Unit 3: Genetics
a. caused by a single nucleotide/base substitution mutation/GAG to GTG
Explain the cause of sickle cell anemia and how this disease affects
19HL humans (8)
Mendel found the same pattern of inheritance in all the crosses
19HL that he performed. Outline, with examples, different types of
inheritance that produce non-Mendelian ratios (4)
b. «mutation of» a gene of β-globin/a subunit of hemoglobin
c. mRNA copies the mutation of DNA and substitutes an amino acid in hemoglobin «subunit»
d. glutamic acid is substituted by valine
e. sickle cell anemia involves distorted hemoglobin protein/HbS
f. «distorted HbS causes» distortion/sickling/shape change of red blood cells
g. «distorted/sickled red blood cells» block capillaries/blood flow
h. HbS/sickled red blood cells cannot carry enough oxygen «for the body»/leads to fatigue
i. low oxygen concentration seriously affects structure of HbS
j. homozygous «HbS/HbS» state causes severe anemia/death at low oxygen concentrations
k. heterozygous state has less anemia/minor effects/less effect of structure of hemoglobin OR heterozygous
state only affected at high altitude/extreme exercise/low levels of oxygen
l. «heterozygous state» provides protection against malaria parasite/selective advantage in malaria areas
a. some traits may involve many genes/be polygenic eg: height, skin colour «correct example
required»
b. linked genes/alleles of different genes on same chromosome
c. «small numbers of» recombinant phenotypes due to crossing over «between linked genes»
d. co-dominance of specific alleles/intermediate forms eg: pink flowers «from red and white ones»
/blood groups «correct example required»
e. sex-linked effects eg: colour blindness «correct example required»
f. environmental influence on inheritance/epigenetics/methylation
g. any other example of non-Mendelien inheritance with a specific example

18SL Explain the process of genetically modifying bacteria. (8)
Many diseases are caused by bacteria and other pathogens.
18SL Explain, using examples, how other factors can lead to disease in
humans. (7)
a. genetic modification carried out by gene transfer between species
b. genes transferred from one organism to another produce the same protein/amino acid sequence
c. due to universality of genetic code organisms use same codons of mRNA to code for specific
amino acids
d. mRNA for required gene extracted/identified
e. DNA copies of mRNA made using reverse transcriptase
f. PCR used (to amplify DNA to be transferred)
g. genes/DNA transferred from one species to another using a vector
h. plasmid acts as vector to transfer genes to bacteria/E. coli
i. plasmid cut open at specific base sequences using restriction endonuclease
OR plasmid cut to produce blunt ends then extra cytosine/C nucleotides added
OR sticky ends made by adding extra guanine/G nucleotides
OR mention of sticky ends if not gained already
j. cut plasmids mixed with DNA copies stick together (due to complementary base pairing)
k. DNA ligase makes sugar-phosphate bonds to link nucleotides of gene with those of plasmid
l. bacteria that take up plasmid are identified
n. example – eg: as production of human insulin using E. coli bacteria
For any non-pathogenic disease being addressed, look for the following components
● name of disease/condition.
● factor/category e.g.: genetic, lifestyle, environmental, psychological, multi-factoral.
● description/symptoms of disease.
● cause of disease.
At least 2 of these qualities must be present to earn any marks for a disease or category/factor
Award 4 MAX if only one condition is explained.
Cystic Fibrosis
genetic
multiple lung infections/sticky mucus allows opportunistic bacterial infections of lungs /
patients lack lipases/cannot digest fat/do not “thrive”
recessive (autosomal) allele / homozygous recessive subjects display cystic fibrosis
phenotype / chloride channels are faulty
Rickets
environmental / lifestyle / nutritional
bones are soft/do not calcify
lack of vitamin D

