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EN

Region of the lactase gene

Beneficial Genetic Mutations

1.  Lactose persistence (mutation in the enhancer region of the lactase gene)

1.A diagram and description of the locus of your gene – This refers to the chromosome on which your chosen gene is located, and the exact location of the gene on that chromosome (it’s like the mailing address of the gene).  An efficient way to find this information is to search “<gene name> gene locus”, and then look for the Gene Cards link to your gene.

2.An illustration or description of the transcription and translation of the faulty gene – Please do not try to show the exact nucleotide sequence of your entire gene– they are way too long!  Just show a symbolic representation of that gene, or a description of the mutated portion of the gene, and the subsequent changed protein product.

3.Describe the changed protein product and the physical effects of that change.  For some of these mutations, the result is that a protein is NOT produced, so what you’ll need to do is show the process of transcription/translation for the normal protein, and then describe the clinical results of that protein being ABSENT.

4.To check yourself on #3, make sure you describe the effects of the mutation on the

a.Cellular level

b.Tissue/organ level

c.Overall organism level (i.e. how it outwardly affects how individuals feel and function)

d.How the effects are treated (if treatable at all) and if the mutation affects life expectancy.

5.Also include a description of how that mutated gene is inherited and expressed in the person who has the condition.

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