HTHSCI 1LL3 Lecture Notes - Lecture 12: Chromatin, Telomerase, Asthma

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Genetics: genes control some of our characteristics, 22 pairs of autosomes & 1 sex pair (female xx, male xy, haploid- 1 set of chromosome (germ cells-egg or sperm, diploid- both sets of chromosomes (egg & sperm) Females (xx) have to inherit 2 copies of the defective gene- can be carriers of colour blindness. Mutations & polymorphisms: everyone has a slightly different sequence of nucleotides, not really a mutation just variation in snps. Snp: single nucleotide polymorphism: single base pair left out, added or substituted! (aatcgt aaccgt). Often have consequences: can affect protein product itself, amount of protein, time of protein release. What is epigenetics? (cid:862)epi(cid:863) aka (cid:862)o(cid:374) top of(cid:863); epigenetics studies changes to the expression of genes, without any change in the underlying. Layer on top of the dna that controls when, where and how these proteins (genes) get expressed. These changes can be brought about due to diet, lifestyle factors and other environmental exposures- not permanent changes.

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