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L5 C'some structure and mitosis

L5 C'some structure and mitosis - Chromosome structure and...

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Chromosome structure and mitosis 1
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Last Time Pedigree analysis Predicting inheritance outcomes Sum Rule, Product Rule, Binomial Expansion Assessing the validity of genetic hypothesis Chi Square test 2
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Chromosome structure and mitosis Chromosome structure Cell division Binary Fission (prokaryotes) Mitosis/Cell cycle (eukaryotes) structures phases 3
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Chromosome structure DNA molecule associated proteins Genes are distinct regions of DNA that code for proteins or RNA products 4
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Prokaryotic chromosome Circular chromosome nucleoid region http://www.bact.wisc.edu/themicrobialworld/bactDNA1.jpg 5
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Eukaryotic chromosome nucleus chromosomes mitochondria (source of extra- nuclear DNA) 6
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Karyotypes (dyed chromosomes) http://darwin.nmsu.edu/~molbio/diabetes/images/karyo-2.GIF spin blood cells add hypotonic solution to pellet spin, fix, stain 7
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Homologous chromosomes homepages.uel.ac.uk/V.K.Sieber/solidktp.jpg homologous chromosomes of chromosome 1 p q 8
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Homologous chromosome have the same genes in the same order Chromosome 1 1 from dad 1 from mom Genes 9
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Different versions of genes are called alleles Genotype? AA Bb cc Homologous chromosomes 10
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Scientific paper describing OCA2 gene - eye and hair color (pigmentation) www.ajhg.org The American Journal of Human Genetics Volume 80 February 2007 241 ARTICLE A Three–Single-Nucleotide Polymorphism Haplotype in Intron 1 of OCA2 Explains Most Human Eye-Color Variation David L. Duffy, * Grant W. Montgomery, * Wei Chen, Zhen Zhen Zhao, Lien Le, Michael R. James, Nicholas K. Hayward, Nicholas G. Martin, and Richard A. Sturm We have previously shown that a quantitative-trait locus linked to the OCA2 region of 15q accounts for 74% of variation in human eye color. We conducted additional genotyping to clarify the role of the OCA2 locus in the inheritance of eye color and other pigmentary traits associated with skin-cancer risk in white populations. Fifty-eight synonymous and nonsynonymous exonic single-nucleotide polymorphisms (SNPs) and tagging SNPs were typed in a collection of 3,839 adolescent twins, their siblings, and their parents. The highest association for blue/nonblue eye color was found with
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