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
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Genetic Analysis: An Integrated Approach (3rd Edition)
- Use keyboard only to enter your answer below. ALL WORKING MUST BE SHOWN Problem 1) mutation in a gene on chromosome 15 that codes for an enzyme. The disease is an inherited autosomal recessive condition which is Tay-Sachs disease is caused by loss of function found amongst Ashkenazi Jews of Central European origin. In this population, 3 in 5,200 children are born with the disease. What proportion of the population are carriers (heterozygotes) for this disease?arrow_forwardif 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_forward
- Complete the sentence: The end result of a gene going through the central dogma of biology in any organism is to create:arrow_forwardWe often speak of diseases such as phenylketonuria (PKU) andachondroplasia as having a genetic basis. Explain whether the followingstatements are accurate with regard to the genetic basis ofany human disease (not just PKU and achondroplasia).A. An individual must inherit two copies of a mutant allele to havedisease symptoms.B. A genetic predisposition means that an individual has inheritedone or more alleles that make it more likely that she or he willdevelop disease symptoms than other individuals in a populationwill.C. A genetic predisposition to develop a disease may be passedfrom parents to offspring.D. The genetic basis for a disease is always more important thanthe environment.arrow_forwardAnalyze the text and answer the following. •Title of the text: •Kind of Text: •Important Terminologies used in the text: •Observations about the language used in the text: •Observation about the text structure: •Main Topic of the Text: Supporting details and information: •Summary of the text:arrow_forward
- Answer the given situation below; a. Bob says that he is healthy and has no genetic diseases such as hemophilia or Down syndrome. Therefore, he says, genetics plays little role in his life. Why do you think Bob is incorrect in his conclusion? Explain your answer.arrow_forwardWatch the following video called "Human Genome Project Video" (https://fod.infobase.com/OnDemandEmbed.aspx?lti=1&token=30037&wID=97629&loid=0&w=400&h=300) then answer the following question in one paragraph each with evidence from the film to support your answers. 5) Answer in one paragraph and using the video provided to answer the following: There are companies now allowing people to clone their deceased pets. How do you feel about this? What are some good points and bad points to this service provided by some companies in your mind? 6) Answer in one paragraph and using the video provided to answer the following: There is rumor that humans are being cloned in other areas of the world. What ethical considerations can you think of that could be a problem with this type of medical experimentation? What is your opinion?arrow_forwardGo 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_forward
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