Genetics 1 + 2 - Science and Clinical Aspects of Genetic Skin Conditions Flashcards Preview

2nd Year - Dermatology > Genetics 1 + 2 - Science and Clinical Aspects of Genetic Skin Conditions > Flashcards

Flashcards in Genetics 1 + 2 - Science and Clinical Aspects of Genetic Skin Conditions Deck (13):
1

Fibroma?

Benign tumours composed of fibrous or connective tissue

2

Angiofibroma?

Fibromas that consist of many, often dilated, vessels

3

Adenoma?

Benign tumour of epithelial tissue with glandular origin

4

Hamartoma?

Overgrowth of normal tissue (totally healthy tissue growing in a disorganised fashion)

5

Angiomyolipoma?

Benign tumour composed of blood vessels, smooth muscle cells and fat cells

6

De novo mutation?

Alteration in a gene that is present for the fist time in one family member as a result of a mutation in a germ cell or the fertilised egg itself

7

Penetrance?

Proportion of individuals with the mutation who exhibit clinical symptoms

8

Expressivity?

How does a disease (or trait) show up

9

Heterogenecity?

A phenomenon in which a single phenotype/ genetic disorder may be caused by any one of a multiple number of gene mutations

10

Haploinsufficiency?

Phenomenon where a diploid organism has only a single functional copy of a gene (other gene mutated) and the single functional copy does not produce enough gene-product to bring about a wild-type condition, leading to an abnormal/ diseased state (caused by reduced protein production)

11

Dominant negative effect?

Expression of abnormal protein interferes with normal protein

12

Neurofibroma?

Benign nerve sheath tumour in the PNS

13

What are the 4 ways in which mutations in genes can affect a protein and therefore cause disease?

Haploinsufficiency
Dominant negative effect
Gain of function
Complete loss of protein