Explain benefits and risks of using genetically modified crops for
17SL
the environment and also for human health. (8)
Environment benefits:
a. pest-resistant crops can be made
b. so less spraying of insecticides/pesticides
c. less fuel burned in management of crops
d. longer shelf-life for fruits and vegetables so less spoilage
e. greater quantity/shorter growing time/less land needed
f. increase variety of growing locations / can grow in threatened conditions
Environment risks:
g. non-target organisms can be affected
h. genes transferred to crop plants to make them herbicide resistant could spread to wild plants
making super-weeds
i. GMOs (encourage monoculture which) reduces biodiversity
j. GM crops encourage overuse of herbicides
Health benefits:
k. nutritional value of food improved by increasing nutrient content
l. crops could be produced that lack toxins or allergens
m. crops could be produced to contain edible vaccines to provide natural disease resistance
Health risks:
n. proteins from transferred genes could be toxic or cause allergic reactions
o. antibiotic resistance genes used as markers during gene transfer could spread to «pathogenic»
bacteria
p. transferred genes could cause unexpected/not anticipated problems
health effects of exposure to GMO unclear
 Genes

a. mutation changes genes/causes genetic differences

b. genes can have more than one allele/multiple alleles
alleles are different forms/versions of a gene
c. different alleles «of a gene» give different characters
variation in alleles between individuals
d. eye colour/other example of «alleles of» a gene affecting a character
e. alleles may be dominant or recessive
dominant alleles determine trait even if recessive allele is present
f. both alleles influence the characteristic with codominance
reference to polygenic inheritance
g. all members of a species are genetically similar/have shared genes
Discuss the role of genes and chromosomes in determining
certain genes expressed in all members of a species
17HL individual and shared character features of the members of a
h. reference to epigenetics/methylation/acetylation / not all genes are expressed «in an individual»
species. (7)
i. genes are inherited from parents/passed on to offspring/passed from generation to generation

Chromosomes

j. same locus/same position of genes

same sequence of genes/same genes on each chromosome «in a species»
k. same number of chromosomes «in a species»/all humans have 46 chromosomes/differences in
chromosome number between species
l. some individuals have an extra chromosome/Down syndrome/other example of aneuploidy
polyploidy divides a species/creates a new species
m. X and Y/sex chromosomes determine the sex/gender of an individual
n. meiosis/independent assortment/fertilization/sexual reproduction give new combinations «of
chromosomes/genes»

a. speciation is the splitting of a species «into two species»

b. reproductive isolation/lack of interbreeding
c. isolation due to geography/«reproductive» behavior/«reproductive» timing
d. polyploidy can cause isolation
17HL Outline the process of speciation. (4)
e. gene pools separated
f. differences in/disruptive selection cause traits/gene pools to change/diverge
g. gradualism / speciation/changes accumulating over long periods
h. punctuated equilibrium / speciation/changes over a short time period
 a. «crossing over/chiasmata shown between» homologous chromosomes
b. centromere drawn and labelled
c. single strand break «SSB»/DNA cut between homologous chromosomes
Draw a labelled diagram of the formation of a chiasma by crossing
17HL d. non-sister chromatids labelled
over. (3)
sister chromatids labelled
e. chiasma between homologous chromosomes labelled «shown forming after SSB»
Homologous chromosomes must be labelled and correctly drawn.

Key or text giving alleles with upper case for dominant allele and lower case for recessive
allele/allele causing disease

Reject key showing a sex linked gene such as hemophilia.

Reject if X or Y chromosomes are shown with the alleles.
Accept Aa or any other upper and lower case letters.

Punnett grid showing that both parents can pass on either a dominant or a recessive allele in their
gamete

For example row and column headings with A and a.

This mark can be awarded if X or Y chromosomes are shown but each parent has one recessive
Many genetic diseases are due to recessive alleles of autosomal and one dominant allele as if for autosomal inheritance.
genes that code for an enzyme. Using a Punnett grid, explain how
16HL
parents who do not show signs of such a disease can produce a Four possible genotypes for child correctly shown on grid
child with the disease. (4)
AA, Aa, aA and aa for example.
This mark can be awarded if X or Y chromosomes are shown but the genotypes are correct for
autosomal inheritance.

Double/homozygous recessive shown having the disease

Cannot be awarded with sex linkage.

