Craniofacial anomalies and genetics Flashcards Preview

M4:Craniofacial Biology and tooth development > Craniofacial anomalies and genetics > Flashcards

Flashcards in Craniofacial anomalies and genetics Deck (20)
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1
Q

Pleiotrophy

A

One gene affecting different characteristics

2
Q

Genotype: Qualitative trait example

A

ABO blood antigen

3
Q

Genotype: Quantitative trait example

A

Height, weight etc

4
Q

Homeobox genes role

A
  1. Craniofacial shape and patterning
  2. Patterning of the dentition
5
Q

What are MSX1 and MSX2 responsible for?

A

The initiation development position (pattering) and morphodifferention of tooth buds

6
Q

Number of paired chromosomes

A

22

7
Q

Environmental diseases

A

infection, trauma, poisoning etc

8
Q

Genetic diseases

A
  1. Chromosomal
  2. Single gene
  3. Multifactorial
9
Q

Single gene diseases types

A
10
Q

Prevalence of genetic disease

A

0.5% of population

11
Q

Mutation in FGFR3

A

Achondroplasia or dwarfism, down to a single mistake in the coding, affects cartilage

12
Q

Autosomal dominant disorder example

A
  1. FGFR3 mutation (dwarfism)
  2. Craniosynostosis (crouton syndrome)
  3. Cleidocranial dysostosis
  4. Van der Woude syndrome
  5. Dentinogenesis imperfecta
13
Q

Cleidocranial dysostosis

A
14
Q

Van der Woude syndrome

A

Cleft lip and palate as well as lower lip pits

15
Q

Dentinogenesis imperfecta

A

A disorder of tooth development. This condition causes the teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss.

16
Q

Penetrance

A

probability that presence of disease genotype will cause disease

17
Q

Expressivity

A

variation in the severity of expression of a particular gene (e.g seen in Treacher Collin syndrome)

18
Q

Autosomal recessive examples

A

Treacher Collins syndrome

19
Q

X-linked disease

A
20
Q

Ectodermal dysplasia

A

X- linked recessive, severity is much milder for women as only express 50% of X genes.