Introduc)on to Gene)cs How to Analyze Your Own Genome Fall 2013
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1 Introduc)on to Gene)cs How to Analyze Your Own Genome Fall 2013
2 Overview Primer on gene<cs Cell, chromosomes, and DNA Mendel s experiment Mendel s three postulates Mendel s two laws of inheritance Recombina<on
3 Cells, Chromosomes, and DNA
4 Diploid vs. Haploid Organisms Diploid Organisms 2 copies of each chromosome in a cell for most of its life cycle e.g., Humans, fruit flies, mice Haploid Organisms 1 copy of each chromosome for most of its life cycle e.g. Bacteria, yeasts and molds, some plants such as bryophytes (mosses) chromosomes chromosomes
5 Diploid and Haploid Cells in Human Body Most cells in human body are diploid Egg/sperm cells are haploid
6 Homologous Chromosomes in Diploid Cell In each homologous pair of chromosomes, one member is derived from each parent.
7 Gregor Mendel Greg Mendel ( ) St. Thomas s Abbey, Brno, Czech Republic Green pea experiment
8 Mendel s Three Postulates of Inheritance I Unit factors exist in pairs Implies homologous chromosomes!
9 Mendel s Three Postulates of Inheritance II In pair of unit factors for a single characteris<c in an individual: one unit factor is dominant and the other is recessive D: dominant d: recessive D d
10 Dominant vs Recessive D: dominant d: recessive Individuals with DD: individuals show the trait associated with D Dd: individuals show the trait associated with D dd: individuals show the trait associated with d
11 Mendel s Three Postulates of Inheritance III Paired unit factors segregate (separate) independently during gamete forma<on Law of Segrega)on Homologous chromosomes that can be separated to form haploid cells!
12 Mendel s First Law Characters are controlled by pairs of genes which separate during the forma<on of the reproduc<ve cells (meiosis) A a A a
13 Mendel s Experiment: Stage 1
14 Mendel s Experiment: Stage 2
15 Mendel s Experiment Hypothesis: If Mendel s first law was true, the ra<o of tall and dwarf peas should be 3:1 Experimental valida<on: In Mendel s green pea experiments, the ra<o was indeed 3:1
16 Mendel s Pea Experiments
17 Mendel s Second Law When two or more pairs of gene segregate simultaneously, they do so independently. A a B b
18 Mendel s Second Law When two or more pairs of genes segregate simultaneously, they do so independently. A a; B b A B A b a B a b
19 Mendel s Second Law Green pea experiments again: Color G: yellow g: green Shape W: Round w: wrinkled GGWW x ggww" GgWw x" GgWw " GGWW GGWw GGwW GGww" 16 possible genotypes " " GgWW GgWw GgwW Ggww" and 4 possible ggww ggww ggww Ggww" phenotypes ggww ggww ggww ggww "
20 Mendel s Second Law
21 Excep)ons to Mendel s Second Law Morgan s frui0ly data (1909): 2,839 flies Eye color A: red a: purple Wing length B: normal b: ves<gial AABB x aabb" AaBb x aabb" AaBb Aabb aabb aabb" Exp " Obs 1, ,195"
22 Excep)ons to Mendel s Second Law When two or more pairs of gene segregate simultaneously, they do so independently. D W d w G g
23 Morgan s explana)on A B A B a b a b F1: A a B b a b a b F2:" A B a b a b a b A b a b a B a b Crossover has taken place"
24 Recombina)on Parental types: AaBb, aabb Recombinants: Aabb, aabb The propor<on of recombinants between the two genes (or characters) is called the recombina/on frac/on between these two genes. Recombina/on frac/on It is usually denoted by r or θ. For Morgan s traits: r = ( )/2839 = If r < 1/2: two genes are said to be linked. If r = 1/2: independent segrega<on (Mendel s second law). Now we move on to (small) pedigrees.
25 How Can We Iden)fy the Unknown Disease Locus? Idea: Given a map of gene<c markers, let s look for the markers that are linked to the unknown disease locus (i.e. linkage between the disease locus and the marker locus) Disease Locus Marker near the disease locus (r<<0.5) Markers far from the disease locus (r=0.5)
26 Summary Mendel s two laws of inheritance Morgan s experiment Excep<ons to Mendel s law Recombina<on: two genes on the same chromosome can be linked and inherited together to offsprings.
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