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Essay Available:
Pages:
1 page/β‰ˆ275 words
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1 Source
Style:
APA
Subject:
Biological & Biomedical Sciences
Type:
Essay
Language:
English (U.S.)
Document:
MS Word
Date:
Total cost:
$ 4.32
Topic:

Genes and Disease Chromosome Map: Chromosome 4 and Achondroplasia

Essay Instructions:

Instructions :
Using the "Genes and Disease Chromosome Map", choose a disease or condition and identify on which chromosome it is located. Take and upload a screenshot. Briefly describe the screenshot and discuss the features of that disease/condition and what is unique about the chromosome (~150 to 200 words).
Example: The attached screenshot is of Chromosome X and its associated diseases. Fragile X syndrome is located on the X chromosome (called the FMR1 gene). There is a place in the FMR1 gene where the DNA CGG sequence is repeated over and over again. Having more repeats (over 200) changes how the protein is made, which can cause the gene to turn off, leading to the development of Fragile X syndrome. Because it is x-linked, males who have fragile X syndrome can only pass it on to female offspring, while females with fragile X syndrome have a 50% chance of passing it on to either their female or male offspring.

Essay Sample Content Preview:

THE GENES AND DISEASE CHROMOSOME MAP
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The Genes and Disease Chromosome Map
The screenshot shows Chromosome 4 and the associated diseases like achondroplasia. Chromosome 4 contains approximately 1600 genes and approximately 190 million base pairs (National Center for Biotechnology Information, 2022). Achondroplasia is a skeletal dysplasia which causes humans to remain of a short stature, also known as dwarfism. The disorder is caused by a point mutation of a fibroblast growth factor receptor 3 found (FGFR3) in chromosome 4 (McDonald & De Jesus, 2022). There are two possible mutations that can result to the disease: a guanine to adenine base substitution or a guanine to cytosine transversion, which is less common than the latter. Both types of mutations cause the codon change and result in the production of arginine instead of glycine during translation, which causes the activation of the FGFR3, a gene which, when inactive (or does not function), causes the inhibit...
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