Report the position of the mutation that the PCR reaction wi

Report the position of the mutation that the PCR reaction will detect. Describe which base is the one commonly found (also called wild-type) in the unaffected population and what it is changed to in people with CF. Explain where in the gene sequence this mutation is located and what is the predicted effect of having this mutation.   Use the +1 position as a reference for counting bases.

Project 1 Part of the CFTR gene sequence NOTE-make sure you print or view this page in color! 5 GAT(GCCGT AGA ACTOGAALACCAACTG AATGGAGIGAT CTCGATCAAGccGGAGcTTCTCTTAALACTTCGATTTCGAC GTGAALAGAAACTTACTTTGATTGccACATTGGcccAMTTGAAGGG TTATAAT cTCGCTGGGCAT TTTGCTCGAATTGCAGTTTAGTTAALATTTcGCTTCTTTC TCAGTAAATAATA ACTGTGCATCGAAG GcCAACTGGAGATGGAAGTGGAA GTCATTAATATCGATATACAAGAAGTACAATACAACAGTAAGTTATTACC TAT TTTTCTTTACTAATCTTTATGATTTATTTAATGTTATTGGACTTATA GAAAAATACTTAGAATTAAGATTTGATCCATTTTTTTTTTAAATATTTAGG TTCARAATAAATTAGCCATAGTTATATATTTTTTATGTTTTCATTTACATA AAACATTAACTGTTATTTTTTTAAATTTAAAGGACTAGCTTTTTCAATTG ACAGCACACCcTGTGGCTGCGAGTAMcGGTTCTCGGGAGIC GTTATTTT +1 CTG GCAA CGTGCACACTGGCAGGCTGAT GCAAATGITTATGTACAAATATTGAATAAALAALA ATG TG GAGA ACTTGGCAGCCANCT TCT(GCGGTCTc CT GGCCAGCCAGGGCTATAA AATCGCAGAGAAGGCAAACGAGTGGcGcATTTTGGGcCAGGAACAGGA. TGGATC TCTGCTCACG TCCTC TATTCGAGIACGC GGACGAGGATCAG GCAAGGAGACGTGCATTGGcCACTTTCACGCCACCAAGAAGCAGCTGCG CTC CTTTGGAccCTCGACAATTGc cGTGAGAT CGTC CAGGCAACGATTAA CAGCAGTGTCACAT IGCTGTcCTTC GTG GAGAAAALACTGAGGGCAAGCTC ATC AGGccTTTGTCGIGGAGGSTAAGGAGCTCCGAA GGTGGCACGGCCAC Tc ccT cCAACCGCCAGATGAT TT GcGCGTCGAGAGTGcCACGCGCACcTGCTGGCAGGACAAGCTACTGGTG TC ACCCACGAGGAATGTAGGTGTCATGTATATGTCATTATCCACCTC CTAN CTCCCATGcTCGTAccTGT TTTTT CTAGCCATCAAGCAGTACAGCTGCG GGTCAAGCAGAGCTCCACCACATGCTCGACTG GCGG AGGCGAGGGCAGC CCT CTAGACACCAGCATACTGAccTACGAA.ACGCTGGCCAGGALAC TTTAG CTGGGCCCAGIGGGATCccGAGTGCCAGGCT CTTTATTACATTCA CTT CG AAGGccAAGAGCCTCAGTCTGCTGGACGAGAGGGAGGAG CTG GCGAGCAGACANC TCCT ACTT TAAGCCCCACGC TCTcCGCCTTTCAG TTTA CAATAAA GCCAACGGAAACAGTGGTAGGTACTTAAAGATTAAA TGACTG TAGCGTT AGGIccTGTTCATTGGTACccTTTA\' TGAGTTAALATTCAA AccCACGGACATGCTAAGGGTTAATAAALACAATCATATcGCTGTCTC Concepts in Biology Mutation AATCTC Deleted bases in some patients Mutation 2 changed to A in some patients Mutation 3 in some patients Mutation 4 changed to C in some patients

Solution

The gene for CF-Cystic Fibrosis is known as Cystic Fibrosis Transmembrane conductance Regulator- CFTR, more than 1000 mutations are seen than lead to cystic fibrosis.

AATCTCT bases are deleted for the sequence which leads to muation and causes cystic fibrosis. This is frameshift deletion mutation.

10 th base G starting from +1 position is changed to A.
There are silent muation where one base have been changed G to A and C to T or G to C

Starting from 122th psotion from +1 position the mutation has been detected.
CCA is chaged to CTA- amino acid will be changd from proline to leucine.
All pink highlighted ones TAA are stop codons so if their mutation occurs a different protein will be synthesized. So for a nomal person this codons are not found so frequently.When there is no mutation the CFTR gene sites in the membrane of cell and regulates the movement of chloride ion in and out of that cell.