A-Level Biology Specification

OCR B H422

Section 5.1.1: Patterns of inheritance

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#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.