The Human Genome

Question 1

How was it done?

Answer 1

Individual labs on separate chromosomes

Robots for large number of PCR tests/sequencing reactions

Question 2

Phases of the human genome project?

Answer 2

Phase 1: produce good quality chromosomal maps
Position genetic markers (and genes)
Create libraries of BAC clones for sequencing (physical map)
Phase2: sequence each BAC DNA
Phase3: collect sequences for final draft and annotate to identify genes

Question 3

Overview of phases

Answer 3

Genomic DNA 
BAC library
Organised mapped large clone contigs
BAC to be sequenced 
Shotgun clones
Shotgun sequence
Assembly

Question 4

Use of Human genome

Answer 4

Identify all genes and predict uses
Use this to better understand disease
Medicines forensics ect

Question 5

What we learned

Answer 5

1. what we have in our genome (how many genes)
2. How do humans compare to other species (evolutionary relatedness many highly conserved pathways ones important for life nuclei can acid synthesis, regulatory molecules, protein transport modular domains allow novel genes/proteins nature is a tinkerer!) can be human specific variants in gene sequence eg speech gene FOXP2 2AA difference in humans and chimps also human specific loss
3. What make humans different from each other? (Variation visible at genome scale. 2 major ones - SNPs and copy number variants! Paves way for Identify SNPs associated with genetic disorders
4. long term practical uses ( research! Info now available + equipment. Medical advances - pharmacogenomics, consequences of illness/drug action, diagnose simple + complex disorders d