inheritance1 - Syllabus Principles of Genetics EFB307 I'm...

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1 Principles of Genetics, EFB307 I’m back! – Dr. Powell, Office: 319 Illick Hall – Dr. Maynard, Office: 216 Marshall hall Syllabus Mendelian Analysis Gregor Mendel (Father of genetics) Christian Monk - in a monastery dedicated to the teaching and doing scientific research applied the “scientific method” Observe (background data) > hypothesis > experiment > conclusions Goal is to disprove hypothesis, if you can’t, then it is supported Terms • gene - The fundamental physical and functional unit of heredity which carries information from one generation to the next. • allele - One of the different forms of a gene that exist at a single locus. – different sequence different function – Note: today’s mutation is tomorrow’s allele • locus - location of the gene on a chromosome More terms • genotype - The specific allelic composition of a cell. • phenotype - The detectable outward manifestations of a specific genotype. – traits What is the relationship between genotype and phenotype? • Organisms phenotype < phenotypes of its cells • Cell phenotype < internal chemistry – Mainly controlled by enzymes • Enzyme function is determined by its 3-D structure – mainly controlled by amino acid sequence • Amino acid sequence < DNA sequence of gene – Genotype • Therefore, genotype (DNA sequence) determines phenotype (outward appearance)
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2 Example: human genetic disease phenylketonuria (PKU) • Autosomal recessive gene – Requires homozygous alleles for disease – Mental retardation and early death • Allele encodes a disfunctional enzyme • Homozygous alleles result in the inability to covert phenylalanine into tyrosine phenylalanine Phenylalanine hydroxylase tyrosine Phenylpyruvic acid (toxic to cells) One-gene-one-enzyme hypothesis • Most cellular components result from many enzymes catalyzing various intermendiates a biochemical
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inheritance1 - Syllabus Principles of Genetics EFB307 I'm...

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