Practice Exam Questions Unit 4 Area of Study: 1

Question High level Answer High level Answer Explanation

Spinal Muscular Atrophy (SMA) is a neuromuscular disease characterized by degeneration of motor neurons, resulting in progressive muscular atrophy (wasting away) and weakness. t is an autosomal recessive disorder.

(a) As the disorder can skip generations, the disorder must be recessive. n addition, as males and females are e-ually affected, and that a female suffering from the condition can have sons who are not affected, the gene responsible for the disorder cannot be !he following pedigree shows a family in se&)linked, thus it is autosomal. which SMA is found. (' marks) (b) A carrier is a person who is "igure #$ SMA pedigree. heterozygous for a given gene. !he person.s recessive allele for a disease is masked by their normal dominant allele, thus they e&hibit a normal phenotype. /owever, the person can transmit the condition to their offspring, where the disease might be e&pressed. (# mark) (c) As they are both carriers, their genotype is Aa (A 0 normal, a 0 SMA mutation). (a) %&plain how the pedigree provides evidence that the disorder is "igure 1$ 2unnett s-uare. autosomal recessive. (' marks) (ouple )* and )+ are pregnant. ,oth
A a

(a) Student has e&plained how the pedigree shows that the disorder is both recessive and autosomal. (b) Student has used genetic terminology to e&plain the term 3carrier.. (c) Student has used a 2unnett s-uare to determine correct percentage. t is also wise to choose a letter code with upper case and lower case letters which look different when handwritten (e.g. Aa instead of Ss) (d) !he correct genotype has been inferred. (e) !he student has correctly e&plained that the baby will not suffer from SMA.

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)* and )+ are carriers for SMA. (b) =hat is meant by the term 3carrier.> (# mark) (c) =hat is the probability that their ne&t child will inherit SMA> (' marks) t is possible to screen embryos in order to determine if the resultant individual will suffer from SMA. ?8A is obtained from the embryo, cut into fragments using a specific restriction enzyme, then separated on an electrophoresis gel. !he following diagram shows the results of such a test for an unborn baby. "igure '$ %lectrophoresis gel SMA.

AA 8orma l

Aa 8ormal aa SMA

Aa 8orma l

8ormal$ SMA 1$ # "rom the 2unnett s-uare, they have a @ chance of having a child with SMA. (' marks) (d) !he genotype is Aa. (# mark) (e) "rom the gel, the baby has inherited a normal allele and a mutant allele, therefore the baby will be a carrier, and is not homozygous recessive. (# mark)
Low level Answer Low level Answer Explanation

(d) =hat is the genotype for the unborn baby> (# mark) (e) %&plain whether the unborn baby will suffer from SMA. (# mark) !otal : marks

(a) !he disorder can skip generations, so it must be autosomal recessive. f it was dominant, the disorder could not skip generations. (# mark) (b) A carrier is a person who can pass on a disorder but does not show it. (5 marks) (c) As carriers have a @ in chance of passing on the disorder, and one of their previous three children has had SMA, the unborn child will not have the disorder. (5 marks) (d) !he genotype is Ss. (# mark) (e) t won.t suffer SMA as it has a normal

(a) Strength Student recognises the pedigree pattern of recessive disorders. Areas for improvement An e&planation as to why the disorder is autosomal is needed. (b) Strength !he student has demonstrated a basic understanding of the term 3carrier.. Areas for Improvement !he e&planation needs to include more genetic terms, such as allele and heterozygous. (c) Areas for improvement
'

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allele. (# mark) !otal 1 marks

!his is incorrect. Student.s understanding of genetic probability needs to be reviewed. %ach pregnancy is a new event. (d) Strength !he student has correctly interpreted the gel. Areas for improvement !he student needs to e&plain the allelic symbols used. !he student should also choose letters which have distinctly different capital and lower forms (e.g. ,b or ?d). (e) Strength !he student has provided a correct e&planation as to why the baby will not suffer from SMA.

