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 * __4.1 Chromosomes, genes, alleles and mutations __**

4.1.1 State that eukaryote chromosomes are made of DNA and proteins.

4.1.2 Define //gene //, //allele //and //genome //.

4.1.3 Define //gene mutation //.

4.1.4 Explain the consequence of a base substitution mutation in relation to the processes of transcription and translation, using the example of sickle-cell anemia.


 * __4.2 Meiosis __**

4.2.1 State that meiosis is a reduction division of a diploid nucleus to form haploid nuclei.

4.2.2 Define //<span style="font-family: 'MyriadPro-It','sans-serif'; font-size: 12px;">homologous chromosomes //<span style="font-family: 'MyriadPro-Regular','sans-serif'; font-size: 12px;">.

<span style="font-family: 'MyriadPro-Regular','sans-serif'; font-size: 12px;">4.2.3 Outline the process of meiosis, including pairing of homologous chromosomes and crossing over, followed by two divisions, which results in four haploid cells.

<span style="font-family: 'MyriadPro-Regular','sans-serif'; font-size: 12px;">4.2.4 Explain that non-disjunction can lead to changes in chromosome number, illustrated by reference to Down syndrome (trisomy 21).

<span style="font-family: 'MyriadPro-Regular','sans-serif'; font-size: 12px;">4.2.5 State that, in karyotyping, chromosomes are arranged in pairs according to their size and structure.

<span style="font-family: 'MyriadPro-Regular','sans-serif'; font-size: 12px;">4.2.6 State that karyotyping is performed using cells collected by chorionic villus sampling or amniocentesis, for pre-natal diagnosis of chromosome abnormalities.

<span style="font-family: 'MyriadPro-Regular','sans-serif'; font-size: 12px;">4.2.7 Analyse a human karyotype to determine gender and whether non-disjunction has occurred.


 * __<span style="font-family: 'MyriadPro-Bold','sans-serif'; font-size: 13.3333px;">4.3 Theoretical genetics __**

<span style="font-family: 'MyriadPro-Regular','sans-serif'; font-size: 12px;">4.3.1 Define //<span style="font-family: 'MyriadPro-It','sans-serif'; font-size: 12px;">genotype //<span style="font-family: 'MyriadPro-Regular','sans-serif'; font-size: 12px;">, //<span style="font-family: 'MyriadPro-It','sans-serif'; font-size: 12px;">phenotype //<span style="font-family: 'MyriadPro-Regular','sans-serif'; font-size: 12px;">, //<span style="font-family: 'MyriadPro-It','sans-serif'; font-size: 12px;">dominant allele //<span style="font-family: 'MyriadPro-Regular','sans-serif'; font-size: 12px;">, //<span style="font-family: 'MyriadPro-It','sans-serif'; font-size: 12px;">recessive allele //<span style="font-family: 'MyriadPro-Regular','sans-serif'; font-size: 12px;">, //<span style="font-family: 'MyriadPro-It','sans-serif'; font-size: 12px;">co-dominant alleles //<span style="font-family: 'MyriadPro-Regular','sans-serif'; font-size: 12px;">, //<span style="font-family: 'MyriadPro-It','sans-serif'; font-size: 12px;">locus //<span style="font-family: 'MyriadPro-Regular','sans-serif'; font-size: 12px;">, //<span style="font-family: 'MyriadPro-It','sans-serif'; font-size: 12px;">homozygous //<span style="font-family: 'MyriadPro-Regular','sans-serif'; font-size: 12px;">, //<span style="font-family: 'MyriadPro-It','sans-serif'; font-size: 12px;">heterozygous //<span style="font-family: 'MyriadPro-Regular','sans-serif'; font-size: 12px;">, //<span style="font-family: 'MyriadPro-It','sans-serif'; font-size: 12px;">carrier //<span style="font-family: 'MyriadPro-Regular','sans-serif'; font-size: 12px;">and //<span style="font-family: 'MyriadPro-It','sans-serif'; font-size: 12px;">test cross //<span style="font-family: 'MyriadPro-Regular','sans-serif'; font-size: 12px;">.

<span style="font-family: 'MyriadPro-Regular','sans-serif'; font-size: 12px;">4.3.2 Determine the genotypes and phenotypes of the offspring of a monohybrid cross using a Punnett grid.

<span style="font-family: 'MyriadPro-Regular','sans-serif'; font-size: 12px;">4.3.3 State that some genes have more than two alleles (multiple alleles).

<span style="font-family: 'MyriadPro-Regular','sans-serif'; font-size: 12px;">4.3.4 Describe ABO blood groups as an example of co-dominance and multiple alleles.

