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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
Chapter 16, Problem B.14a

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)

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Choose a hereditary condition from the RUSP (Recommended Uniform Screening Panel) core or secondary conditions list, such as Phenylketonuria (PKU) or Cystic Fibrosis.
Research reputable sources such as the Centers for Disease Control and Prevention (CDC), National Institutes of Health (NIH), or peer-reviewed articles to find the frequency of the chosen condition in newborn infants.
Identify and note any specific populations or ethnic groups where the condition has a higher prevalence, as some genetic disorders are more common in certain populations due to founder effects or genetic drift.
Summarize the frequency data, typically expressed as the number of affected newborns per number of births (e.g., 1 in 10,000), and include any relevant demographic details.
Ensure to cross-check multiple sources to confirm the accuracy of the frequency information and understand any variations reported.

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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 conditions that newborns are routinely screened for in the United States. It includes core and secondary conditions chosen based on their health impact and the availability of effective treatments. Understanding RUSP helps identify which hereditary conditions are prioritized for early detection.
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Frequency and Prevalence of Genetic Conditions

Frequency refers to how often a condition occurs in a specific population, often expressed as cases per number of births. Prevalence can vary by ethnicity, geography, or other demographic factors. Knowing frequency helps assess the public health impact and guides screening priorities.
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Hereditary Conditions and Genetic Inheritance

Hereditary conditions are genetic disorders passed from parents to offspring through genes. These conditions can follow different inheritance patterns such as autosomal dominant, autosomal recessive, or X-linked. Understanding inheritance helps explain why certain populations may have higher frequencies of specific conditions.
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