![Page 1: Pedigree Charts The family tree of genetics I II III](https://reader036.vdocuments.net/reader036/viewer/2022081506/56649e0c5503460f94af5923/html5/thumbnails/1.jpg)
Pedigree ChartsPedigree ChartsThe family tree of geneticsThe family tree of genetics
I
II
III
![Page 2: Pedigree Charts The family tree of genetics I II III](https://reader036.vdocuments.net/reader036/viewer/2022081506/56649e0c5503460f94af5923/html5/thumbnails/2.jpg)
OverviewOverview
I.I. What is a pedigree? What is a pedigree? a.a. DefinitionDefinition
b.b. UsesUses
II.II. Constructing a pedigree Constructing a pedigree a.a. SymbolsSymbols
b.b. Connecting the symbolsConnecting the symbols
III.III. Interpreting a pedigree Interpreting a pedigree
![Page 3: Pedigree Charts The family tree of genetics I II III](https://reader036.vdocuments.net/reader036/viewer/2022081506/56649e0c5503460f94af5923/html5/thumbnails/3.jpg)
Pedigree definitionPedigree definition
Pedigree: a family history that shows Pedigree: a family history that shows how a trait is inherited over several how a trait is inherited over several generationsgenerations
Pedigrees are usually used when Pedigrees are usually used when parents want to know if they are parents want to know if they are carriers of a particular disordercarriers of a particular disorder
![Page 4: Pedigree Charts The family tree of genetics I II III](https://reader036.vdocuments.net/reader036/viewer/2022081506/56649e0c5503460f94af5923/html5/thumbnails/4.jpg)
Making a PedigreeMaking a Pedigree
FemaleFemale
MaleMale
Married CoupleMarried Couple
SiblingsSiblings
Filled in symbols indicate individual is affected with a disorder
![Page 5: Pedigree Charts The family tree of genetics I II III](https://reader036.vdocuments.net/reader036/viewer/2022081506/56649e0c5503460f94af5923/html5/thumbnails/5.jpg)
Connecting Pedigree SymbolsConnecting Pedigree Symbols
Fraternal twinsFraternal twins
Identical twinsIdentical twins
Examples of connected symbols:Examples of connected symbols:
![Page 6: Pedigree Charts The family tree of genetics I II III](https://reader036.vdocuments.net/reader036/viewer/2022081506/56649e0c5503460f94af5923/html5/thumbnails/6.jpg)
Example of a PedigreeExample of a Pedigree
You
Parents
Aunts, UnclesAunts, Uncles
GrandparentsGrandparents
BrotherDo any disorders run in this family??
![Page 7: Pedigree Charts The family tree of genetics I II III](https://reader036.vdocuments.net/reader036/viewer/2022081506/56649e0c5503460f94af5923/html5/thumbnails/7.jpg)
Example of Pedigree ChartsExample of Pedigree Charts How is the disorder most likely How is the disorder most likely
inherited?inherited?
Autosomal recessive.
![Page 8: Pedigree Charts The family tree of genetics I II III](https://reader036.vdocuments.net/reader036/viewer/2022081506/56649e0c5503460f94af5923/html5/thumbnails/8.jpg)
AnswerAnswer
RecessiveRecessive
![Page 9: Pedigree Charts The family tree of genetics I II III](https://reader036.vdocuments.net/reader036/viewer/2022081506/56649e0c5503460f94af5923/html5/thumbnails/9.jpg)
Example of Pedigree ChartsExample of Pedigree Charts
How is the disorder most likely How is the disorder most likely inherited?inherited?
Autosomal dominant: The trait runs in every generation and affects several family members.
