Genetic Analysis: An Integrated Approach (3rd Edition)
3rd Edition
ISBN: 9780134605173
Author: Mark F. Sanders, John L. Bowman
Publisher: PEARSON
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Chapter B, Problem 11P
The most common reason a physician might recommend that a woman have maternal serum screening and a karyotype analysis is concern that her fetusmay have Down syndrome. Log on to the OMIM website at
a. List the main symptoms of Down syndrome.
b. Look at the “Mapping” and “Molecular Genetics” sections and describe what is meant by Down syndrome critical region (DSCR).
c. Summarize what is known about the location and genes found within the
d. How might those genes lead to the main symptoms of Down syndrome?
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match the following about Genetic testing and Screeningprompts: genetic testing, genetic screening, genetic screening programs, Genetic screening opportunities, A test with high sensitivity, A test with high specificity, Predictive tests, Pre-symptomatic tests, Predispositional tests.Answers: - indicate the presence of a causative genotype but the onset of signs and symptoms is not certain.- involves testing individuals for the genetic change underlying a condition for which there is no evidence. - is preformed cases where the onset of signs and symptoms is considered inevitable. - are offered as part of our public health service.- can show that an individual is more likely than others to develop a specified condition.- do not include conditions that show incomplete penetrance.- has a low false positive rate.- has a low false negative rate. - involves testing individuals for the genetic change underlying a condition for which there is evidence.
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?
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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?
Chapter B Solutions
Genetic Analysis: An Integrated Approach (3rd Edition)
Ch. B - Prob. 1PCh. B - Prob. 2PCh. B - B.3 Log on to the National Institute for Child...Ch. B - B.4 What communitybased genetic screening...Ch. B - B.5 Describe the gene and protein defects in...Ch. B - B.6 A couple and some of their relatives are...Ch. B - Prob. 7PCh. B - Do you think it is important that participation in...Ch. B - B.9 If a man and a woman are each heterozygous...Ch. B - B.10 Suppose a man and a woman are each...
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Need a deep-dive on the concept behind this application? Look no further. Learn more about this topic, biology and related others by exploring similar questions and additional content below.Similar questions
- 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_forwardExplain the following diagram. It refers to a pedigree on the disease called phenylketonuria. Briefly explain about the disease; include biochemical and genetic aspects. Then interpret the pedigree. Say what type of inheritance the condition exhibits.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_forward
- Define the noninvasive prenatal genetic diagnosis (NIPGD) technique ?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_forwardMatch the following : Genetic testing Genetic screening Genetic screening programs Genetic screening opportunities A test with high senstivity A test with high specificity predictive tests Pre- symptomatic tests Pre dispositional test involves testing individuals for the genetic change underlying a condition for which there is no evidence. can show that an individual is more likely than others to develop a specified condition. indicate the presence of a causative genotype but the onset of signs and symptoms is not certain. are offered as part of our public health service. do not include conditions that show incomplete penetrance. is performed cases where the onset of signs and symptoms is considered inevitable. involves testing individuals for the genetic change underlying a condition for which there is evidence. has a low false positive rate has a low false negative ratearrow_forward
- a. It is possible to perform DNA fingerprinting withSNPs instead of SSRs as DNA markers, but ingeneral you would need to examine more SNPmarkers than the 13 SSRs used in the CODIS database to be sure of a match. Explain why.b. DNA fingerprinting has been used to verify pedigrees of valuable animals such as show dogs, racinggreyhounds, and thoroughbred horses. However, thetechnology is much harder to apply in these casesthan it is in forensic applications for humans. In particular, many more DNA markers must be examinedin domesticated animals to establish the identity orclose familial relationship of two DNA samples.Why would you need to look at more polymorphicloci in these animals than you would in humans?arrow_forwardWhat is a molecular marker? Give two examples. Discuss why it isgenerally easier to locate and map molecular markers rather thanfunctional genes.arrow_forwardFollow these directions to access the entries for PTGS1 and PTGS2 in the “Gene” database at the NCBI Website:A. First, go to the NCBI homepage using the link on the lab webpage, or by going to: http://www.ncbi.nlm.nih.gov Select “Gene” from the database pulldown menu. Type “PTGS” in the search box, then click “Go.” Scan the results for the “Homo sapiens” entries. There should be one called “PTGS1” and one called “PTGS2.” Select each entry by clicking on its name, then read the paragraph under the “Summary” section for each entry. The drug Celebrex selectively inhibits PTGS2 while aspirin and other NSAID’s inhibit both PTGS1 and PTGS2 in the same way. Why do you think researchers wanted to discover a selective inhibitor to PTGS2? 2. Describe how studying 3-D structures of PTGS1 and PTGS2 could help researchers design a drug that binds to PTGS1, but not to PTGS2.arrow_forward
- Give a schematic diagram of how we can Treatment Thalassemia by using gene therapy? Please answer at your own words,please..arrow_forwardRead the linked policy from the Canadian Pediatric Society. Describe some of the guidelines that are in place to help people understand and make decisions about genetic testing. http://www.cps.ca/documents/position/guidelines-for-genetic-testing-of-healthy-childrenarrow_forwardCap, EA1, and Sap are all genes/proteins of interest in this study. For each gene, what gene product is encoded and where is the gene (the literal DNA sequence) located physically in the cell? I need help fimiding this in the artticle and answer as short as possible https://www.ncbi.nlm.nih.gov/pmc/articles/PMC106848/arrow_forward
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