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HEREDITY:
INHERITANCE AND
VARIATION
BY: HONORIO MANAYAO
REPLICATION
 In1953,JamesWatsonandFrancisCrickworkedoutthatDNA
isdoublehelixlikeatwistedstaircase.Thetwosugar
phosphatebackbonesmakefthesidesandbasepairsmakeup
therungsorstepofthetwistedpair.
 ThemakingcopiesofDNAcalledREPLICATION.
 WhenDNAreplicates,twoidenticalcopiesofDNAmolecules
areproducedandareexactlythesameasoriginal.
CENTRAL DOGMA
InDNAAdeninealwaysbondwithThymine,and
CystosinebondswithGuanine.
InDNAAdeninebondswithUracilandCystosine
andCystosinebondswithGuanine.
 Traitsareobservablecharacteristicsdeterminedbyspecific
segmentsofDNAcalledGENES.TheDNA(deoxyribonucleic
acid)isadoublehelixmolecule,thethinstrandsofwhichare
twistedaroundeachotherlikeatwistedladder.Thesidesof
theladderaremadeupofsugarandphosphatemoleculesand
thestepsoftheladderaremadeofnitrogenbasepairs.
TYPES OF RNA
 One type of RNA, messenger RNA (mRNA) brings
information from the DNA in the nucleus to the
protein manufacturing area, the cytoplasm. In the
cytoplasm , the mRNA becomes the template of
information to make proteins.
 Ribosomes, made of ribosomal RNA (rRNA), and
ribosomal proteins hold tightly into the mRNA using
its information to assemble the amino acids in
correct order.
 Transfer RNA (tRNA) supplies amino acids to the
ribosome to be assembled as protein.
TRANSCRIPTION
TRANSLATION
BymeansoftransferRNAmolecules,eachspecificforone
aminoacidandforaparticulartripletofnucleotidesin
messengerRNA(mRNA)calledacodon.ThefamilyoftRNA
moleculesenablesthecodonsinamRNAmoleculeto
betranslatedintothesequenceofaminoacidsintheprotein.
Theprocessofconvertingtheinformationinmessenger
RNAintoasequenceofaminoacidsthatmakeprotein
isknownasTranslation.
TheroleoftransferRNA(tRNA)istobringamino
acidsintocytoplasmtotheribosomestomake
proteins.
MUTATION
 Achromosomeabnormality,disorder,anomaly,aberration,ormutationisa
missing,extra,orirregularportionofchromosomalDNA.Itcanbefroman
atypicalnumberofchromosomesorastructuralabnormalityinoneor
morechromosomes.
 AmutationinvolvingalongsegmentofDNA.Thesemutationscaninvolve
deletions,insertions,orinversionsofsectionsofDNA.Insomecases,deleted
sectionsmayattachtootherchromosomes,disruptingboth
thechromosomesthatlosestheDNAandtheonethatgainsit.Alsoreferredto
asachromosomalrearrangement.
TRANSLOCATION
DELETION
INVERSION
 During pregnancy, an error in mitosis can occur, just like
the error previously described in meiosis. If
the chromosomes do not split into equal halves, the new
cells can have an extra chromosome (47 total) or have a
missing chromosome(45 total). This is another way a
baby can be born with a chromosome abnormality.
CHROMOSOME
ABNORMALITIES
CRI DU CHAT SYDROME
Criduchatsyndrome,alsoknownaschromosome5p
deletionsyndrome,5p−syndrome(pronounced"FiveP
Minus")orLejeune'ssyndrome,isararegeneticdisorderdue
tochromosomedeletiononchromosome5.
Itisararegeneticdisorderduetochromosomedeletion
onchromosome5.[1] ItsnameisaFrenchterm(cat-cryorcall
ofthecat)referringtothecharacteristiccat-likecryof
affectedchildren.
DOWN’S SYNDROME
Downsyndrome(DSorDNS),alsoknownastrisomy21,isa
geneticdisordercausedbythepresenceofallorpartofa
thirdcopyofchromosome21.Itistypicallyassociatedwith
physicalgrowthdelays,characteristicfacialfeaturesandmild
tomoderateintellectualdisability.
EDWARD’S SYNDROME
EdwardsSyndrome(alsoknownasTrisomy18(T18)or
TrisomyE)isageneticdisordercausedbythepresenceofall
orpartofanextra18thchromosome.Themajorityofpeople
withthesyndromedieduringthefetalstage;infantswho
surviveexperienceseriousdefectsandcommonlylivefor
shortperiodsoftime.Otherfeaturesincludeasmallhead,
smalljaw,clenchedfistswithoverlappingfingers,and
severeintellectualdisability.
JACOBSEN SYNDROME
Jacobsensyndromeisaconditioncausedbyalossofgenetic
materialfromchromosome11.Becausethisdeletionoccursat
theend(terminus)ofthelong(q)armofchromosome11,
Jacobsensyndromeisalsoknownas11q
terminaldeletiondisorder.Thesignsandsymptomsof
Jacobsensyndromevaryconsiderably. Researchshowsthat
almost88.5%ofpeoplewithJacobsenSyndromehavea
bleedingdisordercalledParis-Trousseausyndrome.
KLINEFELTER’S SYNDROME
 Klinefeltersyndromeisageneticdisorderthataffects
males.Klinefeltersyndromeoccurswhenaboyisbornwithoneor
moreextraXchromosomes.MostmaleshaveoneYandoneX
chromosome.HavingextraXchromosomescancauseamaleto
havesomephysicaltraitsunusualformales.
 Intelligenceisusuallynormal;however,readingdifficultiesandproblems
withspeecharemorecommon.[1] Symptomsaretypicallymoresevereif
threeormoreXchromosomesarepresent.
TURNER’S SYDROME
TurnersyndromeresultswhenonenormalXchromosomeis
presentinafemale'scellsandtheothersexchromosomeis
missingorstructurallyaltered.Themissinggeneticmaterial
affectsdevelopmentbeforeandafterbirth.
Often,ashortandwebbedneck,low-setears,lowhairlineat
thebackoftheneck,shortstature,andswollenhandsand
feetareseenatbirth.
HUMAN
KARYOTYPING
 Akaryotypeisthenumberandappearanceofchromosomesin
thenucleusofaeukaryoticcell.Thetermisalsousedforthe
completesetofchromosomesinaspeciesorinanindividual
organism[1][2][3] andforatestthatdetectsthiscomplementor
measuresthenumber.
GENETIC
ENGINEERING
 Geneticengineering,alsocalledgeneticmodification,isthedirect
manipulationofanorganism'sgenesusingbiotechnology.Itisaset
oftechnologiesusedtochangethegeneticmakeupofcells,includingthe
transferofgeneswithinandacrossspeciesboundariestoproduceimproved
ornovelorganisms.NewDNAisobtainedbyeitherisolatingandcopyingthe
geneticmaterialofinterestusingrecombinantDNAmethodsor
byartificiallysynthesisingtheDNA.Aconstructisusuallycreatedandused
toinsertthisDNAintothehostorganism.ThefirstrecombinantDNA
moleculewasmadebyPaulBergin1972bycombiningDNAfromthe
monkeyvirusSV40withthelambdavirus.Aswellasinsertinggenes,the
processcanbeusedtoremove,or"knockout",genes.ThenewDNAcanbe
insertedrandomly,ortargetedtoaspecificpartofthegenome.
KEY CONCEPTS
 A mutation is a change in the base sequence of DNA.
Mutations may affect only one gene, or they may
affect whole chromosomes.
 Mutation in body cells affect only the individual and
are not passed on to the offspring.
THAT’S ALL!!
THANK YOU!!

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