A2 Genetics Unit F215 Genetics

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    A2 Unit F215: Module 1

    Control, genomes and environment

    Module 1 Cellular control

    Genetics

    Gregor Mendel the Austrian monk who irst investigated genetics o !lant "reeding#

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    A2 Unit F215: Module 1Control, genomes and environment

    Module 1 Genetics

    $o!ic Tick when

    done

    %a& '(!lain the termsgenot)!e, !henot)!e, dominant, recessive,

    codominance and linkage#

    %"& Use genetic diagrams to solve !ro"lems involving se(*linkage#

    %c& Use genetic diagrams to solve !ro"lems involving codominance

    %d& +escri"e the interactions "etween loci %e!istasis&

    %e& redict !henot)!ic ratios in !ro"lems involving e!istasis#

    %& Use !redicted !henot)!ic ratios to solve !ro"lems involving e!istasis#

    %g& Use the chi*s-uared test to test the signiicance o the dierence

    "etween o"served and e(!ected results#

    %h& +escri"e the dierences "etween discontinuous and continuous

    variation#

    %i& '(!lain the "asis o continuous and discontinuous variation with

    reerence to the num"er o genes that inluence the variation#

    %.& '(!lain that "oth genot)!e and environment contri"ute to

    !henot)!ic variation and wh) variation is essential in selection#

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    G'/'$0C $'M0/3G4

    GENE a length o 6666 that codes or the !roduction o a

    66666666666 molecule#

    GENETIC CODE

    ALLELES dierent formso one gene, e#g777777

    LOCUS the positiono a gene on a 666666666666666 and on its

    homologous !artner#

    GENOTYPE the 2 alleles which an organism !ossesses or a !articulargene, e#g# GG, Gg or gg# %From whom did the organism inherit each one8&

    PENOTYPE the e!pressiono the "enot#pee#g# a !erson either has

    c)stic i"rosis or not#

    DO$INANT onl) oneo this allele needs to "e !resent or the allele

    to "e 66666666666666 in the !666666666#

    %ECESSI&E twoo these alleles need to "e !resent or7777##

    CODO$INANCE 'oth ())e)es (re e*+())# e!pressed in the

    ,,,,,,,,,, of ( hetero-#"ote.

    So 'oth C % /red pi"ment0 (nd

    C1

    /white pi"ment0 (re e!pressed if to"ether in( "enot#pe. The phenot#pe wi)) therefore 'e222..

    LIN3AGE 4 5 or more "enes (re )oc(ted /)inked0 on the s(me

    chromosome.

    A 6

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    Matching airs

    1# Gene A $he !osition o a gene on a chromosome#

    2# Allele 9 'ach three "ases code or one amino acidand thereore the !rimar) structure#

    # Genot)!e C ne orm o a gene#

    ;# henot)!e + $his allele is e(!ressed even i onl) one is

    !resent in the genot)!e#

    5# 3ocus ' $wo identical alleles make u! the genot)!e#

    # +ominant ? $he 2 alleles or one gene ound on a

    homologous !air o chromosomes#

    @# ecessive 0 $he e(!ression o the genot)!e#

    1# ?eteroB)gous 9oth alleles in the genot)!e are ull)

    e(!ressed#

    11# ?omoB)gous D $he genot)!e must onl) contain these

    alleles i the) are to "e e(!ressed#

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    Gregor MendelEs Monoh)"rid Crosses

    MendelEs theories were diicult to acce!t ") a scientiic communit) who

    knew nothing o chromosomes, genes and +/A, "ack in the latter hal o the

    nineteenth centur)# $oda), however, the) can "e ull) e(!lained, i lettersare used to re!resent the alleles which code or the characteristics#

    e#g# 0nvestigating $allness and dwarness in !ea !lants#

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    $onoh#'rid crosses contin+ed alwa)s draw a genetic diagram

    emem"er $wo homoB)gous !ure*"red !arents !roduce heteroB)gous F1

    os!ring and mem"ers o the F1 crossed with each other !roduce anF2

    generation#

    1# ?untington Es chorea is a atal condition o the nervous s)stem caused ") a

    dominant allele# Most suerers do not show s)m!toms until over the age o

    5# A man with the disease marries and has children in his late 2s# hat is

    the !ro"a"ilit) that one o his children will have inherited the condition8

    2# A dog "reeder has a +almatian "itch with "lack s!ots# 9lack allele is

    dominant over "rown# ?e mated the "itch with a "rown s!otted dog and

    she had three "lack and one "rown s!otted !u!!ies# hat was her

    genot)!e8

    # An F1 generation o geraniums all had red lowers# $he F2 included somewith white lowers#

    i& +raw a genetic diagram to show how this was !ossi"le#

    ii& hat ratio o red: white would "e e(!ected in the F28

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    Using genetic diagrams to solve codominance !ro"lems %!age 12

