Using Bioinformatics to Determine the Trait for Huntington’s Disease (Lab 8)

.docx

School

New Mexico State University *

*We aren’t endorsed by this school

Course

2110L

Subject

Biology

Date

Dec 6, 2023

Type

docx

Pages

Uploaded by JusticeSpider1974

Matthew Ross BIOL 2110L Dr. Marion Using Bioinformatics to Determine the Trait for Huntington’s Disease Abstract This lab aimed to use bioinformatics to determine whether a group of three siblings had the trait for Huntington’s disease. The siblings decided to do this after finding out their mother was tested and diagnosed with Huntington’s disease. It was determined after using gene sequencing, that one of the brothers, Paul, has the trait of Huntington’s disease. Introduction Huntington’s Disease is a brain disorder that can cause uncontrollable movement, emotional problems, and loss of cognitive ability. (Medline Plus, 2020). What causes Huntington’s Disease is a mutation in the HTT gene. This gene is what’s responsible for producing the protein huntingtin. (Medline Plus, 2020). Some symptoms that will develop first will be jerky body movements, loss of cognitive abilities, mood disorders or depression, and incoordination. (Marion et. al., 2018). Since Huntington’s Disease is genetic, the chances of inheriting it solely depend on the parent. With each child that is born to a parent with Huntington’s Disease, there is a 50 percent chance that that child will have the disease. ( Massachusetts Institute of Technology, 2010). The mutated gene responsible for Huntington’s Disease has a sequence known as a trinucleotide repeat. This repeat, CAG, cytosine-adenine- guanine, gets repeated more than the normal amount found in people without the mutated gene. (Marion et. al., 2018). In a person without the mutated gene, this sequence will repeat itself between 10 and 35 times within the gene. With people who have Huntington's disease, this CAG sequence is repeated between 36 and more than 120 times. (Medline Plus, 2020).

The hypothesis of the experiment is that the child of a parent with a dominant genetic disease has a 50% chance of inheriting the disease. Based on this hypothesis, the predicted results based on the three siblings' alleles compared to normal alleles is that since their mother was tested and diagnosed with Huntington’s Disease, there is a 50 percent chance that all three children have the trait for Huntington’s Disease. Methods The task was given to compare Paul, George, and Karen’s HTT gene sequence to a normal sequence of HTT genes. This was done by using the National Center for Biotechnology Information (NCBI) BLAST tool to compare gene sequences to one another. That website is https://blast.ncbi.nlm.nih.gov/Blast.cgi? PROGRAM=blastn&PAGE_TYPE=BlastSearch&LINK_LOC=blasthome. Each of the siblings’ HTT gene sequences was acquired from the Canvas Module page and ran against a normal HTT gene sequence, NM_002111.7. At one at a time, each sibling’s HTT gene sequence was copied and pasted into the bottom box on and BLAST page. After BLASTing the HTT gene sequences against one another, each HTT gene sequence will line up next to the other. To better compare the two, the format was changed to “Pairwise with dots for identities.” This showed any differences in red throughout the HTT gene sequence. This process was done for all three siblings. To determine the about of open reading frames, the NCBI tool ORF Finder was used. The website is, https://www.ncbi.nlm.nih.gov/orffinder/. In the box label, Enter Query Sequence, the accession number, NM_002111.7 was inputted as it’s the number for the normal HTT gene sequence. After loading the new window, information was taken about the ORF, such as the frame number, the length of the frame number, the first and last nucleotide, and the number of

Your preview ends here

Eager to read complete document? Join bartleby learn and gain access to the full version