.

Chromosome FIFTEEN.

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16
Q

Why do maternal/paternal Ch. 15 deletions have different effects?

A

Because maternal and paternal Ch. 15 has different patterns of methylation, leading to differential expression between the two inherited chromosomes.

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17
Q

What do inactivated Xs look like in metaphase?

A

Barr-bodies.

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18
Q

How many genes do mitochondria have?

A

37.

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19
Q

How many mitochondrial genes are for polypeptides?

Also how many for rRNA?

A

13 for polypeptides

2 for rRNA.

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20
Q

Why can mutations in genes in nuclear DNA have an effect on functions within the mitochondria if the mitochondria have their own DNA?

A

Because the mitochondrial DNA only covers some of the polypeptide required for oxidative phosphorylation.
Mitochondria have 13, DNA has the other 74.

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21
Q

What is the likelihood of a male passing on his mitochondrial DNA?

A

0%. Mitochondrial DNA is only passed down from the mother. The line stops at the son.

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22
Q

Who are the only ones of my cousins that can pass on Gran’s mitochondrial DNA?

A

Eliza, Laura, Ingrid, Jenny, Savanna, Genevieve.

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23
Q

Do I have any cousins once-removed that have Gran’s mitochondrial DNA?

A

No. Only Laura has a kid but he’s a male.

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24
Q

What kinds of diseases are mitochondrial mutations associated with?

A

Muscular and neurological. ‘Unusual’ apparently.

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25
Q

Why do mitochondria have higher mutation rates than nuclear DNA?

A

NO repair mechanisms.

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26
Q

List 7 really familiar genetic diseases

A 
Down's 
Huntington's 
Some MDs
Albinism
CF
PKU
Marfan
PTEN Hamartoma syndromes
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27
Q

List 4 less familiar (to you) genetic diseases

A

Fragile X
Neurofibromatosis
Osteogenesis imperfecta
Tay-Sachs

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28
Q

With SSA and CF it’s fairly easy to assess risk of heredity. With others, inheriters will be “at risk” based on…

A

Family history and severity
Population prevalence
Gender (e.g. HH)

29
Q

4 diseases tested for in the newborn screening guthrie heel test

A

Congenital hyperthyroidism
PKU
Galactosaemia
Cystic Fibrosis

30
Q

Two major methods are used for CARRIER SCREENING. They fall into:

A

Pedigree

Blood Tests - DNA probes for unexpressed recessive genes.

31
Q

Would you do a carrier screen for Huntington’s Disease?

A

No. You know. It’s autosomal dominant.

32
Q

What diseases do we have blood tests for to do carrier screening with?

A

SSA, CF, Tay-Sachs

33
Q

What genetic disease is treated with hormones?

A

Klinefelter’s.

34
Q

What genetic diseases are treated by dietary restriction?

A

Phenylketonuria
HH (iron)
Wilson disease

35
Q

What’s the most common CF mutation?

A

ΔF508

36
Q

If two CF carriers have a kid, what’s the ratio of CF:carriers:non-carriers?

A

1:2:1

37
Q

What’s the incidence of CF?

A

1/2500

38
Q

How many CF patients in Australia?

A

3000

39
Q

What’s a meconium?

A

First crap a baby does.

40
Q

What’s the FIRST clinical sign of CF?

A

Viscous meconium obstructs the ilium.

41
Q

What biomarker is used in the prick test for CF?

A

Immunoreactive trypsin- IRT (recall pancreatic blocking, build up and flooding of trypsinogen).

42
Q

Why can’t we just do a universal DNA test for CF?

A

Because ΔF508, though the most common, it’s only responsible for 2/3 of CF.

43
Q

When do we test for ΔF508?

A

After positive IRT screen from heel prick.

44
Q

What’s the confirmatory diagnosis in this lecture for CF?

When is it done in 75% of cases?

A

Sweat test.
1yo.

Bonus: 10% CF not diagnosed until 10yoa.

