3. Go to the NCBI website

3. Go to the NCBI website (www.ncbi.nlm.nih.gov) and search the Gene database for “Homo sapiens FANCG”. Make use of the information provided in the ‘RefSeg transcripts’, ‘RefSeq proteins’ and ‘RefSeqGene’ links to answer the questions below.

a) Provide the chromosomal location of this gene. [1]

b) What is the accession number for the FANCG gene? [1]

c) What is the sizes in bp of each of the following: [3]

 The full-length FANCG gene

 The FANCG mRNA

 The protein coding region (coding sequence) of the FANCG gene

d) Copy and paste the FANCG mRNA sequence. Identify the regions representing the 5’ UTR, the protein coding region, and the 3’ UTR respectively, and highlight them in three different colours directly on the sequence. [3]

e) The 7 bp pathogenic deletion common in the SA population involves the bases TACCGCC. On which one of the 14 exons does the deletion occur? [1] f) Copy and paste the nucleotide sequence of the exon identified in (e), and highlight the 7 bp deletion in yellow. [1]

g) What type of mutation will this deletion cause? Motivate your answer. [2]

4. The sequence below represents bp 7561-8040 of the FANCG gene. It includes the exon containing the taccgcc sequence (in red) which is deleted in mutant copies of the gene in FA patients. You now plan to amplify only the 360 bp region of this gene which is highlighted in grey via a polymerase chain reaction (PCR).

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