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Ch. 20 - Recombinant DNA Technology
Klug - Concepts of Genetics  12th Edition
Klug12th EditionConcepts of Genetics ISBN: 9780135564776Not the one you use?Change textbook
Chapter 20, Problem 33d

The U.S. Department of Justice has established a database that catalogs PCR amplification products from short tandem repeats of the Y chromosome (Y-STRs) in humans. The database contains polymorphisms of five U.S. ethnic groups (African-Americans, European Americans, Hispanics, Native Americans, and Asian-Americans) as well as the worldwide population.
For forensic applications, the probability of a 'match' for a crime scene DNA sample and a suspect's DNA often culminates in a guilty or innocent verdict. How is a 'match' determined, and what are the uses and limitations of such probabilities?

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Understand the concept of Y-STRs: Short Tandem Repeats (STRs) are repetitive sequences of DNA found in specific regions of the genome. Y-STRs are STRs located on the Y chromosome, which is passed down from father to son. These markers are useful for tracing paternal lineage and forensic identification.
Learn how a 'match' is determined: A 'match' occurs when the DNA profile from the crime scene sample aligns with the DNA profile of a suspect. This involves comparing the alleles (specific STR sequences) at multiple loci on the Y chromosome. If the alleles at all tested loci are identical, a match is declared.
Understand the probability calculation: The probability of a match is calculated using population frequency data from the Y-STR database. This involves determining how common or rare the specific Y-STR profile is within the relevant population group. The rarer the profile, the stronger the evidence for a match.
Explore the uses of Y-STR analysis: Y-STR profiling is used in forensic investigations to identify male suspects, especially in cases where mixed DNA samples are present (e.g., sexual assault cases). It is also used in genealogical studies and paternity testing.
Recognize the limitations: Y-STR analysis cannot distinguish between male relatives who share the same paternal lineage, as they will have identical Y-STR profiles. Additionally, the probability of a match is influenced by the size and diversity of the database, and it does not provide absolute proof of guilt or innocence but rather statistical evidence to support investigations.

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Key Concepts

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

PCR and Y-STR Analysis

Polymerase Chain Reaction (PCR) is a technique used to amplify specific DNA sequences, making it easier to analyze genetic material. Y-STRs, or Y chromosome short tandem repeats, are specific regions of the Y chromosome that vary among individuals. Analyzing these regions can help determine paternal lineage and is particularly useful in forensic science for identifying male DNA in mixed samples.
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Statistical Probability in Forensics

In forensic science, the probability of a DNA match is calculated based on the frequency of specific alleles in the population. This statistical analysis helps determine how likely it is that a DNA sample from a crime scene matches that of a suspect. However, these probabilities can be influenced by population diversity and the number of loci analyzed, which can complicate interpretations in court.
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Limitations of DNA Evidence

While DNA evidence is powerful, it has limitations. Factors such as contamination, the quality of the DNA sample, and the statistical assumptions made during analysis can affect the reliability of a match. Additionally, a match does not prove guilt; it only indicates a statistical likelihood, which must be considered alongside other evidence in a legal context.
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Related Practice
Textbook Question

The U.S. Department of Justice has established a database that catalogs PCR amplification products from short tandem repeats of the Y chromosome (Y-STRs) in humans. The database contains polymorphisms of five U.S. ethnic groups (African-Americans, European Americans, Hispanics, Native Americans, and Asian-Americans) as well as the worldwide population.

Given that STRs are repeats of varying lengths, for example (TCTG)₉₋₁₇ or (TAT)₆₋₁₄, explain how PCR could reveal differences (polymorphisms) among individuals. How could the Department of Justice make use of those differences?

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Textbook Question

The U.S. Department of Justice has established a database that catalogs PCR amplification products from short tandem repeats of the Y chromosome (Y-STRs) in humans. The database contains polymorphisms of five U.S. ethnic groups (African-Americans, European Americans, Hispanics, Native Americans, and Asian-Americans) as well as the worldwide population.

Y-STRs from the nonrecombining region of the Y chromosome (NRY) have special relevance for forensic purposes. Why?

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Textbook Question

The U.S. Department of Justice has established a database that catalogs PCR amplification products from short tandem repeats of the Y chromosome (Y-STRs) in humans. The database contains polymorphisms of five U.S. ethnic groups (African-Americans, European Americans, Hispanics, Native Americans, and Asian-Americans) as well as the worldwide population.

What would be the value of knowing the ethnic population differences for Y-STR polymorphisms?

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Textbook Question

There are a variety of circumstances under which rapid results using multiple markers in PCR amplifications are highly desired, such as in forensics, pathogen analysis, or detection of genetically modified organisms. In multiplex PCR, multiple sets of primers are used, often with less success than when applied to PCR as individual sets. Numerous studies have been conducted to optimize procedures, but each has described the process as time consuming and often unsuccessful. Considering the information given in Problem 30, why should multiplex PCR be any different than single primer set PCR in terms of dependability and ease of optimization?

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