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Question

High level Answer

High level Answer Explanation

Meiosis is a type of cell division that leads to the production of gametes. (a) ?efine what a gamete is. (# mark) !he following diagram shows the behaviour of chromosomes during a certain stage of meiosis. "igure *$ 2hase of meiosis.

(b) dentify the process that is occurring here. (# mark) (c) Ase a diagram to describe how this process can increase genetic variation of the inherited alleles in gametes. (1 marks) !otal + marks

(a) 6ametes are haploid se& cells of an (a) ?etailed e&planation that includes organism that fuse together to form a scientific language. zygote. (# mark) (b) dentify only re-uires that the process be (b) !he process is called crossing)over. t recognised and named to get full marks. occurs during late prophase of meiosis !his answer shows e&tra depth of when the 3arms. of homologous knowledge, which is good, but is not chromosomes e&change genetic necessary for the # mark. material. (# mark) (c) 6ood use of technical language and the (c) 7inked genes, which usually travel description clearly e&plains increased together on the same maternal or genetic variation. !he diagram showing paternal chromosome, can be alleles a and A being e&changed is separated by crossing)over so that new valuable here. combinations of alleles become possible, increasing genetic variation. =ithout crossing over, the linked capital letter alleles would stay together, as would the small cap alleles. /owever, crossing allows the alleles to change over, forming new combinations of alleles, as shown below. "igure +$ (rossing over e&plained.

(1 marks) !otal score + marks

Low level Answer Low level Answer Explanation * (opyright 4 2earson Australia '5#' (a division of 2earson Australia 6roup 2ty 7td) S,8 9:; # **'+ +<'* 9

(a) 6ametes are se& cells. (5 marks) (b) (rossing)over. (# mark) (c) !he genetic information gets more mi&ed up. (5 marks) !otal score # mark

(a) Strength Student understands that gametes are se& cells. Areas for improvement A more detailed understanding of the genetic features of gametes is re-uired. (b) Strength (orrect. As the -uestion only re-uires identification, no further information is re-uired. (c) Areas for improvement Ase technical language to describe the process properlyB refer to alleles as askedB use a diagram as instructed. !hese types of -uestions should be thoroughly practised before sitting the e&am.

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Question

High level Answer

High level Answer Explanation

(a) ?efine the term 3transgenic species.. (# mark) (b) ?raw a flow chart to outline the steps needed to produce transgenic species. (* marks) (c) ?iscuss two ethical issues arising from the development and use of transgenic species, including a named e&ample of a transgenic species and a reason for its use. (* marks) !otal ; marks

(a) An organism containing genetic material from two or more different speciesB artificially produced by recent laboratory technologies eg ,t cotton. (# mark) (b) "igure <$ !ransgenic flowchart dentify the gene re-uired from one species Destriction enzymes cut ?8A in specific places to cut out the selected gene and to cut into a bacterial plasmid ?8A at the same base se-uence, leaving sticky ends 7igase enzymes are used to Eoin the selected gene into the plasmid ?8A making recombinant (transgenic) ?8A 2olymerase chain reaction (2(D) is used to produce many copies of this recombinant ?8A !ransfer processes are used to insert the ?8A into the host species e.g. a bacterial cell. ,iologists use vectors such as bacteria and viruses, and molecular technology such as microinEection and gene guns.

(a) (orrect definition and e&ample. !he e&ample is not necessary for the # mark. (b) ?etailed correct flow chart using scientific language and appropriate flow chart symbols (arrows). (c) =hile this answer contains more information than is re-uired for the * marks, the student has included$ at least two different issues discussed with specific e&amplesB both positive and negative points (this is re-uired for a discuss verb).

(* marks) (c) %thical issues include$ 2ositives (opyright 4 2earson Australia '5#' (a division of 2earson Australia 6roup 2ty 7td) S,8 9:; # **'+ +<'* 9 !ransgenic species$ C /elp clean up the environment e.g. transgenic bacteria which can e&tract

Question

High level Answer

High level Answer Explanation

A geneticist was studying the inheritance of coat length in cats and performed the following cross$ "igure :$ (at cross.

