Lecture 11 Human Genetics

Lecture 11 Human Genetics - Human Genetics Channelopathies...

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Unformatted text preview: Human Genetics Channelopathies Human Chromosomes 2 pairs of 22 autosomes 2 sex chromosomes- male XY- female XX 46 chromosomes Human-Chimpanzee Chromsome Comparison Single Nucleotide Polymorphisms (SNPs) DNA mRNA transcription splicing exon intron Human Genome Project • human genome approximately 3 billion base pairs (A, C, T, and G) • total number of genes is estimated at ≈ 20,500 • less than 1.5% of the genome codes for proteins. • repetitive sequences ("junk DNA") make up at least 50% of the human genome • repetitive sequences reshape the genome by rearranging and modifying genes • almost all (99.5%) nucleotide bases are exactly the same in all people • about 3.5 million locations where single-base DNA differences (SNPs) occur have been identified to date Comparative Genomics • human • mouse • rat • chimpanzee • dog • pufferfish ( Fugu rubripes) • fruit fly ( Drosophila melanogaster ) • roundworm ( Caenorhabditis elegans) • brewers' yeast ( Saccharomyces cerevisiae ) • weed ( Arabidopsis thaliana) • rice • bacteria (E. coli) Human Disease Genetics Multifactorial – multiple suceptibility genes contribute to disease Single Gene Disorders – simple Mendelian inheritance – dominant or recessive genotype vs phenotype incomplete penetrance • Periodic Paralyses – voltage-gated Na Channel – voltage-gated Ca channel • Cystic Fibrosis – Cl channel • Long QT syndrome – voltage-gated K channels...
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Lecture 11 Human Genetics - Human Genetics Channelopathies...

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