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Cystic Fibrosis and Point Mutations

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If both parents must have a point mutation in their CF genes in order to create a child with CF, how common do you think the disease is in the population? Explain.

Why do you think another mistake doesn't just "correct" the mutation in an abnormal CF gene? What do you think the chances of this occurring would be? Compare this likelihood to the chance of some other event happening.

What other diseases are thought to be caused by point mutations? What do point mutations do in those diseases?

If you discovered through genetic testing that your best friend's child had CF, what advice would you give your friend about treatments? What about resources your friend might find useful?

Using what you know about point mutations and their potential effects, explain why it might be extremely risky for pregnant women to expose themselves to mutagens (things that cause mutations) during pregnancy. How can we determine a safe level of exposure?

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Cystic fibrosis is an autosomal recessive disease, which means to have cystic fibrosis you must carry two copies of the gene. While you may think this would make it a rare disease, it is actually very common. About 30,000 children and adults have cystic fibrosis and it is estimated that about 10 to 12 million Americans are carriers. Every year there are about 2,500 babies born with cystic fibrosis in the U.S.

The most likely reason that this disease is so common is that there are about 1,400 different mutations that can occur in this one gene can cause cystic fibrosis.

Mistakes can cause reading errors in DNA, making some proteins inactive and others active, which can lead to some serious problems, like cystic fibrosis. The rate at which mutations occur can vary according to species and the location of genes in the genome. Reversions, a ...

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This solution contains detailed information on cystic fibrosis, point mutations, and pregnancy risks when exposed to mutagens. There are also several links included that contain much more information, if it is necessary.

See Also This Related BrainMass Solution

Genetics (DNA, Mutations, Cell Division, Protein Synthesis)

Complete all three parts and answer all questions. Remember to turn in Punnett Square for Part 2.

Part 1: Genetics â?" From Genes to Proteins, Mutations (Chapter 10)

Overview: Genetic information in DNA is transcribed to RNA and then translated into the amino acid sequence of a Protein.

A) Step 1 - Transcription: During the process of transcription, the information in the DNA codons of a gene is transcribed into RNA.

Suppose that gene X has the DNA base sequence 3â??-TACCCTTTAGTAGCCACT-5â??.

Question: What would be the base sequence of RNA after transcription occurs? Turn this in.

(In this particular example, assume that the RNA product does not require processing to become mRNA. In other words, the transcribed RNA becomes the mRNA sequence.)

B) Step 2 - Translation: During protein synthesis at the ribosome, the base sequence of the mRNA codons is translated to the amino acid sequence of a protein.

Question: Using the mRNA that you transcribed above, use the genetic code table to determine the resulting amino acid sequence. Turn this in.

And, turn in the answer to these questions:

What is the significance of the first and last codons? What meaning do these codons have for protein synthesis?

C) Mutations: A mutation is defined as a change in the base sequence of DNA. This may occur as a â??mistakeâ? in DNA replication, for example.

Suppose that during DNA replication, two mutant DNA sequences are produced as shown below.

For the 2 mutated DNA sequences, you will investigate how these changes might affect the sequence of amino acids in a protein.

Question: For each of the two, you will need to first transcribe the mRNA, and then use the genetic code table to determine the amino acid sequence.

Turn these in, and state whether the protein sequence changes for each.

Question: Then, explain why a change in amino acid sequence might affect protein function. Turn in your answer.

Here is the original sequence, followed by two mutated sequences, 1 and 2:

Original sequence 3'- TACCCTTTAGTAGCCACT-5â??

Mutated sequence 1) 3â??-TACGCTTTAGTAGCCATT-5'

Mutated sequence 2) 3â??-TAACCTTTACTAGGCACT-5â??.

Part 2: Inheritance of Traits or Genetic Disorders (Chapter 12)

Bob and Sally recently married. Upon deciding to plan a family, both Sally and Bob find out that they are both heterozygous for cystic fibrosis, but neither of them has symptoms of the disorder.

Set up and complete a Punnett Square for cystic fibrosis for this couple; turn in the Punnett square.

When doing the Punnett Square, C = normal allele; and c = allele for cystic fibrosis.

Note: You can use the Table function in MS Word to create and fill in a Punnett Square.


Based on the Punnett square, calculate chances (percentages) for having a healthy child (not a carrier), a child that is a carrier for the cystic fibrosis trait, and a child with cystic fibrosis? Turn in these percentages.

Part 3: Cell division, sexual reproduction and genetic variability (Chapter 11)

Eukaryotic cells can divide by mitosis or meiosis. In humans, mitosis produces new cells for growth and repair; meiosis produces sex cells (gametes) called sperm and eggs.

Although mutations are the ultimate source of genetic variability, both meiosis and sexual reproduction also can contribute to new genetic combinations in offspring.

Question: How do both meiosis and sexual reproduction (fertilization) produce offspring that differ genetically from the parents? Be sure to talk about steps in meiosis that increase variability as well as the process of fertilization.

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