Module 3 (Human Molecular Genetics) Overview

Question 1

Key Human Genome Project findings

Answer 1

Fewer genes than expected
Less than 2% of genes code for proteins
The genome is dynamic
Many genes have unknown function
Most of our genes are related to animals
Humans are all 99.9& similar

Question 2

Techniques to find out gene functions

Answer 2

Study those naturally mutant
Genome sequence
Transgenesis
CRISPR

Question 3

Variations in human genome

Answer 3

Single Nucleotide Polymorphisms (SNPs)
Short Tandem Repeats (STRs)
InDels
Copy Number Variants (CNVs)

Question 4

Germline corrections to genome

Answer 4

Preimplantation (IVF)
CRISPR edited babies
Three parent babies

Question 5

Embryonic Development

Answer 5

8-cell stage
Cell polarisation
Compaction
Cell division
Blastocyst

Question 6

Cell Differentiation

Answer 6

1. Inactive genes
2. Something happens that turns blastocyst into myoblast
3. MyoD activated and turn on genes
4. Protein synthesis
5. Terminally differentiated

Question 7

Types of diseases

Answer 7

Monogentic (Haemapillia A and B, Huntingtons, Cystic fibrosis)
Polygentic (Obesity, Diabetes, Rheumatoid Arthritis)

Question 8

Types of stem cells

Answer 8

Embryonic stem cells (pluripotent)
Adult (tissue) stem cells (multipotient)
Umbilical cord stem cells (multipotient)
Induced pluripotent stem cells