Topic 4: Genetics (15 hours)

4.1Chromosomes, genes, alleles and mutations

2 hours
Assessment statement O! Teacher"s notes
4.1.1 State that eukaryote chromosomes are
made of DNA and proteins.
1 The names of the proteins (histones) are not
required, nor is the structural relationship
et!een DNA and the proteins.
4.1." Define gene, allele and genome. 1
#ene$ a heritale factor that controls a specific
characteristic. (The differences et!een
structural %enes, re%ulator %enes and %enes
codin% for t&NA and r&NA are not e'pected at
S().
Allele$ one specific form of a %ene, differin%
from other alleles y one or a fe! ases only
and occupyin% the same %ene locus as other
alleles of the %ene.
#enome$ the !hole of the %enetic information
of an or%anism.
4.1.) Define gene mutation. 1 The terms point mutation or frameshift
mutation !ill not e used.
4.1.4 *'plain the consequence of a ase
sustitution mutation in relation to the
processes of transcription and
translation, usin% the e'ample of sickle+
cell anemia.
)
#A# has mutated to #T# causin% %lutamic
acid to e replaced y ,aline, and hence
sickle+cell anemia.
Aim #: There is a ,ariety of social issues
associated !ith sickle+cell anemia, includin%
the sufferin% due to anemia, personal feelin%s
if one has either inherited or passed on the
sickle+cell allele, questions relatin% to the
desiraility of %enetic screenin% for the sickle+
cell allele efore ha,in% children, and the
%enetic counsellin% of carriers of the allele.
There are also ethical issues relatin% to
screenin% of fetuses and aortion of those
found to ha,e a %enetic disease.
TO$: -here a correlation is found, a causal
link may or may not e present. The frequency
of the sickle+cell allele is correlated !ith the
pre,alence of malaria in many parts of the
!orld. .n this case, there is a clear causal link.
/ther cases !here there is no causal link
could e descried as a contrast.
There has clearly een natural selection in
fa,our of the sickle+cell allele in malarial areas,
despite it causin% se,ere anemia in the
homo0y%ous condition. Natural selection has
led to particular frequencies of the sickle+cell
and the normal hemo%loin alleles, to alance
the t!in risks of anemia and malaria.
4.2%eiosis
& hours
Assessment statement O! Teacher"s notes
4.".1 State that meiosis is a reduction di,ision
of a diploid nucleus to form haploid
nuclei.
1
4."." Define homologous chromosomes. 1
4.".) /utline the process of meiosis, includin%
pairin% of homolo%ous chromosomes and
crossin% o,er, follo!ed y t!o di,isions,
!hich results in four haploid cells.
" (imit crossin% o,er to the e'chan%e of %enetic
material et!een non+sister chromatids durin%
prophase .. Names of the sta%es are required.
4.".4 *'plain that non+dis1unction can lead to
chan%es in chromosome numer,
illustrated y reference to Do!n
syndrome (trisomy "1).
)
The characteristics of Do!n syndrome are not
required.
4.".2 State that, in karyotypin%, chromosomes
are arran%ed in pairs accordin% to their
si0e and structure.
1
4.".3 State that karyotypin% is performed usin%
cells collected y chorionic ,illus
samplin% or amniocentesis, for pre+natal
dia%nosis of chromosome anormalities.
1 Aim #: There are ethical and social issues
associated !ith karyotypin% of unorn fetuses
ecause this procedure allo!s parents to aort
fetuses !ith a chromosome anormality. There
is also e,idence that, in some parts of the
!orld, aortion on the asis of %ender is
carried out.
TO$: 4arious questions relatin% to karyotypin%
could e raised, includin% alancin% the risks
of side+effects (for e'ample, miscarria%e)
a%ainst the possiility of identifyin% and
aortin% a fetus !ith an anormality. There are
questions aout decision+makin%$ !ho should
make the decision aout !hether to perform
karyotypin% and allo! a susequent aortion5
parents or health+care professionals or oth
%roups6 There are also questions aout
!hether or not national %o,ernments should
interfere !ith personal freedoms, and !hether
or not they should e ale to an procedures
!ithin the country and possily also an
citi0ens tra,ellin% to forei%n countries !here
the procedures are permitted.
4.".7 Analyse a human karyotype to determine
%ender and !hether non+dis1unction has
occurred.
)
8aryotypin% can e done y usin% enlar%ed
photo%raphs of chromosomes.
Aim ': /nline simulations of karyotypin%
acti,ities are a,ailale.
4.&Theoretical genetics
5 hours
Assessment statement O! Teacher"s notes
4.).1 Define genotype, phenotype, dominant
allele, recessive allele, codominant
alleles, locus, homozygous,
heterozygous, carrier and test cross.
1 #enotype$ the alleles of an or%anism.
9henotype$ the characteristics of an or%anism.
Dominant allele$ an allele that has the same
effect on the phenotype !hether it is present in
the homo0y%ous or hetero0y%ous state.
&ecessi,e allele$ an allele that only has an
effect on the phenotype !hen present in the
homo0y%ous state.