![Page 10: Pedigree Charts The family tree of genetics I II III](https://reader036.vdocuments.net/reader036/viewer/2022081506/56649e0c5503460f94af5923/html5/thumbnails/10.jpg)
You
Parents
Aunts, UnclesAunts, Uncles
GrandparentsGrandparents
Brother
Sex Linked! The allele is inherited on the x chromosome
![Page 11: Pedigree Charts The family tree of genetics I II III](https://reader036.vdocuments.net/reader036/viewer/2022081506/56649e0c5503460f94af5923/html5/thumbnails/11.jpg)
Interpreting a Pedigree ChartInterpreting a Pedigree Chart
1.1. Determine if the pedigree chart shows an Determine if the pedigree chart shows an autosomal or X-linked disease.autosomal or X-linked disease.
– If most of the affected individuals in the If most of the affected individuals in the pedigree are male the disorder is X-linked pedigree are male the disorder is X-linked
– If there is more of a balance between the If there is more of a balance between the ratio of the men and women the disorder ratio of the men and women the disorder is autosomal.is autosomal.
![Page 12: Pedigree Charts The family tree of genetics I II III](https://reader036.vdocuments.net/reader036/viewer/2022081506/56649e0c5503460f94af5923/html5/thumbnails/12.jpg)
Interpreting a Pedigree ChartInterpreting a Pedigree Chart
2.2. Determine whether the disorder is Determine whether the disorder is dominant or recessive.dominant or recessive.
– If the disorder is dominant, one of If the disorder is dominant, one of the parents must have the disorder.the parents must have the disorder.
– If the disorder is recessive, neither If the disorder is recessive, neither parent has to have the disorder parent has to have the disorder because they can be heterozygous.because they can be heterozygous.
![Page 13: Pedigree Charts The family tree of genetics I II III](https://reader036.vdocuments.net/reader036/viewer/2022081506/56649e0c5503460f94af5923/html5/thumbnails/13.jpg)
SummarySummary
Pedigrees are family trees that Pedigrees are family trees that explain your genetic history.explain your genetic history.
Pedigrees are used to find out the Pedigrees are used to find out the probability of a child having a probability of a child having a disorder in a particular family.disorder in a particular family.
To begin to interpret a pedigree, To begin to interpret a pedigree, determine if the disease or condition determine if the disease or condition is autosomal or X-linked and is autosomal or X-linked and dominant or recessive.dominant or recessive.
![Page 14: Pedigree Charts The family tree of genetics I II III](https://reader036.vdocuments.net/reader036/viewer/2022081506/56649e0c5503460f94af5923/html5/thumbnails/14.jpg)
Pedigree Chart -Cystic FibrosisPedigree Chart -Cystic Fibrosis
![Page 15: Pedigree Charts The family tree of genetics I II III](https://reader036.vdocuments.net/reader036/viewer/2022081506/56649e0c5503460f94af5923/html5/thumbnails/15.jpg)
Human GeneticsHuman Genetics
![Page 16: Pedigree Charts The family tree of genetics I II III](https://reader036.vdocuments.net/reader036/viewer/2022081506/56649e0c5503460f94af5923/html5/thumbnails/16.jpg)
KaryotypeKaryotype
![Page 17: Pedigree Charts The family tree of genetics I II III](https://reader036.vdocuments.net/reader036/viewer/2022081506/56649e0c5503460f94af5923/html5/thumbnails/17.jpg)
Chromosome NumberChromosome Number
Different # for Different # for different speciesdifferent species
Full setFull set = = 2N=2N=DiploidDiploid
N=N= # pairs# pairs 1 pair from mother1 pair from mother 1 pair from father1 pair from father Humans= Humans= 23 pairs23 pairs or or 46 total46 total
Homologous Chromosomes are the sets of each pair
