Concept explainers
To analyze:
The given link and study the Fragile X syndrome
Introduction:
Fragile X syndrome-
It is an X- linked dominant inherited disease. The condition is characterized by trouble in learning, developmental problems, and intellectual debility. In X- linked dominant diseases, one copy of mutated allele is enough to cause the disease that is present on the X chromosome.
The trinucleotide repeats:
The DNA- Deoxyribonucleic acid is a double helix structure, comprises three lettered code known as “Codons” or “Trinucleotide repeats”. The disorders that are related to Trinucleotide repeat shows the mutation that exceeds the normal codon repeats per gene or introns, halting the normal functioning of that gene.
In Fragile X syndrome, both genders are equally affected, but the severity can be seen more in males than females. The gene that causes Fragile X syndrome is FMR
Want to see the full answer?
Check out a sample textbook solutionChapter 2 Solutions
Genetic Analysis: An Integrated Approach (3rd Edition)
- if you encounter an unknown disease in humans and would like to understand the genetic mechanism for this disease so that an effective and targetted treatment approach can be developed , what will be the best strategy or steps to accomplish the goal? NB :answer in at most 4 sentences.arrow_forwardAnswer the two parts of the question. a) Explain what gene therapy involves.b) Discuss how gene therapy can be used to treat/cure or prevent a disease and include in your answer any current challenges associated with its use.arrow_forwardBriefly explain this Statement "Treatment for the genetic disorders by using gene therapy " Please answer at your own words, please (400-500 words).arrow_forward
- Go to the NCBI’s website at https://ncbi.nlm.nih.gov On the database dropdown menu, select “Gene” and search for “RB1.” The first entry should be on the Homo sapiens version; click the gene name. Use the information to answer the following: What is the chromosomal location of RB1? Scroll down to the “Expression” data. List 2-3 examples of normal tissues that typically express the RB1 gene. Would you say that RB1 expression is very specific or general within tissues? Scroll down to the “NCBI Reference Sequences (RefSeq)” section. Click on the “GenBank” link under NG_009009.1 RefSeqGene. This will take you to the genomic sequence of RB1. How many nucleotides long is the full-length RB1 gene? Return to the RefSeq section in the Gene Database for RB1 (back click once from where you were for part c). Click on the link under “mRNA and Protein(s)” listed as NM_000321.3. This will take you to the mature mRNA sequence data: How many bases long is the full-length RB1 mRNA transcript? Scroll…arrow_forwardWhat genes are involved in Gaucher disease? Is the sequence of the gene known? Is genetic testing recommended for Gaucher disease? Give typing answer with explanation and conclusionarrow_forwardThink of a possible safety or ethical issue related to genetic engineering and discuss briefly (in 3-5 sentences) why this is a valid concern. Write your answer on the space provided below.arrow_forward
- Topic: Recombinant pharmaceuticals (for the production of insulin, human growth hormone or blood clotting factors) Question Describe the molecular genetics process using proper scientific terminology. Describe the steps that are involved. How is it performed?arrow_forwardAnswer each of the following questions correctly. a. How PCR may be used for the detection of disease–causing pathogens in a population during COVID Pandemic. For example: It may be used to check if a patient has a COVID virus infection. b. How cloning and expression of certain genes allows for massive production of the desired product. For example: the cloning and expression of insulin in bacteria allows for the mass production of this necessary protein for use by diabetic patients.arrow_forwardAnswer the following questions. 1. Explain the steps associated with DNA profiling and state its advantages and disadvantages, 2. Describe how mutations are linked to DNA polymorphism. GUIDELINES: Each answer should be 250 words in length. Content should not be copied. References and bibliography should be provided for the content and images. please asaparrow_forward
- Write and discuss about the analysis procedure used for carrier screening for the single-gene diseases that is routinely conducted in different countries. (Subject: Genetic engineering).arrow_forwardWhat cause of the genetic disease site your sources provide links to the websites to use?arrow_forwardAn individual carries a disease-causing point mutation. Briefly describe four methods that can be used to identify this mutation.arrow_forward
- Human Anatomy & Physiology (11th Edition)BiologyISBN:9780134580999Author:Elaine N. Marieb, Katja N. HoehnPublisher:PEARSONBiology 2eBiologyISBN:9781947172517Author:Matthew Douglas, Jung Choi, Mary Ann ClarkPublisher:OpenStaxAnatomy & PhysiologyBiologyISBN:9781259398629Author:McKinley, Michael P., O'loughlin, Valerie Dean, Bidle, Theresa StouterPublisher:Mcgraw Hill Education,
- Molecular Biology of the Cell (Sixth Edition)BiologyISBN:9780815344322Author:Bruce Alberts, Alexander D. Johnson, Julian Lewis, David Morgan, Martin Raff, Keith Roberts, Peter WalterPublisher:W. W. Norton & CompanyLaboratory Manual For Human Anatomy & PhysiologyBiologyISBN:9781260159363Author:Martin, Terry R., Prentice-craver, CynthiaPublisher:McGraw-Hill Publishing Co.Inquiry Into Life (16th Edition)BiologyISBN:9781260231700Author:Sylvia S. Mader, Michael WindelspechtPublisher:McGraw Hill Education