45
Q

What symptoms for CF are highlighted in this lecture?

A

Salty skin,
Fatigue
Coughing, wheezing, difficulty breathing
Cyanosis

46
Q

For interest, they’ve listed for CF bulky, foul stools, cramps and weakness in hot weather due to sweating and…

A

retarded growth + delayed puberty.

47
Q

Where are the 4 loci encoding the gene for alpha Hb?

A

Chromosome 16

48
Q

ALPHA Thalassaemia: excess ___ chains in adult (and excess _____ chains in newborns)

A

ADULTS: beta
NEWBORNS: gamma

49
Q

What’s the aetiology of ALPHA thalassaemia?

A

Deletion on Chrom. 16 - too few alpha chains.

Excess-beta Hb molecule has abnormal dissociation curves.

50
Q

What regions is beta thal most prominant?

A

mediterranean and south asia

highest carrier frequency = maldives

51
Q

one idea of why beta thal might be so popular in south asia?

A

possibly protective against malaria

52
Q

RBC count is so high in beta thal that…

A

… a smear test is virtulally diagnostic.

53
Q

Symptoms of general thal?

Make sense - RBC processing, yellow colour, HH, cause of HH and a liver thing.

A

Splenomegaly, jaundice, hyperactive bone marrow, haemochromatosis (esp heart iron deposits),
hepatic sclerosis.

54
Q

Symptoms of beta thal specificlaly?

A

Sever anaemia (Cooley’s)
High serum bilirubin (and Fe)
Enlarged marrow space.

55
Q

How many people in the world are supposed to have thalassaema?

A

60-80 million

56
Q

What measure is sometimes necessary in beta thal to calm down haemopoesis (and therefore haemochromatosis) ?

A

RBC hypertransfusions, esp. younger fractions.

Otherwise, as few transfusions as possible.

57
Q

If hypertransfusion doesn’t work, the patient may resort _______ if ________ also doesn’t work.

A

Hypertransfusion
Then iron chelation
Then splenectomy.

58
Q

Haemophilia A B and C affect factors …….. respectively.

A

VII, IX, XI

Easy - sequence of odd numbers.

59
Q

What’s basically an autosomal dominant haemophilia?

A

von Willebrand.

60
Q

When is haemophilia severe? I.e. spontaneous bleeding?

A

1% normal clotting factors or less.

61
Q

What’s a particularly shitty (not just obviously bleeding) symptom that 90% of haemophiliacs have by around age 3-4?

A

Easy bruising = mega joint pain just from ambulation

Termed HAEMARTHROSIS

62
Q

Why did they have to stop using plasma to treat haemophilia? Including cryoprecipitated VIII-rich plasma?

A

Problems with HIV and Hep C transmission.

63
Q

Multiminicore has considerable overlap with _______ and _______ in terms of clinical and histological.

A

MD and spinal rigitity.

64
Q

What causes multiminicore? _________ apparent in the ________ represent areas of _____________ and _________.

A

Lightly-staining minicores; oxidative stain (histology)

low oxidative activity and mitochondrial paucity.

65
Q

What’s the THM on MmD incidence?

A

Very rare. About 1/10

Congenital myopathies represent abotu 0.6/1000 births. In the UK and Sweden MMC disease is about 3.5-5.0 in 100,000.

66
Q

Gotta know this for some reason.

MmD is due to an autosomal ________ mutation of the _______ gene located at the locus:

A

Recessive
Selenoprotein N
1p36

67
Q

To have MmD you can either be a SEPN1 homozygote or a compound heterozygote for _____.

Ryan Reynolds is inbred. I don’t like him.

A

RYR1.

This one tends to be more common in cosanguineous families.

68
Q

SEPN1 tends to be pretty common for non-cosansuineous families, unlike _____

A

RYR1.

69
Q

Around how many pathological mtDNA mutations have been found?

A

250.

MAP (15 decks)

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