PART 2 Goals: Describe features in a DNA sequence that contains a gene. Evaluate

Question

PART 2 Goals: Describe features in a DNA sequence that contains a gene. Evaluate different types of mutations for their potential to cause disease. Case study Four new mutations in the gene CFTR have been associated with a higher risk of developing cystic fibrosis. Three of the mutations are single base changes that map in the transcribed region of the gene, whereas the fourth mutation is a small deletion of 7 base-pairs that maps in the upstream non-transcribedr e marked with a green box) The sequence below represents the part of the sequence of the sense strand of CFTR called coding or non-template strand). Various features of this sequence are indicated on the sequence as well (+1, AUG, introns, stop codon, polyA signal, location of mutations). Below the DNA sequence there is an explanation of some of these features: (also CTGAGAAGCTranscribed sequence (in red type) GAT Un-transcribed sequence (in black type) GCCAACTTC. AATC ATG green boxes magenta boxes mark the identified mutations The The the start of the transcribed area mark the start and stop codon and polyA signal

Explanation / Answer

Gene:

The functional unit of DNA is the gene that is capable to synthesis protein.

Mutation in the given sequence:

Mutation 1:

AATCTCT is the deleted sequence in given DNA sequence

This deleted sequence is present in the un transcribed region of the given sequence.

Deletion of this sequence does not affect the coding sequence of the gene. So mutation 1 has no effect on the gene.

Mutation 2:

CAC- code for histidine

Mutation 3:

CTA – Leucine

Mutation 4:

CCA – Proline

Question:2

Most frequently cystic fibrosis is caused by the loss of single triplet code that code for phenylalanine (F) amino acid.

Question: 3

Sample for genetic test can be got from the blood cells, or scraping the cells gently from inside the mouth.

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