1. Biology
2. Genetics
3. 14977

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A student in a molecular genetics lab is using the SSCP technique to analyze DNA from breast cancer tumours, and has identified five different shifts in fragments of the BARD1 gene. (BARD1 [genbank accession number NM_000465] is a tumour suppressor gene, mutations in which are associated with breast cancer.) Partial sequences from those shifted bands are given below; for each, describe what type of mutation has occurred (e.g.. transition, etc.), the molecular consequences of the mutations (i.e. what happens to the protein), and whether they are likely to be benign polymorphisms or deleterious mutations. (N.B. Sequences are 5' -> 3' for the coding strand, given in triplets, numbers corresponding to the genbank sequence)
(a) 269-tgt gag cac atc ttc tgt agt aat tgt gta agt gac tgc att gga act gga tga cca gtg tgt tac acc
(b) 944-act aag aga gga atg aag tag tga ctc ctg aga agg tct gca aaa att atc tta cat cta aga aat ctt
(c) 971-cct gag aag gtc tgc aaa aat tat ctt aca tct aag aat tct ttg cca tta gaa aat aat gga aaa cgt
(d) 1994-cga aga aaa gta cgt gaa cag gaa gaa aag tat gaa att cct gaa ggt cca cgc aga agc agg ctc
(e) 2225-aat aca gtc gca tac cat gcg aga ccc gat tct gat cag cgc ttc tgc aca cag tat atc gtc tat gaa

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