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Lecture outlineLecture outlineDown Syndrome: ClarificationDown Syndrome: ClarificationPatterns of Inheritance: IntroductionPatterns of Inheritance: Introduction
Why study genetics?Why study genetics?Useful vocabularyUseful vocabularyHistorical perspective: Gregor Mendel’s Historical perspective: Gregor Mendel’s
studiesstudiesPatterns of Inheritance: ConceptsPatterns of Inheritance: Concepts
Inheritance of single traitsInheritance of single traits Inheritance of multiple traitsInheritance of multiple traits
Same chromosomeSame chromosomeDifferent chromosomeDifferent chromosome
Down SyndromeDown Syndrome Occurs due to non-Occurs due to non-
disjunction during disjunction during anaphase of meiosis 1 anaphase of meiosis 1 (sketch)(sketch)
Results in 3 copies of Results in 3 copies of chromosome 21chromosome 21
25% of cases are 25% of cases are caused by abnormal caused by abnormal spermsperm
Note size of Note size of chromosomechromosome Why important?Why important?
Why study patterns of inheritance?Why study patterns of inheritance?
Understand genetic disease Understand genetic disease What does the diagnosis mean?What does the diagnosis mean?How do they get the “odds” that a child will How do they get the “odds” that a child will
have a disease?have a disease?What is gene therapy?What is gene therapy?
Make informed decisions about Make informed decisions about genetically-modified organismsgenetically-modified organismsWhat a GMO is, and what it is not…What a GMO is, and what it is not…
Patterns of InheritancePatterns of Inheritance VocabularyVocabulary
GeneGene LocusLocus TraitTrait AlleleAllele Homologous chromosomesHomologous chromosomes HomozygousHomozygous HeterozygousHeterozygous genotypegenotype phenotypephenotype DominantDominant recessiverecessive
11 22 33 44 55 66 77 88 99 1010 1111 1212 1313 1414 1515 1616 1717 1818 1919 2020 2121 2222 2323 2424 2525 2626Loci:Loci:
Chromosome from One ParentChromosome from One Parent
Homologous Chromosome from Other ParentHomologous Chromosome from Other Parent
11 22 33 44 55 66 77 88 99 1010 1111 1212 1313 1414 1515 1616 1717 1818 1919 2020 2121 2222 2323 2424 2525 2626Loci:Loci:
M locus has gene that
controls leaf color. Plant
homozygous for this gene
D locus has gene that
controls plant height. Plant homozygous for this gene
Bk locus has gene that
controls fruit shape. Plant
heterozygous for this gene
Gregor MendelGregor Mendel
His BackgroundHis Background
Experimental designExperimental design1.1. Chose pea plants with Chose pea plants with
distinct “either/or” distinct “either/or” characterisitcscharacterisitcs
2.2. Could control fertilization of Could control fertilization of plantsplants
• Performed “crosses” of Performed “crosses” of specific combinationsspecific combinations
3.3. Used statistics to analyze his Used statistics to analyze his datadata
His work revealed His work revealed patterns of inheritancepatterns of inheritance
Crosses with single traits: Crosses with single traits: First generation (F1)First generation (F1)
Which trait is dominant?Which trait is dominant?
Principles of inheritance that Principles of inheritance that cause this resultcause this result
True-breeding” plants are homozygous True-breeding” plants are homozygous for the particular trait in questionfor the particular trait in questionEach parent contributes only one allele typeEach parent contributes only one allele type
F1 Offspring are heterozygotesF1 Offspring are heterozygotes
Each parent contributes one of two Each parent contributes one of two allele typesallele types
Crosses with two traitsCrosses with two traits If genes are on different chromosomes, they If genes are on different chromosomes, they
sort independentlysort independently
Genes on the same chromosome Genes on the same chromosome tend to be inherited togethertend to be inherited together
They are on the same chromosome. They are on the same chromosome. Considered to be “linked”.Considered to be “linked”.
Recombination creates new Recombination creates new combination of “linked” allelescombination of “linked” alleles
The farther away two genes are on a The farther away two genes are on a chromosome from each other, the more chromosome from each other, the more likely they will be exchanged during likely they will be exchanged during crossing over crossing over