25 % or 0.25 or 1/4 chance of inheriting the disease

This mark can be awarded if X or Y chromosomes are shown but the ratio is correct for autosomal
inheritance.
 a. plasmid used for gene transfer/removed from bacteria;
b. plasmid is a small/extra circle of DNA;
c. restriction enzymes/endonucleases cut/cleave DNA (of plasmid);
d. each restriction enzyme cuts at specific base sequence/creates sticky ends;
15HL Outline a technique used for gene transfer. (5)
e. same (restriction) enzyme used to cut DNA with (desired) gene;
f. DNA/gene can be added to the open plasmid/sticky ends join gene and plasmid;
g. (DNA) ligase used to splice/join together/seal nicks;
h. recombinant DNA/plasmids inserted into host cell/bacterium/yeast;

a. colour blindness caused by recessive allele / colour blindness is recessive;

b. gene located on X chromosome/sex-linked;
c. Xb is allele for colour blindness and XB is allele for normal colour vision/dominant allele;
d. male has one X and one Y chromosome;
e. male has only one copy of gene(s) located on X chromosome
f. X chromosome (in males) comes from female parent;
g. any male receiving allele from mother will express the trait;
h. XbY is genotype for colour blind male;
15SL Explain the inheritance of colour blindness. (8) i. many more males have colour blindness than females;
j. female will express colour blindness only if is homozygous recessive/Xb Xb;
k. heterozygous/XB Xb female is a carrier;
l. colour blind female could be born to colour blind father and carrier mother;

Marks may be earned for use of annotated diagram/Punnett square to show points given above.
Accept use of letters other than B and b as long as capital letter is used for dominant and lower case
letter for recessive alleles. For using other improper notation (not showing X or Y), award [0] for the
first misuse and then apply ECF to additional notation as long as usage is consistent.

a. DNA from child, mother and possible father(s) used to establish paternity;
b. (DNA profiling is done) for legal reasons / divorce / inheritance;
c. (DNA profiling is done) for personal reasons / self-esteem issues for children/fathers/parents;
d. DNA copied/amplified using PCR;
Describe the application of DNA profiling to determine paternity.
15SL e. DNA cut using restriction enzymes;
(5)
f. (gel) electrophoresis used to separate DNA fragments;
g. pattern of bands is produced (in gel);
h. analysed for matches between child with mother and possible father;
i. (about) half the child's bands will match the father (while the other half will match the mother);

Meiosis in humans produces cells that participate in fertilization.
15SL
Outline the processes involved in meiosis. (5)
a. meiosis reduces a diploid cell into (four) haploid cell(s);
b. (during prophase I) homologous chromosomes pair up/synapsis;
c. chromatids (break and) recombine / crossing over
d. (metaphase I) (homologous chromosomes) at the equator of the spindle / middle of cell;
e. (anaphase I) (homologous) chromosomes separate and move to opposite poles;
f. (telophase I) chromosomes reach poles and unwind WTTE;
g. (prophase II) chromosomes (condense and) become visible, new spindles form;
h. (metaphase II) chromosomes line up at the centre of the cells/equator;
i. (anaphase II) sister chromatids separate;
j. (telophase II) chromatids reach the poles and unwind;

a. differentiated/somatic/diploid cells taken from donor animal/sheep udder;

Following fertilization, cells in the developing embryo differentiate.
15SL
Outline a technique for cloning using differentiated animal cells. (5)
b. (diploid) nucleus from donor cells removed;
c. ova/eggs cells removed from (donor) animal/female sheep;
d. (haploid) nucleus removed from eggs/ova;
e. (diploid/donor’s) nucleus is fused with/inserted into egg/ovum (to form zygote);
f. embryo (from cell with donor nucleus and egg from surrogate) implanted in uterus of surrogate
mother;
g. normal pregnancy and birth is completed;
h. offspring is a genetic copy/clone of the donor mother/diploid nucleus WTTE;
 a. therapeutic cloning involves producing embryos from which embryonic stem cells can be
harvested for medical use;

argument in favour:
b. (to many people) any procedure that reduces pain and suffering is ethically/morally justified;
c. stem cells can be used to replace organs/tissues that have been lost/damaged in a patient;
d. (thus) pain and suffering can be reduced/lives can be saved/life quality improved;
e. cells can be removed from embryos that have stopped developing and would have died anyway;
f. cells are removed at a stage when no pain can be felt by the embryo;
g. use embryos from IVF that would otherwise be destroyed;
15SL Discuss ethical issues of therapeutic cloning in humans.
Accept up to one additional reasonable argument in favour.

