ANHB1101 Lecture 16: HUMAN GENETICS

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Genetics= is the study of genes/ genomes and their variation. Summary of our genetic material- biological blueprint: nuclear genome= around 3 billion bases, 23 pairs of chromosomes per cell (non- gamete) diploid, mitochondrial genome= around 16. 5 thousand bases- circular and multiple copies per cell. Current medical research tends to focus on polygenic traits and diseases. Themes of this lecture: genome, chromosomes, dna and packaging, genes, transcription and translation. In its condensed and packaged form it is called a chromosome. + (cid:858)(cid:271)eads o(cid:374) a st(cid:396)i(cid:374)g(cid:859), st(cid:396)i(cid:374)g (cid:271)ei(cid:374)g d(cid:374)a a(cid:374)d (cid:271)eads (cid:271)ei(cid:374)g histo(cid:374)e p(cid:396)otei(cid:374)s- 10nm. + dna wraps more around histones and begins to clump- 30nm fiber. + tighter packaging of the loops in heterochromatin and the mitotic chromosome- Sugar phosphate backbone with paired bases forms the double helix structure. Dna is antiparallel= 3 prime to 5 prime , complementary strand is 5 prime to 3 prime. 5 prime is where carbon has phosphate group attached.

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