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Lecture notes BHCS2003 - Genetics

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The first 2 lectures of BHCS2003 where we are introduced to the human genome, all the knowledge is built up from these lectures so know the facts

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Introduction to the human
genome

The Human Genome

Humans are diploid- the genome sequence is divided into 23 pairs of
chromosomes

If the DNA in 1 cell is stretched out it would be 2m in length



Human Genome Packaging

Chromosomes packing in eukaryotic cells

DNA wraps around nucleosomes- they are primarily made of histones (2xH2A,
H2B, H3, and H4)

Nucleosomes coil further into a come compact fiber (-30 nm in diameter) (H1
stabilisation)

Looped domains coil and fold further, producing thicker chromatid fibres

Metaphase chromosomes in the highest level of condensation (during mitosis
or meiosis)




Introduction to the human genome 1

, DNA complexed with various proteins to form chromatin that undergoes
various levels of coiling and compaction

In interphase, chromosome can be in 2 states:
-Euchromatin: most chromosomes are uncoiled and highly extended and loose
in a state that allows gene expression
-Heterochromatin: Tightly packed transcriptionally silent form of chromatin
that often contains repetitive DNA elements including centromere and
telomere DNA

In cells about to undergo division, chromatid attached at centromeres, become
tightly condensed, and as a result genes cannot be expressed




Introduction to the human genome 2

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January 29, 2026
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Written in
2025/2026
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Matt banton
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