Collect, record and present data to represent frequencies of characteristics in a population, in order to identify trends, patterns, relationships and limitations in data, for example:

• Examining frequency data
• Analysing single nucleotide polymorphism (SNP)

Single Nucleotide Polymorphism:

• Single Nucleotide Polymorphism (SNP) is a variation in a nucleotide in a specific gene that can occur in a certain population at a certain extent.
• For example, in a specific nucleotide sequence in a specific position, normally a C would occur. But, in some individuals, the C is replaced by a thus, that position has an SNP and a possibility of having either C or A in that position.
• SNPs occur more frequently in non-coding regions rather than coding regions as a result of which, they are mostly unnoticeable.
• In populations, frequency of SNPs can vary from population to population.
• Examples of SNPs include:
  • rs6311 and rs6313 are SNPs in the Serotonin 5-HT2A receptor gene on human chromosome 13.
  • A SNP in the F5 gene causes Factor V Leiden thrombophilia.
  • rs3091244 is an example of a triallelic SNP in the CRP gene on human chromosome 1.
  • TAS2R38 codes for PTC tasting ability, and contains 6 annotated SNPs.
  • rs148649884 and rs138055828 in the FCN1 gene encoding M-ficolin crippled the ligand-binding capability of the recombinant M-ficolin.
  • An intronic SNP in DNA mismatch repair gene PMS2 (rs1059060, Ser775Asn) is associated with increased sperm DNA damage and risk of male infertility.

Extract from HSC Biology Stage 6 Syllabus. © 2017 Board of Studies NSW.