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Ch. 16 - Genomics: Genetics from a Whole-Genome Perspective
Sanders - Genetic Analysis: An Integrated Approach 3rd Edition
Sanders3rd EditionGenetic Analysis: An Integrated ApproachISBN: 9780135564172Not the one you use?Change textbook
All textbooksSanders 3rd EditionCh. 16 - Genomics: Genetics from a Whole-Genome PerspectiveProblem B.14c
Chapter 16, Problem B.14c

Select one of the hereditary conditions from either the RUSP core conditions list or the RUSP list of secondary conditions and do some online research to find the following information:
The symptoms and consequences of the condition if it is not treated.

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1
Identify a hereditary condition from the Recommended Uniform Screening Panel (RUSP) core or secondary conditions list. These are genetic disorders commonly screened for in newborns.
Research the selected condition using reliable genetics and medical resources such as genetics databases, medical journals, or trusted health websites to gather detailed information.
Focus on understanding the symptoms that manifest in individuals affected by the condition, especially those that appear if the condition remains untreated.
Investigate the potential consequences or complications that can arise from the untreated condition, including impacts on development, organ function, or overall health.
Summarize the findings clearly, emphasizing the importance of early detection and treatment to prevent or mitigate these symptoms and consequences.

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Key Concepts

Here are the essential concepts you must grasp in order to answer the question correctly.

Newborn Screening and the RUSP

The Recommended Uniform Screening Panel (RUSP) is a list of core and secondary conditions that newborns are routinely screened for in the United States. These conditions are selected based on their severity, treatability, and the availability of effective screening tests. Understanding the RUSP helps identify which hereditary conditions are prioritized for early detection to prevent serious health outcomes.
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Hereditary Conditions and Genetic Inheritance

Hereditary conditions are genetic disorders passed from parents to offspring through genes. These conditions can be inherited in various patterns such as autosomal dominant, autosomal recessive, or X-linked. Recognizing the inheritance pattern is essential for understanding the risk of occurrence and the biological basis of the condition.
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Symptoms and Consequences of Untreated Genetic Disorders

Many hereditary conditions cause specific symptoms and health problems that worsen if untreated. Early diagnosis through newborn screening allows timely intervention to prevent severe consequences like developmental delays, organ damage, or death. Knowing the untreated progression highlights the importance of screening and treatment.
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Related Practice
Textbook Question

The two-hybrid method facilitates the discovery of protein–protein interactions. How does this technique work? Can you think of reasons for obtaining a false-positive result, that is, where the proteins encoded by two clones interact in the two-hybrid system but do not interact in the organism in which they naturally occur? Can you think of reasons you might obtain a false-negative result, in which the two proteins interact in vivo but fail to interact in the two-hybrid system?

Textbook Question

Imagine yourself in the same position as Kristen Powers, faced with the decision of whether or not to undergo a genetic test that will discover if you have inherited Huntington disease. List five life decisions or choices that you think are likely to be affected by the results of the genetic test. Do you think you would make the same choice to test that Kristen made? Why or why not?

Textbook Question

Go to http://blast.ncbi.nlm.nih.gov/Blast.cgi and follow the links to nucleotide BLAST. Type in the sequence below; it is broken up into codons to make it easier to copy.

5' ATG TTC GTC AAT CAG CAC CTT TGT GGT TCT CAC CTC GTT GAA GCTTTG TAC CTT GTT TGC GGT GAA CGT GGT TTC TTC TAC ACT CCT AAG ACT TAA 3'

As you will note on the BLAST page, there are several options for tailoring your query to obtain the most relevant information. Some are related to which sequences to search in the database. For example, the search can be limited taxonomically (e.g., restricted to mammals) or by the type of sequences in the database (e.g., cDNA or genomic). For our search, we will use the broadest database, the 'Nucleotide collection (nr/nt).' This is the nonredundant (nr) database of all nucleotide data (nt) in GenBank and can be selected in the 'Database' dialogue box. Other parameters can also be adjusted to make the search more or less sensitive to mismatches or gaps. For our purposes, we will use the default setting, which is automatically presented. Press 'BLAST' to search. What can you say about the DNA sequence?

Textbook Question

Select one of the hereditary conditions from either the RUSP core conditions list or the RUSP list of secondary conditions and do some online research to find the following information:

The defect that characterizes the condition.

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Textbook Question

Select one of the hereditary conditions from either the RUSP core conditions list or the RUSP list of secondary conditions and do some online research to find the following information: The frequency of the condition in newborn infants (note any populations in which the condition is more frequent)

Textbook Question

Select one of the hereditary conditions from either the RUSP core conditions list or the RUSP list of secondary conditions and do some online research to find the following information:

The duration of treatment