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M1 Genetics > Genetic Disorders > Flashcards

Genetic Disorders Flashcards

1
Q

Give 2 examples of chromosomal disorders.

A

Acquired + Structural:
Chronic Myeloid Leukemia (CML)

Constitutional + Numerical:
Down Syndrome

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2
Q

Give 5 examples of autosomal recessive disorders.

A

1) α-thalassemia
2) ß-thalassemia
3) Spinal muscular atrophy
4) Cystic fibrosis
5) Phenylketonuria (PKU)

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3
Q

Give 10 examples of autosomal dominant disorders.

A

1) Familial hypercholesterolemia
2) Neurofibromatosis type 1 (NF-1)
3) Familial adenomatous polyposis (FAP)
4) Achondroplasia
5) Osteogenesis imperfecta
6) Polycystic kidney disease
7) Tuberous kidney disease
8) Huntington chorea
9) Myotonic dystrophy
10) Multiple Endocrine Neoplasia 1 (MEN1)

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4
Q

Give 4 examples of X-linked recessive disorders.

A

1) Red green colour deficiency
2) G6PD deficiency
3) Duchenne Muscular Dystrophy (DMD)
4) Haemophilia A

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5
Q

Give 2 examples of X-linked dominant disorders.

A

1) Incontinentia pigmenti
2) X-linked hypophosphatemic rickets

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6
Q

Give an example of a Y-linked disorder.

A

Deletion of q arm → infertility

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7
Q

Give 5 examples of Mitochondrial disorders.

A

Nuclear genome:
1) SURF1 → Leigh’s syndrome (AR)
2) ANT1 → facioscapulohumeral muscular dystrophy (FSHD) (AD)
3) TIMM8 → Mohr-Tranebjaerg syndrome (XLR)

Mitochondrial genome:
4) MELAS (Mitochondrial Encephalopathy with Lactic Acidosis and Stroke-like episodes)
5) MERRF (Myoclonic Epilepsy with Ragged Red Fibers)

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8
Q

Give 2 examples of genetic disorders caused by genomic imprinting.

A

1) Prader Willi syndrome
2) Angelman syndrome

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9
Q

Give an example of a disorder that is caused by dynamic mutations?

A

Trinucleotide repeat disorders

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10
Q

Give 4 examples of multifactorial/complex genetic disorders.

A

1) Cancer
2) Type 2 Diabetes mellitus
3) Cardiovascular disease
4) Hypercholesterolemia

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11
Q

What are the 6 genetic tests covered in Singapore’s Expanded Newborn Screening Programme?

A

1) Cystic Fibrosis
2) Congenital Adrenal Hyperplasia
3) Severe Combined Immune Deficiency
4) Galactosemia
5) Biotinidase deficiency
6) Inborn errors of Metabolism (>30 disorders)

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12
Q

What is the inheritance pattern of CML?

A

None, mutation acquired somatically
- Ph chromosome t(9,22)

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13
Q

What is the inheritance pattern of Down Syndrome?

A

None, mutation occurs in gametogenesis

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14
Q

What is the inheritance pattern of α/ß Thalassemia?

A

AR

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15
Q

What is the inheritance pattern of Spinal Muscular Atrophy?

A

AR

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16
Q

What is the inheritance pattern of Cystic Fibrosis?

A

AR

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17
Q

What is the inheritance pattern of Phenylketonuria?

A

AR

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18
Q

What is the inheritance pattern of Familial Hypercholesterolemia?

A

AD

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19
Q

What is the inheritance pattern of Neurofibromatosis Type 1?

20
Q

What is the inheritance pattern of Familial Adenomatous Polyposis?

21
Q

What is the inheritance pattern of Osteogenesis Imperfecta?

22
Q

What is the inheritance pattern of Achondroplasia?

23
Q

What is the inheritance pattern of Polycystic Kidney Disease?

24
Q

What is the inheritance pattern of Tuberous Kidney Disease?

25
Q

What is the inheritance pattern of Huntington Chorea?

26
Q

What is the inheritance pattern of Myotonic Dystrophy?

27
Q

What is the inheritance pattern of Multiple Endocrine Neoplasia Type 1?

28
Q

What is the inheritance pattern of Red Green Colour Deficiency?

29
Q

What is the inheritance pattern of G6PD deficiency?

30
Q

What is the inheritance pattern of Duchenne Muscular Dystrophy?

31
Q

What is the inheritance pattern of Haemophilia A?

32
Q

What is the inheritance pattern of Incontinentia Pigmenti?

33
Q

What is the inheritance pattern of X-linked Hypophosphatemic Rickets?

34
Q

What is the inheritance pattern of Y chromosome p arm deletion leading to infertility?

35
Q

What is the inheritance pattern of MELAS?

A

Mitochondrial

36
Q

What is the inheritance pattern of MERRF?

A

Mitochondrial

37
Q

What is the inheritance pattern of Leigh’s syndrome (SURF 1 gene)?

38
Q

What is the inheritance pattern of FSHD (ANT1 gene)?

39
Q

What is the inheritance pattern of Mohr-Tranebjaerg syndrome (TIMM8 gene)?

40
Q

What is the inheritance pattern of Trinucleotide Repeat Disorders?

A

Dynamic mutation + Genetic anticipation
(no. mutations ↑ in successive generations)

41
Q

What is the inheritance pattern of Prader Willi Syndrome?

A

Genomic imprinting

42
Q

What is the inheritance pattern of Angelman syndrome?

A

Genomic imprinting

43
Q

What is the inheritance pattern of Cancer?

A

Complex/Multifactorial

44
Q

What is the inheritance pattern of Type 2 DM?

A

Complex/Multifactorial

45
Q

What is the inheritance pattern of Cardiovascular disease?

A

Complex/Multifactorial

46
Q

What is the inheritance pattern of Hypercholesterolemia?

A

Complex/Multifactorial

M1 Genetics (3 decks)

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