The consensus sequence on exon 4 of the multiple endocrine neoplasia type 1 gene is given below. Using the NCBI BLAST tool from the website (http://blast.ncbi.nlm.nih.gov/Blast.cgi).
1) find the type of mutations ( it can either be a frameshift or missense mutation) that occurs in the sequence explaining why you think so and highlight the nucleotide that alters the codon from the consensus sequence and from the result originated by BLAST where the mutation occurs.
Clue: There might be a heterozygous frameshift mutation at codon 229 which stops menin synthesis at the 231 amino acid. The missense mutation might also be present and it is seen at c.776T>C and it substitute leucine (CTG) by proline (CCG) at codon 259.
2) Find any single nucleotide polymorphism (SNP) if present in the consensus sequence using the NCBI BLAST tool for SNP. You need to highlight the nucleotide that alters the codon that has the SNP from the result generated by the BLAST tool and within the consensus sequence. Identify the nucleotide position in the consensus strand Explain the significance of the SNP in the gene.
The use of jourals are needed and referenced using the Harvard reference system.
The consensus sequence is as follow.
FOR MORE INFORMATION ON THE TOPIC VISIT
No comments:
Post a Comment