(a) 7et / 0 short hair, h 0 long hair "igure 9$ (at hair cross, high.
H /h /h H /h /h

8, t is wise to choose a letter code with upper case and lower case letters which look different when handwritten. %.g. Ase /h not (c. (a) (orrect 2unnett s-uare to e&plain most likely inheritance pattern. (b) !his answer covers all the phenotypes and gives the most likely reasons for the number of offspring of each type. (c) (i) and (ii) Student has used scientific language like heterozygous to describe Dhesus factor blood groups. !wo 2unnett s-uares are correct and appropriate symbols have been used to show dominant and recessive alleles. (onclusions from 2unnett s-uares are logical and provide evidence to show the answer to the problem.

h h

F short)hair male long)hair female

!he results of the cross are shown in the table below$ "igure ;$ (at cross results.
Phenotype Short hair 7ong hair Medium hair Total Offspring number ## 5 5 11

(a) Ase this information and your genetics knowledge to draw a 2unnett s-uare that e&plains the inheritance of coat length in cats. (# mark) (b) Account for the numbers of each phenotype in the offspring. (' marks)

(' marks) (b) ,ecause there are no long)hair offspring in the "# generation, it can be inferred that short)hair is dominant and long)hair is recessive. A phenotype of short hair is only possible if the male genotype is // and the female hh, e&plaining why all ## offspring have short hair. Medium)hair would only be possible with an incomplete inheritance pattern and there are none of these phenotypes so it is unlikely. =hile other inheritance patterns are possible by chance, a simple dominant)recessive pattern with parent genotypes as shown is the most likely. (c)(i) Although the mother has blood type G, the father has blood type A,, therefore the only gametes he can produce are A or ,. 7et 7et
A ,

0 A dominant allele 0 , dominant allele

;

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(c) Asing 2unnett s-uares, e&plain$ (i) /ow it is impossible for a man who is blood group A, to father a child of blood group G, even though the mother has blood group G. (' marks) (ii) /ow two rhesus positive people can produce a rhesus negative child> (' marks)

7et i 0 G recessive allele "igure #5$ A,G cross, high.

A ,

i i !he 2unnett

A A

i i

, ,

i i

s-uare shows that the offspring of the father with A, blood can only be A or , blood. (' marks) (ii) f two rhesus people are heterozygous for the trait, there is a '+H chance that they will have a Dhesus negative child. 7et ? 0 Dhesus positive 7et d 0 Dhesus negative "igure ##$ Dhesus cross, high.
? d ? ?? ?d d ?d dd

!he offspring dd will have the phenotype Dhesus negative. (' marks) !otal score ; marks

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Low level Answer

Low level Answer Explanation

(a) "igure #'$ (at hair cross, low.

(a) Areas for improvement =hile this pattern is possible it is unlikely. t indicates # in ' chance of getting a long) / h hair cat and if ## offspring are born it h /h hh would be very unlikely that none are hh genotype. h /h hh (b) Strength ?ominance of short hair is recognised and (5 marks) linked to offsprings. phenotypes. (b) !he short hair is dominant so all the Areas for improvement offspring are long haired. (# mark) All the phenotypes must be accounted for (c)(i) An A, man cannot father an G including medium)hair being an child. incomplete dominance pattern, which is "igure #1$ A,G low. not indicated. (c) Strength A , (i) and (ii) Student shows an G AG ,G understanding of the inheritance of blood G AG ,G types and rhesus antigens. Areas for improvement (# mark) (i) !he e&planation is too brief. !he (ii) !wo rhesus positive people can have a student needs to e&plain the results of the child that is rhesus negative because 2unnett s-uare more thoroughly. Also, the they can both carry the rhesus negative choice of letters to show blood groups is gene. (5 mark) not appropriate. !he letters A, , and i show the uni-ue !otal score ' marks dominantIrecessiveIcodominant inheritance of blood in more detail. (ii) !he student needed to show a 2unnett s-uare and provide evidence for the
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statement.

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