#5.1.1a
patterns of monogenic (monohybrid) inheritance
To include the correct usage of the terms gene, allele (gene variant), locus, phenotype, genotype, dominant and recessive, heterozygous and homozygous and codominant.
#5.1.1b
gene mutations
To include cystic fibrosis, sickle cell anaemia, phenylketonuria (PKU) and Huntington’s disease.
#5.1.1c
patterns of inheritance which show codominance and multiple gene variants (alleles)
To include the inheritance of blood groups and HLA antigens in humans.
#5.1.1d
patterns of inheritance which show sex linkage and autosomal linkage
To include haemophilia (sex linkage) and ABO blood group and nail patella syndrome (autosomal linkage).
#5.1.1e
the use of model organisms to investigate patterns of inheritance
To include Drosophila melanogaster AND patterns of inheritance to include dihybrid inheritance AND the use of the chi-squared (\(\chi^2\)) test to analyse various patterns of inheritance.
#5.1.1f
chromosome mutations in humans
To include non-disjunction and translocations in the context of Turner’s syndrome, Klinefelter’s syndrome and Down’s syndrome.
#5.1.1g
the role of the genetic counsellor and the ethical issues involved in advising families where a genetic disease has been identified
To include pedigree analysis to predict the probability of genetic disease AND the use of genetic testing.