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    2# A "udgie ancier "red homoB)gous dark "lue with homoB)gous light "lue

    "irds and o"tained all mid*"lue os!ring#

    ?e needed more mid*"lue, so "red the F1together# '(!lain with a

    genetic diagram whether he did the "est thing to !roduce ma(imum

    num"ers o mid*"lue#

    /ow answer the -uestions 1 and 2 on !age 12=

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    ickle cell Anaemia codominant at the cellular level %age 12

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    Se! 4 )ink("e

    e( in mammals is inherited via a large I and a small 4 chromosome# $here is

    little room on the 4 or an) genes other than that or "eing male# 4 however

    is dominant to I, so onl) one 4 is needed to "e male# ?owever, linked to the I

    are man) genes vital or successul lie# 0 mutations occur to an) o thesegenes then these mutations are carried through to the ne(t generation on

    the I chromosome#

    $he e(am!le a"ove is the inheritance o haemo!hilia, a condition that

    !revents normal "lood clotting# ? is the allele or health) clotting actors,

    "ut h codes or the mutation see !ower !oint and !age 12;J125 in the te(t

    "ook# Answer -uestions 1, 2 and !age 125#

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    Further Kuestions

    1# '(!lain wh) a man with haemo!hilia can not !ass it on to his son#

    2# $he amil) tree shows the occurrence o a genetic condition called

    "rach)dact)l) %short ingers Use the tree to deduce:

    a& whether the allele is dominant or recessive

    "& i the condition is se( linked#

    '(!lain )our answers

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    # ne o the genes or coat colour in cats is ound on the I chromosome, "ut

    not the 4# $he allele Cgives orange ur, while C9gives "lack# $he two alleles

    are codominant, and when "oth are !resent the cat has !atches o orange and

    "lack known as tortoiseshell#

    a& '(!lain wh) male cats can not "e tortoiseshell#

    "& +raw a genetic diagram to show the e(!ected genot)!es and !henot)!es o

    the os!ring rom a cross "etween an orange male and a tortoiseshell emale

    cat#

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    Autosomal linkage %!age 12&

    $wo genes "oth on the same chromosome tend to "e inherited together and

    are thereore said to "e )inked# $he) usuall) do not show inde!endent

    assortment at meta!hase 1 or 2#An e(am!le in humans is the inheritance o the gene locus or A9 "lood

    grou!s and the gene locus or nail !atella s)ndrome %/& which causes short

    nails and !oorl) ormed knee "ones#

    $he loci are ver) close together on the chromosomes as seen in the diagram#

    $he ollowing would thereore "e e(!ected to result when "lood grou! and

    the s)ndrome are inherited together#

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    hat still might rarel) ha!!en during !ro!hase 1, which ma) allow

    inde!endent assortment o these alleles8

    A worked e(am!le is on !age 12#

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    Epist(sis how one gene ma) control the e(!ression o another#

    age 12> ke) deinition L

    +oes e!istasis reduce or increase !henot)!ic variation8

    Kuite oten two or more dierent genes aect the same !henot)!e

    %characteristic

    ?ere is an e(am!le where one gene com!lements another the) work

    together#

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    orking antagonisticall) %against one another&

    $he homoB)gous !resence o a recessive allele %e!istatic allele& ma) !revent

    the e(!ression o another allele at a second locus %h)!ostatic allele

    /ote the e(am!le o recessive e!istasis as seen in the lower colour o

    Galvia#

    Another e(am!le is human e)e colour where a gene or "rown melanin !roduction is

    re-uired "eore genes or how man) la)ers o melanin are to "e laid down can "e

    e(!ressed#

    /ow note an e(am!le o dominant e!istasis#

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    /ote and learn the three t)!ical e!istatic ratios and answer -uestions 1 ;,

    !age 12@#

    /ow careull) read !age 12 a"out inheritance o com"s in domestic chickens

    and coat colour in mice and then answer the -uestions 1 = %!age 1& in )our

    own notes#

    Finall) on this to!ic, tr) the stretch and challenge A, 9 and C -uestions#

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    Contin+o+s (nd Discontin+o+s &(ri(tion %!age 1

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    Genot#pe (nd En:ironment contri'+te to the Phenot#pe

    /ow answer -uestion

    1 on !age 1=

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    Can )ou think o an) o"vious e(am!les and are the) discontinuous or

    continuous e(am!les8 Give detail#

    Man) o the traits re-uired in agriculture are !ol)genic so the stud) o this

    t)!e o genetics is ver) useul or !lant and arm animal "reeders#

    ee !ower !oint e(am!les and answer -uestions 1 !age 1=#

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