Table of contents

1. Introduction to Genetics51m
2. Mendel's Laws of Inheritance3h 37m
3. Extensions to Mendelian Inheritance2h 41m
4. Genetic Mapping and Linkage2h 28m
5. Genetics of Bacteria and Viruses1h 21m
6. Chromosomal Variation1h 48m
7. DNA and Chromosome Structure56m
8. DNA Replication1h 10m
9. Mitosis and Meiosis1h 34m
10. Transcription1h 0m
11. Translation58m
12. Gene Regulation in Prokaryotes1h 19m
13. Gene Regulation in Eukaryotes44m
14. Genetic Control of Development44m
15. Genomes and Genomics1h 50m
16. Transposable Elements47m
17. Mutation, Repair, and Recombination1h 6m
18. Molecular Genetic Tools19m
- Genetic Cloning
  9m
- Methods for Analyzing DNA
  9m
19. Cancer Genetics29m
- Overview of Cancer
  21m
- Cancer Mutations
  7m
20. Quantitative Genetics1h 26m
21. Population Genetics50m
- Hardy Weinberg
  19m
- Allelic Frequency Changes
  31m
22. Evolutionary Genetics29m

15. Genomes and Genomics

Genomics and Human Medicine

Genetics

15. Genomes and Genomics

Genomics and Human Medicine

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1:59 minutes

Problem B.14b

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.

Verified step by step guidance

Choose a hereditary condition from the RUSP (Recommended Uniform Screening Panel) core or secondary conditions list. For example, you might select Phenylketonuria (PKU) or Cystic Fibrosis.

Research the genetic basis of the chosen condition, focusing on the specific gene or genes involved. Identify the type of mutation or defect that causes the disorder, such as a point mutation, deletion, or insertion.

Understand how this genetic defect affects the function of the gene product (usually a protein), and how this leads to the symptoms or characteristics of the condition.

Summarize the molecular defect by describing the gene involved, the nature of the mutation, and the resulting biochemical or physiological impact.

Optionally, explore how this defect is inherited (e.g., autosomal recessive, autosomal dominant, X-linked) to deepen your understanding of the hereditary pattern.

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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. Understanding the RUSP helps identify which hereditary conditions are prioritized for early detection to prevent severe health outcomes.

Genetic Defects and Mutations

A genetic defect refers to an abnormality in the DNA sequence that causes a hereditary condition. These defects can be mutations in a single gene or larger chromosomal changes, leading to altered protein function or regulation, which underlies the disease.

Hereditary Condition Pathophysiology

Pathophysiology describes how a genetic defect disrupts normal biological processes, causing the symptoms of a hereditary condition. Understanding this mechanism is essential to link the genetic defect to clinical manifestations and potential treatments.

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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.

Key Concepts

Newborn Screening and the RUSP

Genetic Defects and Mutations

Hereditary Condition Pathophysiology

Watch next

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.