Genome Variation

Question 1

Describe the structure of The Human Genome

Answer 1

• Gross structure has 23 chromosomes
  Molecular structure contains the DNA sequence

Question 2

How big is the human genome?

Answer 2

• Has about 3 billion bases (3000Mb)
• 20,000 genes
• 1.5% of the genome codes for protein = exome

Question 3

How are Micro and Macro levels of differences similar?

Answer 3

• Macro level differences are generally associated with disease (aneuploidy)
• Micro and molecular level pathogenic differences sometimes associated with disease (point mutation)

Question 4

What part of the gene affects your traits?

Answer 4

Coding variants affects traits such as height, hair colour

Question 5

How similar are humans in terms of DNA?

Answer 5

Humans have 99.7% of DNA similar to one another

Question 6

What is considered as a variant?

Answer 6

Any position in the genome that varies between individuals is considered polymorphic (A Variant)

Question 7

How is a mutation in the gene generally spotted out?

Chromosome 11: ACTTGATCACCTAGCT
Chromosome 11: ACTTGATCACCTAGCA
Reference: ACTTGATCACCTAGCT

Answer 7

• Position 17 = T/A = polymorphism
• The reference allele = T
• Most common allele = T
• Minor allele = A
• Minor allele frequency = 25% or 0.25

Question 8

What does SNV/SNP stand for?

Answer 8

Single nucleotide Variant (SNV) or Polymorphism (SNP)