![Page 18: Pedigree Charts The family tree of genetics I II III](https://reader036.vdocuments.net/reader036/viewer/2022081506/56649e0c5503460f94af5923/html5/thumbnails/18.jpg)
Autosomes & Sex Autosomes & Sex ChromosomesChromosomes
Autosomes = # 1-22 for all traits except sex
Sex chromosomes= Pair # 23 XX(female) orXY(male)
![Page 19: Pedigree Charts The family tree of genetics I II III](https://reader036.vdocuments.net/reader036/viewer/2022081506/56649e0c5503460f94af5923/html5/thumbnails/19.jpg)
Down Syndrome= 3 of #21Down Syndrome= 3 of #21
![Page 20: Pedigree Charts The family tree of genetics I II III](https://reader036.vdocuments.net/reader036/viewer/2022081506/56649e0c5503460f94af5923/html5/thumbnails/20.jpg)
KlinefelterKlinefelter’’s = XXYs = XXY
![Page 21: Pedigree Charts The family tree of genetics I II III](https://reader036.vdocuments.net/reader036/viewer/2022081506/56649e0c5503460f94af5923/html5/thumbnails/21.jpg)
Multiple AllelesMultiple AllelesMore than More than one type one type of allele of allele for a traitfor a trait
Example:Example:
Blood TypeBlood Type
TYPES:TYPES:
A A IIAAIIAA, I, IAAii
B B IIBBIIB B , I, IBBii
AB AB IIAAIIBB
O O iiii
![Page 22: Pedigree Charts The family tree of genetics I II III](https://reader036.vdocuments.net/reader036/viewer/2022081506/56649e0c5503460f94af5923/html5/thumbnails/22.jpg)
MutationMutation ChangeChange in DNA in DNA
codecode Caused by:Caused by:
1.1. Chemical Chemical damagedamage
2.2. Errors in Errors in ReplicationReplication
3.3. X-ray damageX-ray damage
4.4. UV damageUV damage
ATGC
Ato A G C
![Page 23: Pedigree Charts The family tree of genetics I II III](https://reader036.vdocuments.net/reader036/viewer/2022081506/56649e0c5503460f94af5923/html5/thumbnails/23.jpg)
MutationMutationChanges in the Changes in the
DNA code DNA code = Changes in = Changes in
the final the final proteins madeproteins made
=Changes in =Changes in the organismthe organism
![Page 24: Pedigree Charts The family tree of genetics I II III](https://reader036.vdocuments.net/reader036/viewer/2022081506/56649e0c5503460f94af5923/html5/thumbnails/24.jpg)
Genetic Genetic TechnologyTechnology
Recombinant DNA &Recombinant DNA &Bacterial TransformationBacterial Transformation
![Page 25: Pedigree Charts The family tree of genetics I II III](https://reader036.vdocuments.net/reader036/viewer/2022081506/56649e0c5503460f94af5923/html5/thumbnails/25.jpg)
1. Transgenic tobacco plant?1. Transgenic tobacco plant?
Genetically Genetically engineeredengineered
Inserting fire Inserting fire fly genes fly genes into the into the plantplant
Using Using ““cut & cut & pastepaste”” enzymesenzymes
![Page 26: Pedigree Charts The family tree of genetics I II III](https://reader036.vdocuments.net/reader036/viewer/2022081506/56649e0c5503460f94af5923/html5/thumbnails/26.jpg)
2. Genetic Engineering:2. Genetic Engineering:
Altering the genetic makeup Altering the genetic makeup of an organismof an organism
By Cutting DNA from one By Cutting DNA from one organism and inserting organism and inserting fragments into a hostfragments into a host
Recombinant DNARecombinant DNAAlters the allele frequency of Alters the allele frequency of
a population by artificial a population by artificial meansmeans
![Page 27: Pedigree Charts The family tree of genetics I II III](https://reader036.vdocuments.net/reader036/viewer/2022081506/56649e0c5503460f94af5923/html5/thumbnails/27.jpg)
Recombinant DNA:Recombinant DNA:
““RecombineRecombine””Connecting or Connecting or
reconnecting DNA reconnecting DNA fragmentsfragments
DNA of two different DNA of two different organismsorganisms
Example: lab of inserting human DNA Example: lab of inserting human DNA into bacteriainto bacteria
![Page 28: Pedigree Charts The family tree of genetics I II III](https://reader036.vdocuments.net/reader036/viewer/2022081506/56649e0c5503460f94af5923/html5/thumbnails/28.jpg)
