Week 12 - Complex Trait Genetic Disorders

Question 1

Differences between monozygotic twins must be due to what

Answer 1

environment or a spontaneous mutation (rare)

Question 2

What is concordance rate

Answer 2

The percentage of which the phenotypes between twins are the same

If the trait is completely controlled by the genes the concordance will be 1.0 as the twins are genetically identical.

Question 3

higher concordance suggest what in heritability

Answer 3

greater heritability

Question 4

low concordance in cleft lip disorder can be due to what

Answer 4

• A highly penetrant mutation spontaneously occurring in one twin after the egg splits
• Environmental factors influencing development

Question 5

What model is used to explain variation of trait phenotypes within a population

Answer 5

the threshold model

Question 6

What is the x-axis of the threshold model

Answer 6

Risk/Phenotype
the spectrum of phenotypic values for the trait

Question 7

what is the y-axis of the threshold model

Answer 7

Frequency
the proportion or frequency of individuals within the population that exhibits a particular phenotype

Question 8

What is the threshold line

Answer 8

The point where the trait becomes clinically expressed

Question 9

What is both the distribution of the variable and the threshold influenced by

Answer 9

genetic and environmental factors

Question 10

What are 2 examples of multifactorial conditions/ complex trait disorders

Answer 10

• Cardiovascular disease
• Bipolar and Schizophrenia

Question 11

What is cardiovascular disease

Answer 11

Cardiovascular disease is a group of conditions that affect the heart and blood vessels. These conditions can lead to various health problems, including heart attacks, strokes, and other complications.

Question 12

What shows that both genetic and environmental factors impact the development of cardiovascular disease

Answer 12

deaths from cardiovascular disease plateauing after a long trend of decreaseing

Question 13

How are the risk alleles for disorders identified

Answer 13

Scientist have been able to collate genomes of individuals with certain disease as hence find common allele variants which are common amongst healthy and affected individuals. Through this they are able to determine the risk allele which contribute to the development of certain traits.

Question 14

What are environmental risk factors for cardiovascular disease

Answer 14

• Poor diet
• Smoking
• Being overweight
• Alcohol
• Poor dental hygiene
• Poor mental health

Question 15

What is schizophrenia and bipolar

Answer 15

mental disorders which are characterized by disturbances in thought processes, perceptions, emotion and behavior

Question 16

What are environmental factors which affect bipolar and schizophrenia

Answer 16

• Depression
• Living in cities
• Pathogens
• Drugs and alcohol
• Poor Mental health

Question 17

What are examples of complex trait disorders in dentistry

Answer 17

-chronic periodontitis
- childhood dental caries

Question 18

what are the challenges of genetic scientists

Answer 18

Genetic scientist are capable of identifying the risk alleles which result in disease phenotypes.

However, the challenge for researchers over the coming decades is to translate this immense genetic knowledge into effective treatments for patients.