To the best of my knowledge from many emails back and forth with Pearson and careful review of the spec and PPQ’s so far

C Genetics and health

C1 Gene expression

• Transcription of DNA to RNA, to include reference to role of RNA polymerase.

• Translation and splicing of RNA to produce proteins to include codons, anticodons, introns and exons.

• Hereditary and acquired genetic mutations.

C2 Genetic disorders and diagnosis

• Understand the terms allele, dominant, recessive, genotype, phenotype, heterozygous, homozygous, sex linkage, carrier, affected/sufferer, non-affected/non-sufferer.

• Genetic and chromosomal disorders, to include cystic fibrosis (CF), Huntington’s, Down’s syndrome, haemophilia.

• Characteristics of benign and malignant tumour growth. Characteristics are limited to behaviour on a cellular level or greater.

• Effects of mutations in oncogenes and tumour suppressing genes.

• Interpretation of genetic diagrams, to include familial pedigrees.

• Methods and limitations of obtaining DNA samples, to include swabs and body fluids.

• Diagnostic tests for genetic and chromosomal disorders, to include amniocentesis and chorionic villus sampling, limited to how and when samples are taken and the interpretation of the results in the context of health of the foetus.

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