argument against:
h. embryonic stem cells are no longer needed as adult stem cells can be used without causing loss
of life;
i. there is danger of embryonic stem cells developing into tumour cells/harmful effects are not yet
known;
j. every human embryo is a potential human with the right to development;
k. more embryos may be produced than can be used and so some would be killed;
l. (to many people) any procedure that harms a life/kills is unethical/morally wrong;
Accept up to one additional reasonable argument against.

a. (consists of) prophase, metaphase, anaphase and telophase;

b. chromosome number halved/reduced/(diploid) to haploid;
c. homologous chromosomes pair up/form a bivalent/synapsis in prophase;
d. crossing over between non-sister chromatids/chromatids of different homologues;
e. nuclear envelope breaks down (at end of prophase/start of metaphase);
Outline the processes that occur during the first division of meiosis. f. tetrads/bivalents/homologous pairs move to/align on equator/cell centre/on metaphase plate in
15SL
(6) metaphase; (accept homologous chromosomes without pairs if pairing has already been described)
g. attachment of spindle fibres/microtubules to centromeres/kinetochores;
h. (homologous) chromosomes separate/pulled to opposite poles in anaphase;
i. nuclear envelopes reform/do not reform (because of meiosis II) in telophase;
Accept the above points in a series of annotated diagrams. Reject answers with single chromatids
forming pairs in metaphase or separating or moving to opposite poles in anaphase.

15HL Outline outcomes of the human genome project. (4)
Using a named example of a genetically modified crop, discuss the
15HL
specific ethical issues of its use. (6)
a. complete human DNA/chromosomes sequenced;
b. identification of all human genes / find position/map (all) human genes;
c. find/discover protein structures/functions;
d. find evidence for evolutionary relationships/human origins/ancestors;
e. find mutations/base substitutions/single nucleotide polymorphisms;
f. find genes causing/increasing chance of/develop test for/screen for diseases;
g. develop new drugs (based on base sequences) / new gene therapies;
h. tailor medication to individual genetic variation / pharmacogenomics;
i. promote international co-operation/global endeavours;
a. named example of verified genetically modified crop; eg, Bt corn / golden rice;
Example must be verifiable.
b. specific gene added / new protein synthesized by the crop plant / specific modification; eg gene
from Bacillus thuringiensis / cry protein;
c. biological effect of the modification; eg, makes the plant toxic to (herbivorous) insects / insect
pests / corn borers;
[2 max] for benefits and [2 max] for harmful effects / costs;
d. a benefit of specific genetic modification; eg, increased crop yields / less land needed;
e. a second benefit of this specific modification; eg, reduced need for use of chemical pesticides;
f. a harmful effect of specific genetic modification; ingestion of toxin by nontarget species;
g. another specific harmful effect; eg, concerns about contamination of neighbouring non-GMO
crops affecting trade;

Sickle-cell anemia affects the ability of red blood cells to transport
oxygen.Explain the consequence of the mutation causing sickle-
13HL
cell anemia in relation to the processes of transcription and
translation. (6)
Define codominant allele, recessive allele, locus and sex linkage.
13SL
(4)
To award [6] responses need to address the name, description and the effect of the modification.
Effects have to be linked to the specific example discussed. Marks have to be all linked to one
example. Assistant examiners are required to research examples.
caused by single base substitution (mutation);
mutation in gene coding for (one of) polypeptide chain in hemoglobin/HbA;
GAG (on sense strand of DNA) mutated to GTG;
when transcribed, RNA sequence/codon becomes GUG rather than GAG;
during translation, have one amino acid substituted for another;
causes glutamic acid/glutamate to be replaced by valine;
change alters folding of Hb protein/makes RBCs sickle-shaped (in low oxygen);
sickle shaped cells block capillaries/cause tissue damage and pain;
Award any of the above points for a clearly drawn correctly annotated diagram.
a. codominant allele: (pair of) alleles that both affect the phenotype when present in a heterozygote /
both alleles are expressed;
b. recessive allele: an allele that produces its characteristic phenotype only when present in
homozygous state / is expressed when dominant allele not present;
c. locus: the (particular) position of a gene on a chromosome/homologous chromosomes;
d. sex linkage: a gene located on a sex chromosome/X/Y/X or Y chromosome;

