designer genes - heredity
TRANSCRIPT
Heredity (B) -2014 Heredity (B) -2014 KAREN LANCOURKAREN LANCOUR HEREDITY HEREDITY
NATIONAL SUPERVISORNATIONAL [email protected]
Event Rules – 2014 Event Rules – 2014
DISCLAIMERDISCLAIMERThis presentation was prepared This presentation was prepared using draft rules. There may be using draft rules. There may be some changes in the final copy of the some changes in the final copy of the rulesrules. . The rules which will be in your The rules which will be in your Coaches Manual and Student Coaches Manual and Student Manuals will be the official rules.Manuals will be the official rules.
Event Rules – 2014 Event Rules – 2014
BE SURE TO CHECK THE BE SURE TO CHECK THE 2014 EVENT RULES 2014 EVENT RULES FOR FOR EVENT PARAMETERS AND EVENT PARAMETERS AND TOPICS FOR EACH TOPICS FOR EACH COMPETITION LEVELCOMPETITION LEVEL
TRAINING MATERIALSTRAINING MATERIALS Training Power Point Training Power Point – content overview– content overview Training Handout Training Handout - content information- content information Sample Tournament Sample Tournament – sample problems with key – sample problems with key Event Supervisor Guide Event Supervisor Guide – prep tips, event needs, – prep tips, event needs,
and scoring tips and scoring tips Internet Resource & Training CD’s Internet Resource & Training CD’s – on the – on the
Science Olympiad website at Science Olympiad website at www.soinc.org under Event Informationunder Event Information
Biology-Earth Science CDBiology-Earth Science CD,, Genetics CD (updated) Genetics CD (updated) for Heredity and Designer Genes as well as the for Heredity and Designer Genes as well as the Division B and Division C Test PacketsDivision B and Division C Test Packets are are available from SO store atavailable from SO store at www.soinc.org
Heredity Heredity (B)(B)
Content Basic principles of genetics Some possible areas – dominant,
recessive, incomplete dominance, co-dominance, monohybrid & dihybrid crosses, test cross, multiple alleles, sex-linkage, genotype, phenotype, epistasis, mutations, multifactorial traits, pedigrees, karyotypes, mitosis, meiosis, nondisjunction, genetic disorders, DNA structure and replication, transcription, translation, common genetic disorders
Process Skills – data analysis, predictions, calculations, inferences, observations
Possible Topics for Various Levels
Regional & State Regional & State National (all topics)
Monohybrid crossMonohybrid cross Dihybrid crossDihybrid cross Pedigree construction and Pedigree construction and analysis analysis
Dominant and recessive Dominant and recessive allelesalleles
Sex-linked traitsSex-linked traits Production of gametes with Production of gametes with Abnormal #’s of Abnormal #’s of chromosomeschromosomes
Genotype vs. phenotypeGenotype vs. phenotype Pedigree analysis Pedigree analysis Trihybrid cross (probability Trihybrid cross (probability analysis)analysis)
Human sex determinationHuman sex determination Multiple allelesMultiple alleles Analysis of karyotypes for Analysis of karyotypes for deletion,deletion,
addition, translocationaddition, translocationGene: protein relationshipGene: protein relationship DNA structure & DNA structure &
replicationreplicationTranscription and translation Transcription and translation
Mitosis Mitosis Meiosis and gamete Meiosis and gamete formationformation
Multifactorial traits Multifactorial traits
Human karyotypes analysis Human karyotypes analysis for nondisjunction for nondisjunction disordersdisorders
Co-dominance &Co-dominance &Incomplete Dominance Incomplete Dominance
EpistasisEpistasis
PRINCIPLES OF PRINCIPLES OF GENETICS GENETICS GENESGENES – come in pairs – come in pairs
Section of DNA – codes protein or part of Section of DNA – codes protein or part of protein protein
One from each parent One from each parent ALLELEALLELE – different forms of a gene – different forms of a gene MULTIPLE ALLELES MULTIPLE ALLELES – more than 2 – more than 2
