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4th year finals > Genetics > Flashcards

Genetics Flashcards

1
Q

Adult Polycystic Kidney Disease mode of inheritance?

A

Autosomal Dominant

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2
Q

Adult Polycystic Kidney Disease happens on which gene and which chromosome

A

PKD1

Chromosome 16

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3
Q

Prader Willi happens through which gene?

A

Paternal 15Q

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4
Q

Angelman Syndrome happens through which gene

A

Maternal 15q

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5
Q

What is Mendelian Inheritance?

A

Single gene disease on non sex chormosomes

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6
Q

How many copies of an affected gene do you need to have to have an Autosomal Dominant condition?

A

Single copy of diseased gene

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7
Q

How many copies of an affected gene do you need to have to have an autosomal recessive condition?

A

Two copies of disease gene

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8
Q

How many copies of an affected gene do you need to be a carrier of an autosomal recessive condition?

A

One copy of diseased gene

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9
Q

In autosomal recessive condition where both parents have 1 copy of diseased gene what is the chance of a child being affected by the disease?

A

1 in 4 (25%)

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10
Q

In autosomal recessive condition where both parents have 1 copy of diseased gene what is the chance of a child being a carrier of disease?

A

2 in 4 (1 Abnormal, 1 Normal)

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11
Q

In autosomal recessive condition where both parents have 1 copy of diseased gene what is the chance of a child being not affected by disease?

A

1 in 4 (25%)

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12
Q

In autosomal dominant condition what is the chance of a child having the disease where 1 parent has disease and 1 parent does not?

A

2 in 4 (50%)

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13
Q

In autosomal dominant condition what is the chance of a child not having the disease where 1 parent has disease and 1 parent does not?

A

2 in 4 (50%

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14
Q

Autosomal Recessive

  • Both parents unaffected
  • 1 Sibling has condition
  • 1 sibling does not have condition

Chance of sibling that does not have condition being carrier?

A

2 in 3

Because both parents will be carriers and the child does not have the condition which leaves three options that could be possible

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15
Q

Name the cause of Angelman Syndrome (2)

A

Loss of function of UBE3A Gene
Deletion on Chromosome 15

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16
Q

Name common feautres of Angelman Syndrome? (7)

A

Delayed Development and LD
Speech Issues
Fascination with water
Happy demeanor
Wide spaced teeth
Inappropriate laughter
Hand flapping

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17
Q

Cause of Angelman Syndrome (2)

A

Loss of function of UBE3A Gene
and Deletion on Chromosome 15

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18
Q

Name 8 autosomal dominant conditions

A
  • Achondroplasia
    • Adult Polycystic Kidney Disease
    • Familal Alzheimers Disease
    • Familial Hypercholesterolaemia
    • Huntingtons Chorea
    • Marfan Syndrome
    • Neurofibromatosis Type I
  • Von Willebrand Disease
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19
Q

Name 8 autosomal dominant conditions

A
  • Achondroplasia
    • Adult Polycystic Kidney Disease
    • Familal Alzheimers Disease
    • Familial Hypercholesterolaemia
    • Huntingtons Chorea
    • Marfan Syndrome
    • Neurofibromatosis Type I
  • Von Willebrand Disease
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20
Q

Name 5 common autosomal recessive haematology conditions?

A

Haemochromatosis
Phenylketonuria
Sickle Cell
Haemophilia A
Haemophilia B

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21
Q

Name a common paediatric msk autosomal recessive condition?

A

Duchenne Muscular Dystrophy

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22
Q

Name a common autosomal recessive respiratory condition?

A

Cystic Fibrosis

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23
Q

name a common autosomal recessive gi condition?

A

Wilsons Disease

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24
Q

What does Homozygous mean?

A

Both gene copies abnormal

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25
Q

What does Heterozygous mean?

A

One gene copy abnormal

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26
Q

How many pairs of chromosomes does an individual have?

A

23 (46 in total)

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27
Q

How many sex chromosomes does have a female have?

A

Two X

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28
Q

How many sex chromosomes does a male have?

A

One X and One Y

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29
Q

What is the chromosome abnormality in Myeloid Leukaemia?

A

Translocation of philadelphia chromosome (9:22)

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30
Q

What is the chromosome abnormality in Acute Promyelotic Leukaemia?

A

15:17

31
Q

Which gene causes Familial Adenomatous Polyposis?

A

APC Gene

32
Q

which gene causes Hereditary Retinoblastoma?

A

RB gene

33
Q

Cri Du Chat is what type of genetic condition?

A

Deletion disorder missing chromosome 5

34
Q

Charcot Marie Tooth is what type of genetic condition?

A

Duplication disorder on chromosome 17

35
Q

How does Charcot marie tooth present? (3)

A

Sensory Neuropathy
Motor Neuropathy
Pes Cavus (High Arch Foot)

36
Q

Patau is what trisome condition?

A

Trisomy 13

37
Q

Edwards is what Trisome condition?

A

Trisomy 18

38
Q

Downs is what trisome condition?