:odominant alleles$ pairs of alleles that oth
affect the phenotype !hen present in a
hetero0y%ote. (The terms incomplete and
partial dominance are no lon%er used.)
(ocus$ the particular position on homolo%ous
chromosomes of a %ene.
;omo0y%ous$ ha,in% t!o identical alleles of a
%ene.
;etero0y%ous$ ha,in% t!o different alleles of a
%ene.
:arrier$ an indi,idual that has one copy of a
recessi,e allele that causes a %enetic disease
in indi,iduals that are homo0y%ous for this
allele.
Test cross$ testin% a suspected hetero0y%ote
y crossin% it !ith a kno!n homo0y%ous
recessi,e. (The term ackcross is no lon%er
used.)
4.)." Determine the %enotypes and
phenotypes of the offsprin% of a
monohyrid cross usin% a 9unnett %rid.
)
The %rid should e laelled to include parental
%enotypes, %ametes, and oth offsprin%
%enotype and phenotype.
Aim ': #enetics simulation soft!are is
a,ailale.
4.).) State that some %enes ha,e more than
t!o alleles (multiple alleles).
1
4.).4 Descrie A</ lood %roups as an
e'ample of codominance and multiple
alleles.
"
4.).2 *'plain ho! the se' chromosomes
control %ender y referrin% to the
inheritance of = and > chromosomes in
humans.
)
4.).3 State that some %enes are present on the
= chromosome and asent from the
shorter > chromosome in humans.
1
4.).7 Define sex linkage. 1
4.).? Descrie the inheritance of colour
lindness and hemophilia as e'amples of
se' linka%e.
"
<oth colour lindness and hemophilia are
produced y a recessi,e se'+linked allele on
the = chromosome. =

and =
h
is the notation
for the alleles concerned. The correspondin%
dominant alleles are =
<
and =
;
.
4.).@ State that a human female can e
homo0y%ous or hetero0y%ous !ith
respect to se'+linked %enes.
1
4.).1A *'plain that female carriers are
hetero0y%ous for =+linked recessi,e
alleles.
)
4.).11 9redict the %enotypic and phenotypic
ratios of offsprin% of monohyrid crosses
in,ol,in% any of the ao,e patterns of
inheritance.
) Aim #: Statisticians are con,inced that
BendelCs results are too close to e'act ratios
to e %enuine. -e shall ne,er kno! ho! this
came aout, ut it offers an opportunity to
discuss the need for scientists to e truthful
aout their results, !hether it is ri%ht to discard
results that do not fit a theory as (ouis 9asteur
is kno!n to ha,e done, and the dan%er of
pulishin% results only !hen they sho!
statistically si%nificant differences.
TO$: &easons for BendelCs theories not ein%
accepted y the scientific community for a lon%
time could e considered. /ther cases of
paradi%m shifts takin% a lon% time to e
accepted could e considered. -ays in !hich
indi,idual scientists are most likely to e ale
to con,ince the scientific community could e
considered, and also the need al!ays to
consider the e,idence rather than the ,ie!s of
indi,idual scientists, ho!e,er distin%uished.
4.).1" Deduce the %enotypes and phenotypes
of indi,iduals in pedi%ree charts.
)
Dor dominant and recessi,e alleles, upper+
case and lo!er+case letters, respecti,ely,
should e used. (etters representin% alleles
should e chosen !ith care to a,oid confusion
et!een upper and lo!er case.
Dor codominance, the main letter should relate
to the %ene and the suffi' to the allele, oth
upper case. Dor e'ample, red and !hite
codominant flo!er colours should e
represented as :
&
and :
!
, respecti,ely. Dor
sickle+cell anemia, ;
A
is normal and ;
s
is
sickle cell.
Aim #: There are many social issues in
families in !hich there is a %enetic disease,
includin% decisions for carriers aout !hether
to ha,e children, personal feelin%s for those
!ho ha,e inherited or passed on alleles for the
disease, and potential prolems in findin%
partners, employment and health or life
insurance. There are ethical questions aout
!hether personal details aout %enes should
e disclosed to insurance companies or
employers. Decisions may ha,e to e made
aout !hether or not to ha,e screenin%. These
are particularly acute in the case of ;untin%ton
disease.
4.4Genetic engineering and iotechnolog(
5 hours
Assessment statement O! Teacher"s notes
4.4.1 /utline the use of polymerase chain
reaction (9:&) to copy and amplify
minute quantities of DNA.
"
Details of methods are not required.
4.4." State that, in %el electrophoresis,
fra%ments of DNA mo,e in an electric
field and are separated accordin% to their
si0e.
1
4.4.) State that %el electrophoresis of DNA is
used in DNA profilin%.
1
4.4.4 Descrie the application of DNA profilin%
to determine paternity and also in
forensic in,esti%ations.
"
Aim #: There is a ,ariety of social implications
stemmin% from DNA profilin%, such as identity
issues for a child !ho learns une'pectedly
!ho his or her iolo%ical father is, self+esteem
prolems for someone !ho learns he is not a
father, prolems in relationships !here the
male partner learns that he did not father a
child, ut also relief for crime ,ictims !hen
those responsile for the crime are identified
and con,icted, sometimes decades later.
