1. Chromosome 1
2. Over 3000 genes
3. Over 240 million base pairs
4. GLC1A – Glaucoma
5. Pressure regulation in the back chamber of the eye, but when mutation occurs it stops
vitreous humor outflow causing pressure increase which can damage the optic nerve
and lead to blindness.
6. Homo sapiens CFTR (CFTR) gene, partial cds
7. The encoded protein functions as a chloride channel, making it unique among members
of this protein family, and controls ion and water secretion and absorption in epithelial
tissues.
8. Cystic fibrosis
9. 7
10. Pongo abelii
11. Sumatran Orangutan
12. It does not surprise me because evolutionary sciences do tie this species and homo
sapiens which we can also see has a 100% identity match.
13.
a. Nomascus, N. leucogenys
b. Northern white-cheeked gibbon
c. 0/120 (0%)
14. A gap is the absence of a region that can be found in another sequence (Barton, 2015).
15. Mus musculus TAR DNA binding protein (Tardbp), transcript variant 1, mRNA
16. Homo sapiens ubiquilin 2 (UBQLN2), mRNA
17. Homo sapiens FUS RNA binding protein (FUS), transcript variant 2, non-coding RNA
18. Homo sapiens superoxide dismutase-1 (SOD-1) gene, exon 1 and partial cds
19. Amyotrophic lateral sclerosis (ALS), The common name is Lou Gehrig’s disease after a
famous baseball player who died from ALS (Barmada, 2010)
20. A genetic sequence database run by the National Institute of Health (NIH). It uses all
publicly available DNA sequences.
21. Synthetic DNA that has been transcribed from a specific mRNA through a reaction using
reverse transcriptase (Shchelochkov, 2023).
22. Beta-globin [Homo sapiens]
23. Yes
24. In Query 361 there is a gap in the middle of the sequence in the middle line. This causes
a different letter to be present in the top and bottom lines.
25. 1/806 (0%)
26. fibroblast growth factor receptor 3 isoform 1 precursor [Homo sapiens]
27. This particular family member binds acidic and basic fibroblast growth hormone and
plays a role in bone development and maintenance.
28. Craniosynostosis
29. Between the four organizations they are tasked with gathering, storing, and presenting
biomedical information. They work in unison to make dealing with this amount of
information possible.

30. I did not know that there were public databases that could be used to evaluate DNA.
That seems like a very complex system that only scientists could benefit from, but this
assignment still made it possible to understand surface level connections in different
species.

References:
Barton, C., Flouri, T., Iliopoulos, C. S., Pissis, S. (2015, March 17). Global and local sequence
alignment with a bounded number of gaps. Theoretical Computer Science.
https://www.sciencedirect.com/science/article/pii/S0304397515002200#:~:text=A%20ga
p%20in%20a%20biological,occurring%20feature%20of%20biological%20sequences

Barmada, S. J., Finkbeiner, S. (2010). Pathogenic TARDBP mutations in amyotrophic lateral
sclerosis and frontotemporal dementia: disease-associated pathways. National library of
medicine, 21(4), 72-251. https://doi:10.1515/revneuro.2010.21.4.251

Shchelochkov, O. A. (2023). CDNA (COPY DNA). National Human Genome Research Institute.
https://www.genome.gov/genetics-glossary/Copy-DNA