A

Trisomy 21

39
Q

How does Downs Syndrome typically present? (8)

A

Hypotonia
Brachycephaly
Short Neck
Short Height
Flat Face/Nose
Prominent Epicanthic Folds (Eyes)
Upward Sloping Palpebral Fissures
Single Palmar Crease

40
Q

What is Brachycephaly?

A

Small Head/Flat Back

41
Q

Where can prominent epicanthic folds be found?

A

Eyes

42
Q

Name complications of Downs Syndrome? (7)

A

Learning Difficult
Recurrent Otitis Media due to Eustachian tuBE ISSUES
Visual Issues
Hypothyrodism
ASD/VSD Cardiac
Leukaemia
Dementia

43
Q

First line diagnostic test for Downs? at what week?

A

Combined Test (Ultrasound and Maternal Bloods: Beta HCG and PAPPA) at 11-14 Weeks

44
Q

What will Beta HCG and PAPPA tested at 11-14 weeks in downs show?

A

Increased Beta HCG
Decreased PAPPA

45
Q

What test to measure neck in Downs?

A

Nuchal Transluency ?6mm

46
Q

What does the Triple Test in Downs at 14-20 weeks look at?

A

High Beta HCG
Low Alpha Fetoprotein
Low Serum Oestriol

47
Q

Quadruple Test at 14-20 weeks in Downs what does that look at?

A

Inhibin A

48
Q

What is Fragile X Syndrome?

A

Mutation in Fragile X Mental Retardation 1 Gene (FRM1) on X Chromosome

49
Q

Symptoms of Fragile X Syndrome? (8)

A

Intellectual Disability
Long Narrow Face
Large Ears
Large Testicles after puberty
Hypermobile Joints
ADHD
Seizures
Autism

50
Q

Testing for BRCA1 and Huntingtons is what type of genetic test?

A

Predictive

51
Q

Huntingtons Disease has what type of mutation?

A

CAG Expression

52
Q

Kleinfelter’s Syndrome affects what gender?

A

Male

53
Q

Kleinfelter’s Syndrome is what kind of condition?

A

Additional X Chromosome in Males (47 xxy)

54
Q

Features of Kleinfelter’s Syndrome (8)

A

Tall
Wide Hips
Gynaecomastia
Weak Muscles
Small Testicles
Reduced Libido
Infertiluty
Subtle LD

55
Q

Treatment for Kleinfelter’s Syndrome? (2)

A

Testosterone Injections
Breast Reduction Surgery

56
Q

How is Marfans Inherited?

A

Autosomal Dominant

57
Q

What is Marfans

A

affects gene responsible for creating fibrillin which affects connective tissue

58
Q

Features of Marfans? (8)

A

Tall
Long Neck
Long Arms/Legs
Long Fingers
High Arch Palate
Hypermobility
Chest wall deformity
Downward slope palpabrle fissures

59
Q

Associations with Marfans? (7)

A

Lens Dislocation
Joint Dislocation
Scoliosis
Pneumothorax
GOR
Mitral Valve/Aortic Valve Prolapse with Regurg
Aortic Aneurysm

60
Q

Duchenne Muscular Dystrophy is what type of condition?

A

X Linked

61
Q

Neurofibromatosis Type 1 is what type of condition?

A

Autosomal Dominant on 17Q Gene

62
Q

Features of Neurofibromatosis Type 2? (3)

A

Bilateral Acoustic Neuromas
CNS and Spinal Tumours
Cafe Au Lait Spots

63
Q

Myotonic Dystrophy is inherited how? (2)

A

Autosomal Dominant
CTG Repeat

64
Q

Noonans is inherited how?

A

Autosomal Dominant

65
Q

Features of Noonans (9)

A

Short
Broad Forehead
Slope Eyes with Ptosis
Hyperterolism (wide space between eyes)
Prom Nasolabial Folds
Low Set Ears
Wide Nipples
Webbed Neck
Pul Valve Stenosis

66
Q

What is Prader Willi Syndrome

A

Loss of functional genes on proximal arm of chromosome 15 inherited from father

67
Q

Features of Prader Willi Syndrome? (9)

A
  • Constant insatiable hunger > Obesity
    • Hypotonia
    • Mild-Moderate LD
    • Hypogonadism
    • Dysmorphic Features
    • Narrow Forehead
    • Almond shaped eyes
    • Strabismus
      Thin upper lip
68
Q

Lynch Syndrome increases risk of what two types of cancer in particular?

A

Endometrial and Colon

69
Q

Name four common trinucleotide repeat disorders?

A

Fragile X (CGG)
Huntingtons (CAG)
Myotonic Dystrophy (CTG)
Frederich Ataxia (GAA)

70
Q

Tuberous Sclerosis presents with what triad?

A

Epilepsy, Learning Difficulty, Skin Lesions (Harmatomas)

71
Q

How is Tuberous Sclerosis inherited?

A

Autosomal Dominant

72
Q

How is Turners Inherited?

A

Single X Chromosome 45

73
Q

Features of Turners? (8)

A

Short
Webbed Neck
High Arch Palate
Downward Slope Eyes with Ptosis
Broad Chest/Wide Spaced Nipples
Cubitus Valgus (Abnormal Elbow Angle)
Underdeveloped Ovaries
Late/Incomplete Puberty

4th year finals (37 decks)

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