Genetic Engineering of InsulinGenetic Engineering of InsulinHuman DNA cut out
Human DNA put into bacteria DNA
Bacteria DNA is opened up Many BacteriaGrow humaninsulin
![Page 29: Pedigree Charts The family tree of genetics I II III](https://reader036.vdocuments.net/reader036/viewer/2022081506/56649e0c5503460f94af5923/html5/thumbnails/29.jpg)
4. Transgenic Organism:4. Transgenic Organism:““transtrans”” = across = across““genicgenic”” = race = raceContains genes from Contains genes from
another organismanother organismBacteriaBacteriaVirusVirusHumanHuman
![Page 30: Pedigree Charts The family tree of genetics I II III](https://reader036.vdocuments.net/reader036/viewer/2022081506/56649e0c5503460f94af5923/html5/thumbnails/30.jpg)
5. Tobacco Recombinant DNA 5. Tobacco Recombinant DNA Process:Process:
a.a. Isolated DNA to be Isolated DNA to be inserted into hostinserted into host
b.b. Attach DNA fragment to a Attach DNA fragment to a vehicle (vector)vehicle (vector)
c.c. Transfer the vector to the Transfer the vector to the host=host=
Transgenic organismsTransgenic organisms
![Page 31: Pedigree Charts The family tree of genetics I II III](https://reader036.vdocuments.net/reader036/viewer/2022081506/56649e0c5503460f94af5923/html5/thumbnails/31.jpg)
Restriction Enzymes:Restriction Enzymes:
Restriction Enzymes cut DNA at very specific sites Separate the base pairs of both strands“Scissors” in Recombinant DNA
Human Cut Bacterium DNA cut
![Page 32: Pedigree Charts The family tree of genetics I II III](https://reader036.vdocuments.net/reader036/viewer/2022081506/56649e0c5503460f94af5923/html5/thumbnails/32.jpg)
7. 7. ““Sticky endsSticky ends””DNA cuts that have DNA cuts that have singlesingle
stranded endsstranded endsAttract corresponding base Attract corresponding base
pairspairsMade by special restriction Made by special restriction
(cutting) enzymes(cutting) enzymes
GGCCATTACCCGC TACCGG
TAATGATGGCStick together
![Page 33: Pedigree Charts The family tree of genetics I II III](https://reader036.vdocuments.net/reader036/viewer/2022081506/56649e0c5503460f94af5923/html5/thumbnails/33.jpg)
Vectors = vehiclesVectors = vehiclesCarry foreign DNA Carry foreign DNA fragments into the hostfragments into the host
Bacteria carried the firefly Bacteria carried the firefly DNA into the tobacco cellsDNA into the tobacco cells
Biological orBiological orMechanicalMechanical
![Page 34: Pedigree Charts The family tree of genetics I II III](https://reader036.vdocuments.net/reader036/viewer/2022081506/56649e0c5503460f94af5923/html5/thumbnails/34.jpg)
Vectors:Vectors:
Biological:Biological:VirusVirusBacterial Bacterial plasmid plasmid (circular (circular DNA)DNA)
Mechanical:Mechanical:MicropipettMicropipettee
Metal bullet Metal bullet coated with coated with DNADNA
![Page 35: Pedigree Charts The family tree of genetics I II III](https://reader036.vdocuments.net/reader036/viewer/2022081506/56649e0c5503460f94af5923/html5/thumbnails/35.jpg)
Recombinant DNA Uses:Recombinant DNA Uses: Grow human Grow human
hormones in hormones in bacteria culturesbacteria cultures
Artificial Artificial sweeteners using sweeteners using bacteria to make bacteria to make amino acidsamino acids
Study human Study human diseases by diseases by inserting human inserting human DNA into miceDNA into mice
Replace incorrect Replace incorrect DNA sequencesDNA sequences
Replace harmful Replace harmful bacteria on bacteria on plantsplants
Nitrogen bacteria Nitrogen bacteria in the soil & in the soil & plants to make plants to make fertilizerfertilizer
Improve Improve transport of fruitstransport of fruits
Resist diseasesResist diseases Increase protein Increase protein
productionproduction