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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<br><br>You have not stated exactly what is giving you trouble, so I will give a summary of what my approach to answering this question would be.
<br><br>First, you have been given the number and name of a tumour suppressor gene, BARD1, which has been registered with genbank. In case you are not familiar with this, genbank is a huge database of gene sequences which is accessable to scientists (and students) so they can compare genes they have sequenced in their lab (typically for mutated genes) with the normal, unmutated gene sequence or other sequence mutations that have been documented. Protein translations for coding regions are also included in genbank entries. I assume that your professor wants you to learn how to access genbank, which can be found on the web (or perhaps ...
Gene mutations are solved.