ABO blood groups are inherited from parents, but it is possible for
13SL a child to have a different blood group from either parent. Outline
how this can happen using a Punnett grid. (6)
Explain how males inherit hemophilia and how females can
13SL
become carriers for the condition.
Outline the use of named enzymes in gene transfer using
13SL
plasmids.(6)
Factor IX is a blood clotting protein which some hemophiliacs lack.
In the future hemophilia could be treated using clotting factors
13HL
synthesized by genetically modified bacteria. Outline the basic 
technique used for this gene transfer. (6)
Example / annotated Punnett grid showing a cross between blood groups showing:
a. parental genotype (for example IAi and IBi therefore A and B phenotypes);
b. gametes of one parent; (shown in Punnett grid)
c. gametes of other parent; (shown in Punnett grid)
d. genotypes of offspring; (shown in Punnett grid)
e. phenotypes of offspring expressed as a ratio or possibly in the Punnett grid;
f. blood group different to parent shown and identified (ie ii is blood group O);
Award [4 max] if correct notation not used.
Award [2 max] if Punnett grid is not used.
a. hemophilia is due to a recessive allele/is a recessive trait / XH is normal allele and Xh is
hemophilia allele;
b. hemophilia is sex linked;
c. allele/gene is on the X chromosome;
Reject disease/hemophilia carried on X chromosome.
d. (sex chromosomes in) females are XX while males are XY;
e. Y chromosomes do not have the allele/hemophiliac males are XhY;
f. males inherit their X chromosome from their mother/do not pass the allele to sons;
g. males have only one copy so recessive trait/allele is not masked;
h. males have a 50 % chance of hemophilia/receiving the allele if mother is a carrier;
i. carrier is heterozygous for the gene/is XHXh;
j. dominant/normal allele masks the recessive allele (so clotting is normal);
k. females inherit one X chromosome from father and one from mother;
l. affected/hemophiliac males have carrier daughters;
m. hemophilia allele could have been inherited from either parent;
a. plasmids are removed/obtained from bacteria;
b. endonuclease/restriction enzymes cut the plasmids at target sequences;
c. DNA fragments of other organism are cut with the same restriction enzymes;
d. in both DNA and plasmid, complementary sticky ends/staggered cut are produced;
e. DNA segment added to the opened plasmid;
f. spliced together by ligase;
g. reverse transcriptase makes DNA copies of mRNA / DNA polymerase to increase the amount of
DNA;
h. recombinant plasmids inserted into new/host cells;
i. cultured/cloned to produce the new genes/more genetically modified cells;
Award [3 max] if no specific enzyme names are given.
Do not accept the word “enzyme” on its own.
a. mRNA/gene coding for factor IX extracted from human cell/tissue;
b. mRNA copied to DNA/cDNA (using reverse transcriptase);
c. plasmids used (for gene transfer);
d. restriction enzyme/endonuclease used to open plasmid/cut DNA;
e. complementary bases/sticky ends on gene and plasmid/link gene to plasmid;
f. sealed using ligase;
g. recombinant plasmid/plasmid containing desired gene taken up by bacteria;
h. isolate/clone the recombinant/transformed bacteria;
i. bacteria cultured/grown in fermenter to produce factor IX;
 a. hemophilia is due to a recessive allele/is a recessive trait / XH is normal allele and Xh is
hemophilia allele;
b. hemophilia is sex linked;
c. allele/gene is on the X chromosome;
Reject disease/hemophilia carried on X chromosome.
d. (sex chromosomes in) females are XX while males are XY;

e. Y chromosomes do not have the allele/hemophiliac males are XhY;