TO$: A comparison could e made et!een
lood %roups and DNA profiles in their
potential for determinin% paternity. The
difficulty in assessin% the chance of t!o
indi,iduals ha,in% the same profile could e
discussed, and also the success of DNA
profilin% in securin% con,ictions in some of the
hi%h+profile le%al cases of recent years.
4.4.2 Analyse DNA profiles to dra!
conclusions aout paternity or forensic
in,esti%ations.
) The outcomes of this analysis could include
kno!led%e of the numer of human %enes, the
location of specific %enes, disco,ery of
proteins and their functions, and e,olutionary
relationships.
Aim ': /nline ioinformatics simulations are
a,ailale.
Aim #: -e can either emphasi0e the lar%e
shared content of the human %enome, !hich is
common to all of us and should %i,e us a
sense of unity, or !e can emphasi0e the small
ut si%nificant allelic differences that create the
iodi,ersity !ithin our species, !hich should
e treasured. Differences in the success of
human races in copin% !ith the modern !orld
and the threat to some small human tries
could e mentioned. .t is important to stress
parity of esteem of all humans, !hate,er their
%enome.
TO$: The ;uman #enome 9ro1ect !as an
international endea,our, !ith laoratories
throu%hout the !orld collaoratin%. ;o!e,er,
there !ere also efforts in some parts of the
!orld to %ain commercial enefits from the
outcomes of the pro1ect.
The data from the ;uman #enome 9ro1ect can
e ,ie!ed in different !ays$ it could e seen
as a complete account of !hat makes up a
human, if one takes a reductionist ,ie! of life,
or, alternati,ely, as merely the chemical
instructions that ha,e allo!ed a hu%e ran%e of
more si%nificant human characteristics to
de,elop. This could lead to a discussion aout
the essential nature of humanity.
4.4.3 /utline three outcomes of the
sequencin% of the complete human
%enome.
"
4.4.7 State that, !hen %enes are transferred
et!een species, the amino acid
sequence of polypeptides translated from
them is unchan%ed ecause the %enetic
code is uni,ersal.
1 Aim #: There is an ethical or moral question
here$ !hether it is ri%ht to chan%e the %enetic
inte%rity of a species y transferrin% %enes to it
from another species. The discussion could
include the !ider question of selecti,e
reedin% of animals, and !hether this is
distincti,ely different and al!ays acceptale.
The possiility of animals sufferin% as a result
of %enetic modification could e considered.
4.4.? /utline a asic technique used for %ene
transfer in,ol,in% plasmids, a host cell
(acterium, yeast or other cell), restriction
en0ymes (endonucleases) and DNA
li%ase.
"
The use of E. coli in %ene technolo%y is !ell
documented. Bost of its DNA is in one circular
chromosome, ut it also has plasmids (smaller
circles of DNA). These plasmids can e
remo,ed and clea,ed y restriction en0ymes
at tar%et sequences. DNA fra%ments from
another or%anism can also e clea,ed y the
same restriction en0yme, and these pieces
can e added to the open plasmid and spliced
to%ether y li%ase. The recominant plasmids
formed can e inserted into ne! host cells and
cloned.
4.4.@ State t!o e'amples of the current uses of
%enetically modified crops or animals.
1 *'amples include salt tolerance in tomato
plants, synthesis of eta+carotene (,itamin A
precursor) in rice, hericide resistance in crop
plants and factor .= (human lood clottin%) in
sheep milk.
Aim #: The economic enefits of %enetic
modification to iotechnolo%y companies that
perform it could e considered. Also mention
the possiility that harmful chan%es to local
economies could result, and the dan%er that
!ealth could ecome more concentrated in a
smaller percenta%e of the population if
e'pensi,e ut profitale ne! techniques are
introduced. .n this respect, inequalities in
!ealth may ecome %reater.
4.4.1A Discuss the potential enefits and
possile harmful effects of one e'ample
of %enetic modification.
)
Aim #: There are ethical questions here aout
ho! far it is acceptale for humans to chan%e
other species, as !ell as other ecosystems, in
order to %ain enefit for humans.
TO$: This is an opportunity to discuss ho! !e
can assess !hether risks are %reat enou%h to
1ustify annin% techniques and ho! the
scientific community can inform communities
%enerally aout potential risks. .nformed
decisions need to e made ut irrational fears
should not e propa%ated. :onsideration could
e %i,en to the parado' that careful research
is needed to assess the risks, ut performin%
this research in itself could e risky. Do
protesters !ho destroy trials of #B crops
make the !orld safer6
4.4.11 Define clone. 1 :lone$ a %roup of %enetically identical
or%anisms or a %roup of cells deri,ed from a
sin%le parent cell.
4.4.1" /utline a technique for clonin% usin%
differentiated animal cells.
"
Aim #: *thical questions aout clonin% should
e separated into questions aout
reproducti,e clonin% and therapeutic clonin%.
Some %roups are ,ehemently opposed to oth
types.
4.4.1) Discuss the ethical issues of therapeutic
clonin% in humans.
) Therapeutic clonin% is the creation of an
emryo to supply emryonic stem cells for
medical use.