forms of a gene forms of a gene HOMOZYGOUSHOMOZYGOUS – same alleles– same alleles HETEROZYGOUSHETEROZYGOUS – different alleles– different alleles
Dominant vs. Recessive Dominant vs. Recessive Dominant Dominant –– always always
expressed expressed Capital letters – Capital letters – NN Homozygous - Homozygous - NNNN Heterozygous - Heterozygous - NNnn
Recessive Recessive –– prevented prevented by dominantby dominant Lower case letters – Lower case letters – nn Homozygous – Homozygous – nnnn
Punnett Square – Punnett Square – Box showingBox showingallele combinations allele combinations
Dominant and Dominant and RecessiveRecessive Autosomal DominantAutosomal Dominant
Dominant gene on an autosomeDominant gene on an autosome Autosomal RecessiveAutosomal Recessive
Recessive gene on an autosome Recessive gene on an autosome Sex-linked DominantSex-linked Dominant
Dominant gene on a sex chromosomeDominant gene on a sex chromosome Sex-linked RecessiveSex-linked Recessive
Recessive gene on a sex chromosomeRecessive gene on a sex chromosome
Monohybrid Cross Monohybrid Cross HybridHybrid – Ss– Ss X SsX SsOne TraitOne Trait – Smooth vs – Smooth vs
wrinkled wrinkled Two gametes per Two gametes per
parentparentS and s S and s
Punnett SquarePunnett Square with 4 with 4 boxes – 4 offspringboxes – 4 offspring
Genotype & Phenotype Genotype & Phenotype
GenotypeGenotype PhenotypePhenotype SS or Ss Round SS or Ss Round ss Wrinkledss Wrinkled
Genotype frequencyGenotype frequency 1:2:1 1:2:1
Phenotype frequencyPhenotype frequency 3:1 3:1
DihybridDihybrid Cross Cross
Dihybrid Dihybrid – 2 traits – 2 traits Gametes per parentGametes per parent
= 4= 4Punnett SquarePunnett Square – 16 – 16
boxes boxes Genotype ratioGenotype ratio 1:2:1:2:4:2:1:2:11:2:1:2:4:2:1:2:1Phenotype ratioPhenotype ratio 9:3:3:1 9:3:3:1
Incomplete DominanceIncomplete Dominance HybridHybrid is a blend of is a blend of
two traitstwo traits Genotype frequencyGenotype frequency
1:2:11:2:1 Phenotype Phenotype
frequencyfrequency1:2:11:2:1
ExamplesExamples:: Flowers, Animal furFlowers, Animal fur
Co-dominance Co-dominance More than one dominant alleleMore than one dominant allele Blood types – Blood types – A,B,O allelesA,B,O alleles Phenotypes GenotypesPhenotypes Genotypes
A A I I A AII A A or or II A Ai i B IB IBBIIB B or Ior IBBiiAB AB I I A AIIBB
O O ii ii
Co-dominance
co-dominanceco-dominance – both dominant alleles (genes) in an individual are – both dominant alleles (genes) in an individual are expressed as blood typesexpressed as blood types
A and B genes are co-dominant and both dominant over the O A and B genes are co-dominant and both dominant over the O gene which is recessive gene which is recessive
Independent Independent Assortment Assortment vs. vs. Linkage Linkage
Independent AssortmentIndependent Assortment – genes on – genes on different chromosomes separate different chromosomes separate independently during meiosisindependently during meiosis
LinkageLinkage – genes on the same – genes on the same chromosome are inherited as a groupchromosome are inherited as a group Autosomal linkageAutosomal linkage – on – on
autosomesautosomes Sex-linkedSex-linked – on sex chromosomes– on sex chromosomes
Linkage – Sex LinkageLinkage – Sex Linkage LinkageLinkage – genes on the same – genes on the same
chromosome inherited as a groupchromosome inherited as a group Sex-linkageSex-linkage – genes on sex – genes on sex
chromosomes (esp. X)chromosomes (esp. X) Y-chromosome shorterY-chromosome shorter – – some some
genes from X missinggenes from X missing X-linked traitsX-linked traits more common in more common in
menmen Men get X-chromosome from mom Men get X-chromosome from mom Red-green colorblindness, Red-green colorblindness,
hemophiliahemophilia
Environmental Environmental influence on genes influence on genes expression expression
Gene function Gene function is influenced by is influenced by environment as with identical twins environment as with identical twins
Genes Genes have blueprint for proteins or have blueprint for proteins or parts of proteinsparts of proteins
