BABS1201 Lecture Notes - Lecture 18: Mendelian Inheritance, Xeroderma Pigmentosum, Sickle-Cell Disease

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8 Jun 2018

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BABS1201 Notes – LEC 18, 19

LEC 1: Continued…

• Frameshift:

• Good mutations:

o Sickle cell anaemia - Single AA change causes Hb to form fibres, but the

recessive version of this mutation prevents malaria.

• Bad mutations:

o Xeroderma pigmentosum (XP) – Children of the Night: mutations in skin cells

by UV rays are left uncorrected and can cause skin cancer.

o Phenylketonuria (PKU) – problem with metabolising phenylalanine (AA) and

causes early death if not treated as a child.

LEC 1: Mendel’s laws of heredity

• Eukaryotes have linear chromosomes, multiple chromosomes per genome

• Prokaryotes have circular chromosomes, with plasmids (small circular DNA

molecules, self-replicating, carry genes)

• Locus: place on a chromosome where a gene is located

• Allele: A form or variant of a gene (i.e. eye colour)

• Genotype: Alleles in an individual (i.e. BB, bb)

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