6. Mutation analysis of GCK gene in patients with diabetesrevealed a c.114 TàA (shown in bold and underlined)substitution in heterozygote state. In order to check themutation in healthy individuals, restriction enzymeanalysis will be used.a) (5p) Which enzyme can we use to differentiate wildtype and mutant sequence? Please indicate which allele(wild type or mutant allele) will be cut with therestriction enzyme. Use table 1 shown below.b) (10p) Draw the expected agarose gel result of ahomozygous wild type, homozygous mutant andheterozygote individual after restriction enzymeanalysis.ATGAGGCTCTTTGCCACCAGTCCCAGTTTTATGCATGGCAGCTCTAATGACAGGATGGTCACCCCTGCTGAGGCCACTCCTGGTCACCATGACAACCACAGGCCCTCTCAGTATCACAGTAAGCCCTGGCAGGAGAATCCCCCACTCCACACCTGGCTGGAGCACGAAATGCCGAGCGGCGCCTGAGCCCCAGGGAAGCAGGCTAGGATGTGAFigure 1. GCK gene sequence. Length of the fragment is213bp.Table1. The restriction enzymes and their recognitionsequences.Restriction enzyme|Recognition sequenceGG/CGCCNar IDde I|C/TNAGNGCGC/n|CC/GGHae IIIHpall|AlulAG/CTCCC/GGGSmalMbol/GATCМae III/GTNAC|Bsp 1286 IHind IIIEcoR IGNGCN/CA/AGCTTG/AATTCn: any nucleotide: cutting site

Name: 6. Mutation analysis of GCK gene in patients with diabetesrevealed a
Uploaded: 2024-03-20T06:42:55.000Z
Channel: Bartleby
Description: 6. Mutation analysis of GCK gene in patients with diabetesrevealed a c.114 TàA (shown in bold and underlined)substitution in heterozygote state. In order to check themutation in healthy individuals, restriction enzymeanalysis will be used.a) (5p) Wh

Restriction enzyme are this enzymes which can cut the DNA into fragments.

Science

Biology

6. Mutation analysis of GCK gene in patients with diabetes revealed a c.114 TàA (shown in bold and underlined) substitution in heterozygote state. In order to check the mutation in healthy individuals, restriction enzyme analysis will be used. a) (5p) Which enzyme can we use to differentiate wild type and mutant sequence? Please indicate which allele (wild type or mutant allele) will be cut with the restriction enzyme. Use table 1 shown below. b) (10p) Draw the expected agarose gel result of a homozygous wild type, homozygous mutant and heterozygote individual after restriction enzyme analysis. A TGA

6. Mutation analysis of GCK gene in patients with diabetes revealed a c.114 TàA (shown in bold and underlined) substitution in heterozygote state. In order to check the mutation in healthy individuals, restriction enzyme analysis will be used. a) (5p) Which enzyme can we use to differentiate wild type and mutant sequence? Please indicate which allele (wild type or mutant allele) will be cut with the restriction enzyme. Use table 1 shown below. b) (10p) Draw the expected agarose gel result of a homozygous wild type, homozygous mutant and heterozygote individual after restriction enzyme analysis. A TGA

Biology: The Dynamic Science (MindTap Course List)

4th Edition

ISBN:9781305389892

Author:Peter J. Russell, Paul E. Hertz, Beverly McMillan

Publisher:Peter J. Russell, Paul E. Hertz, Beverly McMillan

Chapter15: From Dna To Protein

Section: Chapter Questions

Problem 15TYK

See similar textbooks

Similar questions

6a. Given the following mutated sequence (with respect to the normal sequence), what TYPE of mutation occurred: AAGCTTAC
6a. Given the following mutated sequence (with respect to the normal sequence), what TYPE of mutation occurred: AAGCTTAC 6b. Where did the mutation take place?
8a. Given the following mutated sequence (with respect to the normal sequence), what TYPE of mutation occurred: AAACGTTAC 8b. Where did the mutation take place?
7a. Given the following mutated sequence (with respect to the normal sequence), what TYPE of mutation occurred: AAGCCGTTAC 7b. Where did the mutation take place?
Q-)Silent mutations that occur in DNA are quite common in living cells and usually involve no effects onphenotype. In not more than 2 pages (using 1.5 line space of Arial or Times New Roman fonts) provideanswers for the following questions? A) Provide one example of a clinical implication of a “silent mutation” that proven to have an effect onthe phenotype and provide a brief description of its molecular characteristics?
0. Indicate which of the four major classes of rearrangements (deletions, duplications, inversions, and translocations) are most likely to be associated with each of thefollowing phenomena. In each case, explain the effect.a. semisterilityb. lethalityc. vulnerability to mutation
1. What happen to the mutated sequence in the coding region of MT-ATP6 in Leigh's syndrome. Does it lead to amino acids substitution? Illustrate the process
To determine the reproducibility of mutation fre-quency measurements, you do the following experiment.You inoculate each of 10 cultures with a single E. coli bac-terium, allow the cultures to grow until each contains 106cells, and then measure the number of cells in each culturethat carry a mutation in your gene of interest. You were sosurprised by the initial results that you repeated the experi-ment to confirm them. Both sets of results display the sameextreme variability, as shown in Table Q5–1. Assuming thatthe rate of mutation is constant, why do you suppose thereis so much variation in the frequencies of mutant cells indifferent cultures?
4. A recent estimate of the rate of base substitutions atSNP loci is about 1 × 10−8 per nucleotide pair pergamete.a. Based on this estimate, about how many de novomutations (that is, mutations not found in the genomes of your parents) are present in your own genome?b. Where and when did these de novo mutations inyour genome most likely occur?
4. You can carry out matings between an Hfr and F−strain by mixing the two cell types in a small patch ona plate and then replica plating to selective medium.This methodology was used to screen hundreds of different cells for a recombination-deficient recA− mutant. Why is this an assay for RecA function? Wouldyou be screening for a recA− mutation in the F− or Hfrstrain using this protocol? Explain.
1. Below is the base sequence of protein for normal hemoglobin and the base sequence for the sickle cell hemoglobin:Normal: GGG CTT CTT TTTSickle: GGG CAT CTT TTTa. Transcribe and translate the normal and sickle cell DNA. b. Identify this as a point or frameshift mutation. Explain. c. If the base sequence read GGG CTT CTT AAA instead, would this result in sickle cell hemoglobin? Explain.
8. As explained in the text, the cause of many geneticdiseases cannot yet be discerned by analyzing wholeexome/genome sequences. But in some of theseseemingly intractable cases, important clues can beobtained by looking at mRNAs or proteins, ratherthan at the DNA.a. As you will see in more detail in later chapters, it ispossible to use single-molecule methods to sequence cDNA copies of millions of mRNA molecules from any particular tissue cheaply. Howcould you sometimes use such information to finda disease gene? When would this information benoninformative?b. A technique called Western blotting allows you toexamine any protein for which you have an antibody; it is possible to see differences in size oramount of that protein. How could you sometimesuse such information to find a disease gene? Whenwould this information be noninformative?