Inheritance (OCR new spec)

Genetic terms you need to know + notes on sickle cell anaemia

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Genetic terms

Gene + Allele - A sequence of bases on a DNA molecule that codes for a protein (polypeptide) is a gene whislt alleles are different versions of the same gene.

Genotype - The alleless an organism has, e.g. Bb, BB or bb for eye colour (b= blue eyes whilst B= Brown eyes

Phenotype - The Characteristics the alleles produce, e.g. brown eyes

Codominant - Alleles that are both expressed in the phenotype - neither one is recessive, e.g. the alleles for haemoglobin

Homozygote - An organism that carries two copies of the same allele, e.g. BB or bb

Heterozygote - An organism that carries two different alleles, e.g. Bb

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Sickle-cell anaemia

Sickle cell is an example of a point mutation.

How does sickle cell anaemia occur?

  • The beta-strands of haemoglobin differ by one amino acid at position 6.
  • In normal haemoglobin, glutamic acid is at position 6, but in sickle-cell haemoglobin, valine is present instead.
  • When this abnormal haemoglobin is deoxygenated it is not soluable and becomes crystalline and aggregates into more linear and less globuar structures.
  • This deforms the red blood cells, making the, inflexible (often sickle shaped) and unable to squeeze through capillaries.
  • After many cycles of oxygenation and deoxgynation some of the cells become irreversibly sickled and some destroyed.
  • If enough sickle-cells become lodged in capillaries blod flow is impeded. Organs, particularly bones, do not recieve enough oxygen, leading to a painful crisis
  • Eventually organs, especially heart, lungs and kidneys become damaged
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