<span style="font-family: 'MyriadPro-Regular','sans-serif'; font-size: 12px;">4.3.5 Explain how the sex chromosomes control gender by referring to the inheritance of X and Y chromosomes in humans.

<span style="font-family: 'MyriadPro-Regular','sans-serif'; font-size: 12px;">4.3.6 State that some genes are present on the X chromosome and absent from the shorter Y chromosome in humans.

<span style="font-family: 'MyriadPro-Regular','sans-serif'; font-size: 12px;">4.3.7 Define //<span style="font-family: 'MyriadPro-It','sans-serif'; font-size: 12px;">sex linkage //<span style="font-family: 'MyriadPro-Regular','sans-serif'; font-size: 12px;">.

<span style="font-family: 'MyriadPro-Regular','sans-serif'; font-size: 12px;">4.3.8 Describe the inheritance of colour blindness and hemophilia as examples of sex linkage.

<span style="font-family: 'MyriadPro-Regular','sans-serif'; font-size: 12px;">4.3.9 State that a human female can be homozygous or heterozygous with respect to sex-linked genes.

<span style="font-family: 'MyriadPro-Regular','sans-serif'; font-size: 12px;">4.3.10 Explain that female carriers are heterozygous for X-linked recessive alleles

<span style="font-family: 'MyriadPro-Regular','sans-serif'; font-size: 12px;">4.3.11 Predict the genotypic and phenotypic ratios of offspring of monohybrid crosses involving any of the above patterns of inheritance.

<span style="font-family: 'MyriadPro-Regular','sans-serif'; font-size: 12px;">4.3.12 Deduce the genotypes and phenotypes of individuals in pedigree charts.


 * __<span style="font-family: 'MyriadPro-Bold','sans-serif'; font-size: 13.3333px;">4.4 Genetic engineering and biotechnology __**

<span style="font-family: 'MyriadPro-Regular','sans-serif'; font-size: 12px;">4.4.1 Outline the use of polymerase chain reaction (PCR) to copy and amplify minute quantities of DNA.

<span style="font-family: 'MyriadPro-Regular','sans-serif'; font-size: 12px;">4.4.2 State that, in gel electrophoresis, fragments of DNA move in an electric field and are separated according to their size.

<span style="font-family: 'MyriadPro-Regular','sans-serif'; font-size: 12px;">4.4.3 State that gel electrophoresis of DNA is used in DNA profiling.

<span style="font-family: 'MyriadPro-Regular','sans-serif'; font-size: 12px;">4.4.4 Describe the application of DNA profiling to determine paternity and also in forensic investigations.

<span style="font-family: 'MyriadPro-Regular','sans-serif'; font-size: 12px;">4.4.5 Analyse DNA profiles to draw conclusions about paternity or forensic investigations.

<span style="font-family: 'MyriadPro-Regular','sans-serif'; font-size: 12px;">4.4.6 Outline three outcomes of the sequencing of the complete human genome.

<span style="font-family: 'MyriadPro-Regular','sans-serif'; font-size: 12px;">4.4.7 State that, when genes are transferred between species, the amino acid sequence of polypeptides translated <span style="font-family: 'MyriadPro-Regular','sans-serif'; font-size: 12px;">from them is unchanged because the genetic code is universal.

<span style="font-family: 'MyriadPro-Regular','sans-serif'; font-size: 12px;">4.4.8 Outline a basic technique used for gene transfer involving plasmids, a host cell (bacterium, yeast or other cell), restriction enzymes (endonucleases) and DNA ligase.

<span style="font-family: 'MyriadPro-Regular','sans-serif'; font-size: 12px;">4.4.9 State two examples of the current uses of genetically modified crops or animals.

<span style="font-family: 'MyriadPro-Regular','sans-serif'; font-size: 12px;">4.4.10 Discuss the potential benefits and possible harmful effects of one example of genetic modification.

<span style="font-family: 'MyriadPro-Regular','sans-serif'; font-size: 12px;">4.4.11 Define //<span style="font-family: 'MyriadPro-It','sans-serif'; font-size: 12px;">clone //<span style="font-family: 'MyriadPro-Regular','sans-serif'; font-size: 12px;">.

<span style="font-family: 'MyriadPro-Regular','sans-serif'; font-size: 12px;">4.4.12 Outline a technique for cloning using differentiated animal cells.

<span style="font-family: 'MyriadPro-Regular','sans-serif'; font-size: 12px;">4.4.13 Discuss the ethical issues of therapeutic cloning in humans.