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Flashcards in Genetics Deck (23)
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1
Q

What does precision medicine allow?

A

Identify a group of patients who will benefit from treatment and exclude those who wont or get side effects

2
Q

What is precision medicine most effective in?

A

Rare diseases and high penetrance mutations

3
Q

What does tuberous sclerosis present as?

A

Infantile seizures

Ash leaf macule

4
Q

What inheritance pattern is tuberous sclerosis?

A

Autosomal dominant

New mutations can occur

5
Q

What tumours are common in tuberous sclerosis?

A

Periungual fibromas
Facial angiofibromas
Cortical tumours
Hamartomas

6
Q

What skin signs are present in tuberous sclerosis?

A

Shagreen patches

Enamel pitting

7
Q

What is a hamartomas?

A

Over growth of normal tissue: heart, lung, kidney

8
Q

What genes and chromosomes are involved in tuberous sclerosis?

A

Chromosomes 9q34 and 16p13.3

Genes TSC1 and TSC2

Code for tuberin and hamartin

9
Q

What is the biggest factor for inheriting new mutations?

A

How old the father ill spermatozoa have more mutations with age

10
Q

What is epidermolysis bullosa and its inheritance pattern?

A

Genetic skin fragility conditions

Dominant, recessive, new mutation or acquired

11
Q

What are the three main types of epidermolysis bullosa?

A

Simplex
Junctional
Dystrophic

12
Q

Describe simplex epidermolysis bullosa

A

Split within the epidermis, keratinocytes start to fall apart, surface of a blister is upper epidermis.

Normal lifespan, blister easily

13
Q

Describe junctional epidermolysis bullosa

A

Skin is fragile, everyday knocks cause blisters or raw areas

Lifespan is variable

Fault in proteins anchoring epidermis and dermis

14
Q

Describe dystrophic epidermolysis bullosa

A

Split is in dermis
Complicated by scarring

Not enough type 7 collagen, epidermis not held to dermis

Can happen in mouth digestive tract and eyes

15
Q

Define haploinsufficiency

A

Only one copy working, reduction in protein production

16
Q

Define dominant negative

A

Expression of abnormal protein interferes with normal protein

17
Q

Define gain of function

A

Mutant proteins gain a new function, affecting cell processes

18
Q

Define complete loss of protein

A

Autosomal recessive- 2 faulty copies -> no protein

19
Q

What are the features of Neurofibromatosis type 1?

A
  • Cafe au lait
  • Neurofibromas
  • Plexiform neuroma
  • Axillary or inguinal freckling
  • Optic glioma
  • 2 of more lisch nodules
  • A distinctive bony lesion
20
Q

What targeted therapy is used in NF1?

A

MEK inhibtors

21
Q

What genetic factors are behind skin barrier function in eczema?

A

Filaggrin

22
Q

What genetic factors are behind immunology of eczema?

A

IL-4, IL-13

23
Q

What do filaggrin mutations cause?

A

Ichythyosis vulgaris