Sickle Cell Anemia: Gene, Allele & Symptoms - Essay Sample

Introduction

Which gene is mutated in individuals with sickle-cell anemia, and what is the most common allele? Sickle-cell anemia is caused by a mutation of a gene known as the Hemoglobin-Beta, which is located on chromosome 11. The recessive allele is the most common for sickle cell anemia.

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What are the major symptoms of this disorder? Anemia and fatigue, pain traumas, swelling of feet and hands, ulcers of the leg, congestion of the liver, and the spleen start pooling blood. Arthritis, heart and lung injury, and infections caused by bacteria are the primary symptoms.

Who published the first scientific description of sickle cell anemia? Give the name, the year, and a brief synopsis. James B. Herrick, a physician from Chicago, was the first person to publish sickle cell anemia description back in the year 1910. A man who was said to have traveled to the US from Grenada was the first person to be identified with sickle cell anemia disease. After having been admitted to the Presbyterian

Describe two other features of this disorder. Pooling is one of the features. The pooling of sickle cells occurs in the spleen and leads to decreased hemoglobin in the blood, thus threatening the life of that individual. Acute syndrome of the chest is yet another feature and occurs in instances where the body is experiencing some form of stress, which may be caused by dehydration, fever, or infection.

Chromosome

Exactly how many genes are on chromosome 7? There are 1800 genes found on chromosome 7.

What is the chromosomal location of the CFTR gene? CFTR gene is located on chromosome 7 at q31.2 position on its long arm and from 116907253 to 117095955 base pair.

What are the titles of two recent (within the past year) papers on CFTR? Include the full reference information (using APA formatting) with each paper." Hinge-like protein may open new doors in cystic fibrosis treatment," and the other is "Recent advances and new perspectives in targeting CFTR for therapy of cystic fibrosis and enterotoxin-induced secretory diarrheas."

Exactly how many genes are found on the X chromosome? There are 1400 genes located on chromosome X.

BLAST (Basic Local Alignment Search Tool)

What is the top transcript match to the sequence query? Give the naming information for the result. The top transcript matches the sequence is the Homo sapiens BRCAI, DNA repair associated (BRCA1), transcript variant 1, mRNA. The blast name for the sequence is primates.

For the top alignment indicate the percent identity and the gaps in the match between the query and subject sequences. The percent identity is 100% since its 40/40, and gaps found in the match are 0%.

Using the Related Information links on the right from the top match, identify the chromosomal location that the match is on and describe the function of the gene. The gene is located on chromosome 17. The role of this gene is to function as a tumor suppressor and encode nuclear phosphoprotein.

BLAST searches can also be done using a sequence's accession number, which is the unique identifying number assigned to a sequence before it is entered into the database. Search with the accession number NM_007305.

Describe the top result of your query. The percent identity is 99%, and 4 gaps are identified in the top match out of 3015, which accounts for 0%.

Perform a BLAST using the following accession numbers to determine the likely identity of the query sequences.

NM_001006650. The top alignment is 121 blast hits on 21 sequence subjects. The identities of the sequence are 11210 out of 13556, which is equal to 83%. 200 of 13556 gaps are identified in the sequence, which is equivalent to 1%. The common name of the organism is homo sapiens.

NC_007596(Change Choose Search Set Parameters to Others). The top alignment is 197 blast hits on 100 sequence subjects. The identities are 16770 of 16770, which means identities are 100%, and the gaps are identified to be zero in 16770, giving 0%. The common name of the organism is Mammuthus primigeniusNC_002549.1 (Change Choose Search Set Parameters to Others). The top alignment is 101 blast hits on 1oo sequence subjects. The percent identities of the sequence are 100% and 0% gaps identified. The common name of the organism is the Ebola virus- Mayinga, Zaire, 1976.

What is the top alignment in each search? The top alignment in Blastn is 35 blast hits on 29 sequence subjects while in Blastp is 100 blast hits in 100 sequence subjects.

What are some of the possible reasons for the different results between the two searches? Remember, the same gene query is being used in both. A different result was obtained for the two searches since DNA functionally maintain the encoding information for the protein.

Which result do you think is more accurate? Why? The DNA search. It is so because the conversion of the gene to protein undergoes a complex process. Conversion of protein uses the DNA's information implying that the only accurate search is that of DNA.

How would your results be different if, instead of yeast, you were to use a chimpanzee DNA sequence/protein sequences query against a human DNA database/human protein database? The DNA of humans and that of chimpanzees from researches is approximately 98% similar. Thus, it would need to go through various pre-screening levels, selection, and filtering before it is summarized, discussed, and aligned. Due to the similarity, gaps found in alignment are, in most cases, discarded and non-alignable parts face omission.

References

Figueiredo, M. S., Kerbauy, J., Goncalves, M. S., Arruda, V. R., Saad, S. T. O., Sonata, M. F., ... & Costa, F. F. (1996). Effect of athalassemia and vglobin gene cluster haplotypes on the hematological and clinical features of sicklecell anemia in Brazil. American journal of hematology, 53(2), 72-76. Retrieved from https://onlinelibrary.wiley.com/doi/pdf/10.1002/(SICI)1096-8652(199610)53:2%3C72::AID-AJH3%3E3.0.CO;2-0

Smith, R. L., Trafny, T., & Gomez, M. (2013). The Healing Cell: How the Greatest Revolution in Medical History is Changing Your Life. Center Street. Retrieved from javascript:void(0)

Zhang, W., Fujii, N., & Naren, A. P. (2012). Recent advances and new perspectives in targeting CFTR for therapy of cystic fibrosis and enterotoxin-induced secretory diarrheas. Future medicinal chemistry, 4(3), 329-345. Retrieved from https://www.future-science.com/doi/abs/10.4155/fmc.12.1