Explain how males inherit hemophilia and how females can
13HL
become carriers for the condition. (8)
f. males inherit their X chromosome from their mother/do not pass the allele to sons;
g. males have only one copy so recessive trait/allele is not masked;
h. males have a 50% chance of hemophilia/receiving the allele if mother is a carrier;

i. carrier is heterozygous for the gene/is XHXh;

Sickle-cell anemia affects the ability of red blood cells to transport
oxygen.Explain the consequence of the mutation causing sickle-
13HL
cell anemia in relation to the processes of transcription and
translation. (6)
Discuss the benefits and possible harmful effects of altering
species by one example of genetic modification. (8)
12SL
j. dominant/normal allele masks the recessive allele (so clotting is normal);
k. females inherit one X chromosome from father and one from mother;
l. affected/hemophiliac males have carrier daughters;
m. hemophilia allele could have been inherited from either parent;
caused by single base substitution (mutation);
mutation in gene coding for (one of) polypeptide chain in hemoglobin/HbA;
GAG (on sense strand of DNA) mutated to GTG;
when transcribed, RNA sequence/codon becomes GUG rather than GAG;
during translation, have one amino acid substituted for another;
causes glutamic acid/glutamate to be replaced by valine;
change alters folding of Hb protein/makes RBCs sickle-shaped (in low oxygen);
sickle shaped cells block capillaries/cause tissue damage and pain;
Award any of the above points for a clearly drawn correctly annotated diagram.
DNA is universal (genes can be transferred among species);
gene modification is the transfer of genetic material between species;
named example; (e.g. glyphosate resistant crops)
source of gene; (e.g. bacteria)
function of gene; (e.g. resistance to herbicides)
modified organisms; (e.g. soya beans)
argument in favour/benefit of named example; (e.g. increase in crop yield)
argument in favour/benefit of named example; (e.g. reduction in use of herbicides)
argument in favour/benefit of named example; (e.g. glyphosate breaks down into naturally occurring
components so glyphosate resistant crops are justified)

argument against/risk of named example; (e.g. (application of) glyphosate could cause cancer in
future)
argument against/risk of named example; (e.g. could be transferred to wild plants)
argument against/risk of named example; (e.g. genetically modified crops may cause allergies)
X and Y chromosomes determine sex;
females XX and males XY;
Distinguish between autosomes and sex chromosomes in humans.
12HL X chromosome is larger than / carries more genes than the Y chromosome;
(4)
22 types/pairs of autosomes;
males and females have same types of autosomes;
 Describe the inheritance of hemophilia including an example using
12HL
a Punnett grid. (6)
one (homologous) chromosome is from the mother and one from the father;
homologous chromosomes pair (in prophase I);
crossing over/chiasma formation in prophase I;
recombination of linked genes / alleles/genes swapped;
many possible points of crossing over;
Explain how meiosis results in an effectively infinite genetic variety crossing over occurs at random positions;
12HL
of gametes. (8) due to crossing over the two chromatids of metaphase I chromosomes are not identical;
random orientation (of bivalents) in metaphase I;
in anaphase/at end of metaphase I chromosomes move to opposite poles;
independent assortment of chromosomes/genes;
2n/223 combinations (without considering crossing over);
four genetically different nuclei/gametes from each meiosis;
genes that are located on just one of the sex chromosomes/X or Y are sex-linked;
(sex-linked) genes present on the X chromosome are absent from the Y chromosome / vice versa;
named recessive X-linked condition (e.g. colour blindness / haemophilia / other valid example);
sex-linked conditions tend to be more commonly expressed in males;
female can be homozygous or heterozygous/carrier for a sex-linked/X-linked condition;
affected males have only one copy of the gene / have carrier daughters but cannot pass the
Outline the inheritance of a named sex-linked condition in humans.
12HL condition on to sons;
(5)
carrier/heterozygous females can have affected sons/carrier daughters;
for a female to be affected (homozygous recessive) the father must be affected;

