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    Pedigree Analysis

    Uploaded by

    Andreea Maria Manole
    pedigree

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    © All Rights Reserved
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    Pedigree Analysis

    Uploaded by

    Andreea Maria Manole
    134 views18 pages
    pedigree

    Copyright

    © © All Rights Reserved

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    pedigree

    Copyright:

    © All Rights Reserved
    Download as PPT, PDF, TXT or read online from Scribd
    Download as ppt, pdf, or txt
    134 views18 pages

    Pedigree Analysis

    Uploaded by

    Andreea Maria Manole
    pedigree

    Copyright:

    © All Rights Reserved
    Download as PPT, PDF, TXT or read online from Scribd
    Download as ppt, pdf, or txt
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    Pedigreeanalysis

    Analysisofinheritanceinhumanfamilies
    Averyimportanttoolforstudyinghumaninherited
    diseases
    Allowinferencesconcerninggenotypesinafamilyorpopulation
    Allowspredictionsconcerningphenotypesofoffspringinheritinga
    geneticdisease(geneticcounseling)
    Typicallysmallnumberofoffspring
    Mendelianratiosrarelyobserved
    thismeansthenormal3:1dominanttorecessiveratio
    doesntusuallyoccur.
    Mostcommonsymbolsusedincreating
    apedigree

    unaffected unaffected affected affected


    male female male female
    Othercommon
    signsandsymbols
    usedinpedigree
    analysis
    Samplepedigreecysticfibrosis
    male female

    affectedindividuals

    Theromannumeralsindicatethegeneration(I,IIorIII)and
    thenumbersshowbirthorderofchildren(1,2,3,4etc.)
    Basedonthesamepedigree,wecandetermineareasonableguess
    astowhatthegenotypesoftheparentsandoffspringare:
    Assumingthisisarecessivegene,
    weknowthatII3andIII4mustbe
    aa.
    Thereforebothparentsofthese
    offspringmusthavegivenana
    allele.
    So,I1,I2,II4andII5musteach
    haveoneaintheirgenotypes.
    SinceI1,I2,II4andII5dont
    havethedisease,theirotherallele
    mustbeA.
    Alltherestofthepeoplecouldbe
    eitherAAorAa.
    I1 I2

    II1 II3 II5


    II2 II4

    1. Whatarethegenotypesorpossiblegenotypesforeach
    individualinthisfamily?
    2. UsetheletterBtorepresentdominantallelesandbto
    representrecessivealleles.
    Categoriesofinheritance
    Autosomalmeansinheritedonchromosome122whilesex
    linkedmeansinheritedoneitherXorYchromosome.
    Autosomalrecessive
    e.g.,PKU,TaySachs,albinism
    Autosomaldominant
    e.g.,HuntingtonsDisease
    Xlinkedrecessive(meaningthisalleleisfoundononlytheX
    chromosome:canbeinmalesorfemales)
    e.g.,colorblindness,hemophilia
    Xlinkeddominant(meaningthisalleleisfoundonX
    chromosomes;canbeinmalesorfemales)
    e.g.,hypophosphatemia
    Ylinked(meaningthealleleisfoundontheYchromosome
    andcanonlybeinmales)
    Autosomalrecessivetraits

    Traitisrareinthepedigree

    Traitoftenskipsgenerations
    (hiddeninheterozygous
    carriers)

    Traitaffectsmalesand
    femalesequally

    Possiblediseasesinclude:
    Cysticfibrosis,Sicklecell
    anemia,Phenylketonuria
    (PKU),TaySachsdisease
    Autosomaldominantpedigrees

    Traitiscommoninthepedigree
    Traitisfoundineverygeneration
    Affectedindividualstransmitthetraittoabout1/2oftheir
    children(regardlessofsex)
    Autosomaldominanttraits

    Therearefewautosomal
    dominanthuman
    diseases(why?),but
    someraretraitshavethis
    inheritancepattern
    Forexample:
    achondroplasia(a
    sketelaldisordercausing
    dwarfism)
    Huntingtonsdisease:anexampleofADdisorder
    - Half the people in the
    Venezuelan village of
    Barranquitas are
    affected
    - A large-scale pedigree
    analysis was conducted
    including 10,000 people
    - Example for one
    particular family:
    Xlinkedrecessivepedigrees

    Traitisrareinpedigree
    Traitskipsgenerations
    AffectedfathersDONOT
    passtotheirsons
    Malesaremoreoftenaffected
    thanfemales
    Femalesarecarriers(passed
    frommomtoson)
    Hemophilia:anexampleofXlinkedrecessive
    disorder
    Xlinkedrecessivetraits
    ex.HemophiliainEuropeanroyalty
    Xlinkedrecessivetraits

    ex.Glucose6PhosphateDehydrogenasedeficiency
    hemolyticdisordercausesjaundiceininfantsand(oftenfatal)
    sensitivitytofavabeansinadults

    themostcommonenzymedisorder
    worldwide,especiallyinthoseof
    Mediterraneanancestry
    maygivetheindividualresistanceto
    malaria
    Xlinkeddominantpedigrees

    Traitiscommoninpedigree
    AffectedfatherspasstoALLoftheirdaughters
    Malesandfemalesareequallylikelytobeaffected
    Xlinkeddominantdiseases

    Xlinkeddominantdiseasesareextremelyunusual
    Often,theyarelethal(beforebirth)inmalesandonlyseenin
    females
    ex.incontinentiapigmenti(skinlesions)
    ex.Xlinkedrickets(bonelesions)
    PedigreeAnalysisinreallife

    Remember:
    dominanttraitsmayberareinapopulation
    recessivetraitsmaybecommoninapopulation
    allelesmaycomeintothepedigreefrom2sources
    mutationhappens
    oftentraitsaremorecomplex
    affectedbyenvironment&othergenes

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