Proteins Proteins can be structural proteins can be structural proteins (parts of body) or functional (parts of body) or functional proteins (hormones/enzymes)proteins (hormones/enzymes)
Epistasis and Epistasis and Multifactorial Multifactorial Inheritance Inheritance
EpistasisEpistasis - the interaction between - the interaction between two or more genes to control a single two or more genes to control a single phenotypephenotype
Multifactorial inheritanceMultifactorial inheritance - many - many factors (multifactorial) both genetic factors (multifactorial) both genetic and environmental are involved in and environmental are involved in producing the trait or condition. producing the trait or condition. Examples: Examples: height, weight, cleft palate, height, weight, cleft palate, spina bifida spina bifida
Pedigree Symbols Pedigree Symbols
GenerationsGenerations = I – Original Parents, II- F1 (children), III – F2 (grandchildren)
Pedigree – Curly vs Pedigree – Curly vs Straight Hair Straight Hair
Types of AnalysisTypes of Analysis Relationships Relationships Dominant GeneDominant Gene – H – H
CurlyCurly Recessive GeneRecessive Gene – h – h
Straight Straight Genotypes Genotypes PhenotypesPhenotypes
KaryotypesKaryotypes Pairs 1-22Pairs 1-22 =Autosomes =Autosomes XYXY = Sex chromosomes= Sex chromosomes MaleMale = X & Y= X & Y FemaleFemale = only X= only X NondisjunctionNondisjunction Extra chromosomesExtra chromosomes
(Trisomy)(Trisomy) Missing Missing
chromosomeschromosomes(Monosomy)(Monosomy)
Cell Cycle Cell Cycle InterphaseInterphase
G1G1 S – DNA replicatesS – DNA replicates G2G2
MitosisMitosis ProphaseProphase MetaphaseMetaphase AnaphaseAnaphase Telophase Telophase
Mitosis vs Meiosis Mitosis vs Meiosis MitosisMitosis
Growth and Asexual ReproductionGrowth and Asexual Reproduction One division – 2 diploid cells One division – 2 diploid cells Genetically same as originalGenetically same as original
MeiosisMeiosis Gametes for Sexual ReproductionGametes for Sexual Reproduction 2 divisions – 4 haploid cells2 divisions – 4 haploid cells
DNA Structure DNA Structure Double helix Double helix Antiparallel Antiparallel – 3’ to – 3’ to
5’5’ NucleotideNucleotide
Deoxyribose sugarDeoxyribose sugar PhosphatePhosphate Nitrogen basesNitrogen bases
AdenineAdenine ThymineThymine GuanineGuanine CytosineCytosine
DNA DNA Replication Replication
ReplicationReplication (in (in nucleus) nucleus)
DNADNA uncoils & uncoils & splitssplits
ReadsReads 3’ to 5’ 3’ to 5’ AssemblesAssembles 5’ to 3’ 5’ to 3’ 4 types4 types of of
nucleotidesnucleotides OkazakiOkazaki fragments fragments
Types of RNA Types of RNA Differences between DNA & RNADifferences between DNA & RNA
Single strandSingle strand Ribose instead of DeoxyriboseRibose instead of Deoxyribose Uracil instead of ThymineUracil instead of Thymine
Messenger RNAMessenger RNA – carries blueprint– carries blueprint Transfer RNATransfer RNA – brings amino acids– brings amino acids Ribosomal RNARibosomal RNA – reads code– reads code
Transcription & Transcription & TranslationTranslation
TranscriptionTranscription – makes RNA (in – makes RNA (in nucleus)nucleus)
Translation (protein synthesis) Translation (protein synthesis) --Reads blueprint and makes Reads blueprint and makes protein or part of protein (in protein or part of protein (in cytoplasm at the cytoplasm at the ribosome)ribosome)
Transcription of RNA Transcription of RNA from DNAfrom DNA
Transcription: Transcription: Synthesis of RNA from a DNA Template. Synthesis of RNA from a DNA Template. Requires DNA-dependent RNA polymerase plus the Requires DNA-dependent RNA polymerase plus the
four nucleotides (ATP, GTP. CTP and UTP). four nucleotides (ATP, GTP. CTP and UTP). Synthesis begins at a the initiation site on DNA Synthesis begins at a the initiation site on DNA The template strand is read 3' to 5' and the mRNA is The template strand is read 3' to 5' and the mRNA is
synthesized 5' to 3' synthesized 5' to 3'