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Genes and ConSequences – Genebook Worksheet

My Sequence -                                                                                                Patient ____

 

My SEQUENCE

 

My Sequence: TATTGTCTCCCAATAGGACATGGATTGAGGCCACTGGGCACACCAATGAA

5’                                                                                                                            3’

 

My Complement Sequence:

TTCATTGGTGTGCCCAGTGGCCTCAATCCATGTCCTATTGGGAGACAATA

3’                                                                                                                            5’

My TRANSCRIPT

My Transcript (mRNA)

5’ AUAACAGAGGGUUAUCCUGUACCUAACUCCGGUGACCCGUGUGGUUACUU 3’

My AMINO ACID SEQUENCE

My Amino Acid Sequence

ILE THR GLU GLY TYR PRO VAL PRO ASN SER GLY ASP PRO CYS GLY TYR

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My PROTEIN

 

My Patient’s Sequence

5’ TAT TGT CTC CCA ATA GGA CAC TGG ATT GAG GCC ACT GGG CAC ACC AGT GAA                                                                                                                                  3’

My Patient’s Complement

3’ ATA ACA GAG GGT TAT CCT GTG ACC TAA CTC CGG TGA CCC GTG TGG TCA CTT                                                                                                                                    5’

My Patient’s Transcript (mRNA)

5’ AUA UCU GGU UAU CCU GUG UGG AUU CUC CGG ACU GGG CAC ACC AGU GUU                                                                                                                                             3’

My Patient’s Amino Acid Sequence

ILE SER GLY TYR PRO VAL TRP ILE LEU ARG THR GLY HIS THR SER VAL

My Original Amino Acid Sequence

ILE THR GLU GLY TYR PRO VAL PRO ASN SER GLY ASP PRO CYS GLY TYR

 

Protein Name/Type: LAFORIN

 

 

Protein Function: the protein acts on complex carbs to prevent glycogen hyperphosphorylation, thus avoiding the formation of insoluble aggregates.

​

 

My GENE: 

Does this mutation cause disease?

yes

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My GENE

Results of Mutation

Name of the Disease

Lafora

Symptoms of the Disease

Behavioral changes, depression, confusion, and speech difficulties.

 

Treatment

AEDs and Valproic acid

Testing methods

Skin biopsy

Type of mutation: loss of function

 

How will the mutation affect the protein produced?

the patient will make the wrong protein and develop a disease called Lafora.

Does this mutation cause disease?

yes

 

 

Results of Mutation

Name of the Disease

Lafora

Symptoms of the Disease

Behavioral changes, depression, confusion, and speech difficulties.

 

 

 

Treatment

AEDs and Valproic acid

 

Testing methods

Skin biopsy

 

 

Gene Symbol: EMP2A

Gene Name: Laforin

Gene Location: 6q24.3

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POST LAB QUESTIONS:

1. Identify the mutation in each of the three diagrams.

 

            A. insertion mutation

            B. double replacement mutation

            C. insertion

1. During the course of this activity, you performed two BLAST searches.

   1. Do you now feel comfortable with the BLAST search process?

I feel somewhat comfortable, I just need to spend more time learning how to navigate the website.

1. Explain one way that BLAST search data might be used in modern genetic research.

Blast could be used to research a RNA sample and see what disease it causes.

1. What are the benefits of public access databases like NCBI?

Databases like NCBI give the average person access to a large amount of scientific information.

1. How does NCBI help individuals?

The individual could do research on a disease they have or a loved one has so they can be prepared to deal with it.

1. How does it help the advancement of science? Of health care?

it will help science because it serves a digital library for any known genomic disease, and could help the scientists or doctor find a cure.

1. If a company offered to sequence your genome for free, would you choose to have it done? Explain why or why not.

Considering that I did 23 and me a few years ago, I would go for it.

1. Do you think that every sequence change inside a gene causes disease? Why or why not? (Hint: Look at a codon chart.)

I do not think every change in a DNA sequence will cause disease because it may still code for a correct protein. For example, both codons UUU and UUC code for Phe, so it would not be detrimental to the gene created.