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Human genome and disease
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Human Genome andDisease
Human Genome Organisation, Evolution and Variability
DNA
~ 2 meters in length in diploid human genome
- Length of linear naked DNA in average human diploid cell- still too long too fit
inside cell
- Nucleus is 50μm in diameter
How is DNA packaged and folded some more
Nucleosomes- form fundamental unit of chromosomal packaging
Coiling and Supercoiling of nucleosomes- Chromatin and
Chromosomes
Model 1- Supercoiling nucleosomes
- 10nm Nucleosomes supercoil to form 30nm superhelix – 6 nucleosomes
per turn
Model 2- Radial-loop scaffold model
- Non-histone proteins bind at regular intervals to form loops tethering
30nm superhelices
, Most condensed form- Metaphase Chromosomes
G-banding, Idiotypes and Karyotypes
Staining of metaphase chromosomes with GIEMSA STAIN
Heterochromatic- AT-rich chromatin stains DENSER
Euchromatic- GC- rich chromatic stains FAINTER
Karyotyping- process of pairing and ordering all chromosomes of organism
- Provide genome wide snapshot of individuals chromosomes
- Can be used to detect LARGE ABNORMALITIES in chromosomes
Genome- Sum total of ALL genetic information in organism
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