If the example used is of a recessive X-linked condition, use marking points c–h.
Make appropriate adjustments if the example is of a dominant X-linked trait or a Y-linked trait.
Accept any of the above points shown in a suitable diagram/chart/Punnett square/pedigree.
Definition and construction of karyotypes:
karyotype is the number and type / image of chromosomes in a cell;
cells collected from chorionic villus / by amniocentesis;
requires cells in metaphase / stimulate cells to divide and reach metaphase;
burst cells and spread chromosomes / photo taken of chromosomes;
chromosomes are arranged in pairs;
according to size/structure/position of centromere/banding pattern;
12HL Explain the use of karyotyping in human genetics. (8)
Uses for karyotypes:
karyotypes used to identify sex/gender;
male is XY and female XX;
used to identify chromosome mutations/abnormal numbers/non-disjunction;
Down syndrome due to extra chromosome 21 / other trisomy/aneuploidy example;
used for pre-natal diagnosis of chromosome abnormalities;
may lead to a decision to abort the fetus;
prepare for consequences of abnormality in offspring;
chromosome: structure formed by DNA and proteins;
gene: a heritable factor that controls a specific characteristic;
11SL Define the terms chromosome, gene, allele and genome. (4)
allele: one specific form of a gene occupying the same gene locus as other alleles of the gene;
genome: the whole of the genetic information of an organism;
 Down syndrome is caused by non-disjunction;
occurs during meiosis;
chromosome pairs fail to separate in meiosis I / chromatids in meiosis II / anaphase II;
11HL Describe the causes of Down syndrome. (5) some gametes have an extra chromosome;
can lead to zygotes/individuals with an extra chromosome / individual has 47 chromosomes;
in Down syndrome this would be trisomy 21/extra chromosome 21;
increased probability with increased age of mother/ages of parents;
skin colour is an example of polygenic inheritance;
many/more than two genes contribute to a person’s skin colour;
due to the amount of melanin in the skin;
combination of alleles determines the phenotype;
11HL Describe how human skin colour is determined genetically.(5) allows for range of skin colours / continuous variation of skin colour;
phenotypes do not follow simple Mendelian ratios of dominance and recessiveness;
the environment also affects gene expression of skin colour / sunlight/UV light stimulate melanin
production;
the more recessive alleles there are, the lighter the skin colour; (vice versa)
caused by gene mutation;
(sickle-cell anemia) due to a base substitution (mutation);
changes the code on the DNA;
which leads to a change in transcription / change in mRNA;

DNA changes from CTC to CAC/GAG to GTG / mRNA changes from GAG to GUG; (accept DNA
changes from CTT to CAT/GAA to GTA / mRNA changes from GAA to GUA)

11HL Explain the causes of sickle-cell anemia. (8) which (in turn) leads to a change in translation / change in polypeptide chain/ protein;
(the tRNA) adds the wrong amino acid to the polypeptide chain;
glutamic acid replaced by valine;
produces abnormal hemoglobin;
causing abnormal red blood cell/erythrocyte shape / sickle shape;
which lowers the ability to transport oxygen;
sickle-cell allele is codominant;
homozygote/HbS HbS have sickle cell anemia/is lethal / heterozygote/HbS HbA has the sickle trait/is
carrier (and is more resistant to malaria);
crossing over/chiasmata formed during prophase I of meiosis;
pairing of homologous chromosomes/synapsis;
chromatids break (at same point); (do not accept chromatids overlap)
non-sister chromatids join up/swap/exchange alleles/parts;
10HL Outline the formation of chiasmata during crossing over. (5) X-shaped structure formed / chiasmata are X-shaped structures;
chiasma formed at position where crossing over occurred;
chiasmata become visible when homologous chromosomes unpair;
chiasma holds homologous chromosomes together (until anaphase);
Accept the above points in an appropriately annotated diagram.
 non-disjunction;
chromosomes/chromatids do not separate / go to same pole;
non-separation of (homologous) chromosomes during anaphase I;
due to incorrect spindle attachment;
non-separation of chromatids during anaphase II;
10HL Explain how an error in meiosis can lead to Down syndrome. (8) due to centromeres not dividing;
occurs during gamete/sperm/egg formation;
less common in sperm than egg formation / function of parents' age;
Down syndrome due to extra chromosome 21;
sperm/egg/gamete receives two chromosomes of same type;
zygote/offspring with three chromosomes of same type / trisomy / total 47 chromosomes;