Lecture 10 AI generated

Question 1

Describe the role of genetic variation in making each human unique.

Answer 1

Genetic variation is what makes each human being a unique individual.

Question 2

Define monogenic diseases and provide an example.

Answer 2

Monogenic diseases are caused by mutations in a single gene. An example is sickle-cell anaemia.

Question 3

Explain the difference between monogenic and polygenic diseases.

Answer 3

Monogenic diseases are caused by mutations in a single gene, while polygenic diseases are caused by multiple mutations in different genes or a combination of genes and the environment.

Question 4

How are chromosomal abnormalities related to genetic disorders?

Answer 4

Chromosomal abnormalities are genetic disorders that involve more or less chromosomes or alterations in the shape of chromosomes.

Question 5

Describe the characteristics of polygenic diseases.

Answer 5

Polygenic diseases are complex diseases caused by multiple mutations in different genes or a combination of genes and the environment. They have a complex inheritance pattern.

Question 6

What is the significance of GWAS in genetics research?

Answer 6

GWAS (Genome-Wide Association Studies) have been crucial in finding genes associated with complex traits and diseases since 2001.

Question 7

Describe the significance of GWAS in genetic research.

Answer 7

GWAS (Genome-Wide Association Studies) haveized genetic epidemiology by identifying genetic variants associated with various traits and diseases in human populations.

Question 8

What is a SNP and how does it relate to genetic variation?

Answer 8

A SNP (Single Nucleotide Polymorphism) is a common of genetic variation where a single nucleotide at a specific location in the DNA sequence differs among individuals.

Question 9

Define genotyping and its role in genetic studies.

Answer 9

Genotyping is the process of determining genetic variations in an individual’s DNA by analyzing SNPs or other genetic markers. It is crucial for identifying associations between genetic variants and traits.

Question 10

How are risk alleles determined in the context of SNPs?

Answer 10

In SNPs, the presence of specific alleles can be associated with an increased risk of a disease. Individuals can have 0, 1, or 2 risk alleles depending on their genotype at that SNP locus.

Question 11

Do higher numbers of risk alleles always indicate a higher risk outcome for a disease?

Answer 11

No, having 2 risk alleles does not always mean a higher risk outcome. In some cases, both risk alleles may be needed for the disease to manifest (dominance).

Question 12

Describe the information displayed on a Manhattan plot in genetic studies.

Answer 12

A Manhattan plot visually represents the results of genotyping in GWAS. It shows the associations between genetic variants (SNPs) and diseases on the x-axis (chromosomes) and the strength of these associations on the y-axis.

Question 13

How have family history and twin studies contributed to understanding heritability estimates of traits like blood pressure?

Answer 13

Family history and twin studies have provided insights into the heritability of traits such as blood pressure, estimating that genetic factors account for 34-67% of the variance in blood pressure among individuals.

Question 14

Describe the role of GWAS in genetic epidemiology.

Answer 14

GWAS help in understanding etiology, pathways, disease prediction, identifying high-risk populations, enabling earlier prevention and treatment, personalized medicine, and utilizing genetic information in other study designs.

Question 15

What percentage of variance in blood pressure can all SNPs in a genetic risk score explain?

Answer 15

Less than 3% of the variation in blood pressure can be explained by all SNPs in a genetic risk score.

Question 16

Define the limitation of GWAS in detecting common genes with small effects.

Answer 16

GWAS may not be effective in identifying common genes with small effects.

Question 17

How does the environment and lifestyle influence twin studies in genetic research?

Answer 17

The environment and lifestyle can impact the results of twin studies, potentially affecting the estimation of the role of genes.

Question 18

Explain the significance of collecting large datasets from diverse countries in genetic epidemiology.

Answer 18

Collecting large datasets from diverse countries enhances the power to find more loci associated with complex disorders and allows for the study of heterogeneity.

Question 19

What is the role of epigenetics in genetic research?

Answer 19

Epigenetics plays a role in gene-environment interactions and can influence the development of complex disorders.

Question 20

How can GWAS results be utilized for prevention and treatment strategies?

Answer 20

GWAS results can aid in prevention, treatment, personalized medicine, disease prediction, identifying high-risk populations, and informing personalized preventive measures.