Lecture notes

GEN 2: Defining the Genome I - Chromosomes

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Module
Genetics

Institution
Imperial College London (ICL)

Lecture notes from Imperial College London, Medical Biosciences BSc, 2nd year, genetics and genomics (GEN) module. Focus on nuclear chromosomes: learn how 2 metres of DNA is somehow packaged into these tiny chromosomes and understand some key features of chromosomes that determine their structur...

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Uploaded on October 4, 2023
Number of pages 6
Written in 2022/2023
Type Lecture notes
Professor(s) Andy porter
Contains All classes

genetics
genomics
genome
nuclear
chromosome
dna
autosome
sex chromosome
mitochondria
disease
mitotic
meiotic
mendel
inheritance
gametes
pedigree
karyotypes

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Genetics & Genomics module Imperial College London

£ 71.91 £ 42.49 9 items

1. Lecture notes - Gen 10: new and future developments
2. Lecture notes - Gen 5: mapping the genome
3. Lecture notes - Gen 9: engineering the genome
4. Lecture notes - Gen 7: expressing the genome
5. Lecture notes - Gen 2: defining the genome i - chromosomes
6. Lecture notes - Gen 6: replicating the genome
7. Lecture notes - Gen 4: comparative genomics
8. Lecture notes - Gen 1: key terms and concepts in genetics & genomics
9. Lecture notes - Gen 3: defining the genome ii - dna
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Defining the Genome I - Chromosomes
Mitosis & Meiosis
- cytogenetic: field where microscopic analysis of cellular structures (specifically nuclear chr) is used
to investigate inheritance
- mitosis: normal cell division (somatic cells)
=> 1 cell divides into 2 daughter cells (division of sister chr)
=> follow a S-phase (chr duplication)

(2 sets of chr - microtubules extend from centrosomes)
IS-phase)
(Condensation - mitotic spindle extends bw centrioles - membrane breaks down)

(Centrioles at opposite poles)

- meiosis: formation of gametes
=> 1 cell divides into 4 daughter cells with half amount of genetic inf. (haploid chr)
=> sex cells, gametes (sperm/ eggs)
=> 2 cell divisions: homologues (I) + sisters (II)
=> recombination between homologues (prophase I):
DNA from paired chr of parents cross over each other
to exchange nucleotide sequences => changed chr

, Cytogenetic and the human karyotype
- “metaphase spreads” to count chr: stop cell cycle in metaphase (condensed + distinguishable chr)
- X-shaped structure: pair of sister chromatides (DNA replication of 1 chr) joined at centromere
(end of each chromatid = telomere)

- karyotype = complete set of chr (numbered according to length)
=> determined via G-banding (dye Giesma stain chr: light/ dark bands), length, centromere position

22 homologous pairs (autosomes) + 2 sex chr (allosome)
(only father’s chr determine sex of child)

- euploid cells = normal chr number
- aneuploid = abnormal chr number
- fluorescent in situ hybridisation (FISH): DAPI stains chr
+ hybridisation of the fluorescently labelled DNA probes
identifies specific regions (telomere...)

Chromosomal theory of Mendelian inheritance
- Mid 19th: chr first seen
- Mid 19th: nuclear genetic material + inheritance through germ cells
- 1902: connection w/ Mendelian inheritance: homologous chr separate (haploid) and pair again
(diploid) during fertilisation
- 1905: gender determined by sex chr => genes carried by chromosomes

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