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Pedigree ChartsPedigree ChartsThe family tree of geneticsThe family tree of genetics
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Pedigree ChartsPedigree Charts
I
II
III
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OverviewOverview
I.I. What is a pedigree?What is a pedigree?
a.a. DefinitionDefinition
b.b. UsesUses
II.II. Constructing a pedigreeConstructing a pedigree
a.a. SymbolsSymbols
b.b. Connecting the symbolsConnecting the symbols
III.III. Interpreting a pedigreeInterpreting a pedigree
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Constructing a PedigreeConstructing a Pedigree
MaleMale
FemaleFemale
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Connecting Pedigree SymbolsConnecting Pedigree Symbols
Fraternal twinsFraternal twins
Identical twinsIdentical twins
Examples of connected symbols:Examples of connected symbols:
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nterpreting a Pedigree Chartnterpreting a Pedigree Chart
&.&. %etermine if the pedigree chart shows an%etermine if the pedigree chart shows an
autosomal or #$linked disease.autosomal or #$linked disease.
' If most of the males in the pedigree areIf most of the males in the pedigree are
affected the disorder is #$linkedaffected the disorder is #$linked
' If it is a ()*() ratio between men andIf it is a ()*() ratio between men and
women the disorder is autosomal.women the disorder is autosomal.
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!nswer !nswer
AutosomalAutosomal
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nterpreting a Pedigree Chartnterpreting a Pedigree Chart
+.+. %etermine whether the disorder is%etermine whether the disorder isdominant or recessive.dominant or recessive.
' If the disorder is dominant, one ofIf the disorder is dominant, one of
the parents must have the disorder.the parents must have the disorder.
' If the disorder is recessive, neitherIf the disorder is recessive, neither
parent has to have the disorderparent has to have the disorder
because they can be heterozygous.because they can be heterozygous.
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Example of Pedigree ChartsExample of Pedigree Charts
%ominant or -ecessive"%ominant or -ecessive"
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!nswer !nswer
%ominant%ominant
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Example of Pedigree ChartsExample of Pedigree Charts
%ominant or -ecessive"%ominant or -ecessive"
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!nswer !nswer
-ecessive-ecessive
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SummarySummary
edigrees are family trees that e/plainedigrees are family trees that e/plain
your genetic history.your genetic history.
edigrees are used to find out theedigrees are used to find out the
probability of a child having a disorderprobability of a child having a disorder
in a particular family.in a particular family.
To begin to interpret a pedigree,To begin to interpret a pedigree,
determine if the disease or condition isdetermine if the disease or condition isautosomal or #$linked and dominant orautosomal or #$linked and dominant or
recessive.recessive.
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Pedigree Chart "Cystic #ibrosisPedigree Chart "Cystic #ibrosis
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&aryotype&aryotype
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Chromosome Number Chromosome Number
%ifferent 0 for%ifferent 0 fordifferent speciesdifferent species
Full setFull set 11
+21+21DiploidDiploid
N=N= pairs pairs & pair from mother& pair from mother
& pair from father& pair from father
3umans13umans1 !" pairs!" pairs oror
45 total45 total
HomologousChromosomes
are the sets of
each pair
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!utosomes ' Sex !utosomes ' Sex
ChromosomesChromosomesAutosomes = # 1-
22 for all traitsexcept sex
Sex chromosomes=Pair # 23 XX(female) or
XY(male)
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(own Syndrome) * of +,-(own Syndrome) * of +,-
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&linefelter &linefelter .s ) //0.s ) //0
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1utation1utation ChangeChange in DN+in DN+codecode Caused by&Caused by&
.. ChemicalChemical
damagedamage
!.!.
$rrors in$rrors in/eplication/eplication
".". 01ray damage01ray damage
2.2. U3 damageU3 damage
A
T
GC
Ato A
G C
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1utation1utationChanges in theChanges in the
DN+ codeDN+ code= Changes in= Changes in
the finalthe finalproteins madeproteins made
=Changes in=Changes inthe organismthe organism
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-3 2ransgenic tobacco plant?-3 2ransgenic tobacco plant?
4enetically4enetically
engineeredengineered
Inserting fireInserting firefly genes intofly genes into
the plantthe plant
UsingUsing 5cut 65cut 6paste7paste7
en8ymesen8ymes
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4ecombinant (5!:4ecombinant (5!:
55/ecombine7/ecombine7
Connecting orConnecting orreconnecting DN+reconnecting DN+
fragmentsfragments
DN+ of t9o differentDN+ of t9o different
organismsorganisms 9/ample: lab of inserting human %2A into9/ample: lab of inserting human %2A into
bacteriabacteria
% ti E i i f li% ti E i i f li
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%enetic Engineering of nsulin%enetic Engineering of nsulin
Human DNA cut out
Human DNA put
into bacteria DNA
Bacteria DNA is opened upMany Bacteria
Grow human
insulin
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63 2ransgenic Organism:63 2ransgenic Organism:
55trans7 = acrosstrans7 = across
55genic7 = racegenic7 = raceContains genes fromContains genes from
another organismanother organism'acteria'acteria3irus3irus
:uman:uman
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73 2obacco 4ecombinant (5!73 2obacco 4ecombinant (5!
Process:Process:
a.a. Isolated %2A to beIsolated %2A to be
inserted into hostinserted into host
b.b. Attach %2A fragment to aAttach %2A fragment to avehicle ;vector
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4estriction En8ymes:4estriction En8ymes:
Restriction Enzymes cut DNA at
very specific sites
Separate the base pairs of bothstrands
“Scissors” in Recombinant DNA
Human CutBacterium
DNA cut
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9393 Stic;y ends
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=ectors ) vehicles=ectors ) vehiclesCarry foreign DN+Carry foreign DN+fragments into the hostfragments into the host
7acteria carried the firefly7acteria carried the firefly%2A into the tobacco cells%2A into the tobacco cells
'iological or'iological or
#echanical#echanical
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=ectors:=ectors:
'iological&'iological&3irus3irus'acterial'acterialplasmidplasmid
;circular;circularDN+
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4ecombinant (5! >ses:4ecombinant (5! >ses: =row human=row human
hormones inhormones inbacteria culturesbacteria cultures
ArtificialArtificial
sweeteners usingsweeteners using
bacteria to makebacteria to make
amino acidsamino acids
Study humanStudy human
diseases bydiseases byinserting humaninserting human
%2A into mice%2A into mice
-eplace incorrect-eplace incorrect
%2A%2A
/eplace harmful/eplace harmful
bacteria on plantsbacteria on plants Nitrogen bacteriaNitrogen bacteria
in the soil 6in the soil 6
plants to maeplants to mae
fertili8erfertili8er Impro>e transportImpro>e transport
of fruitsof fruits
/esist diseases/esist diseases
Increase proteinIncrease protein
productionproduction