Textbook Question
Describe three major goals of the Human Genome Project.
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Ch. 18 - Genomics, Bioinformatics, and Proteomics
Klug10th EditionEssentials of GeneticsISBN: 9780135588789
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Table of contents
- Ch. 1 - Introduction to Genetics16
- Ch. 2 - Mitosis and Meiosis28
- Ch. 3 - Mendelian Genetics37
- Ch. 4 - Modification of Mendelian Ratios53
- Ch. 5 - Sex Determination and Sex Chromosomes32
- Ch. 6 - Chromosome Mutations: Variation in Number and Arrangement37
- Ch. 7 - Linkage and Chromosome Mapping in Eukaryotes36
- Ch. 8 - Genetic Analysis and Mapping in Bacteria and Bacteriophages24
- Ch. 9 - DNA Structure and Analysis38
- Ch. 10 - DNA Replication29
- Ch. 11 - Chromosome Structure and DNA Sequence Organization22
- Ch. 12 - The Genetic Code and Transcription36
- Ch. 13 - Translation and Proteins27
- Ch. 14 - Gene Mutation, DNA Repair, and Transposition34
- Ch. 15 - Regulation of Gene Expression in Bacteria22
- Ch. 16 - Regulation of Gene Expression in Eukaryotes37
- Ch. 17 - Recombinant DNA Technology27
- Ch. 18 - Genomics, Bioinformatics, and Proteomics30
- Ch. 19 - The Genetics of Cancer21
- Ch. 20 - Quantitative Genetics and Multifactorial Traits37
- Ch. 21 - Population and Evolutionary Genetics45
Chapter 18, Problem 12
The Human Genome Project has demonstrated that in humans of all races and nationalities approximately 99.9 percent of the genome sequence is the same, yet different individuals can be identified by DNA fingerprinting techniques. What is one primary variation in the human genome that can be used to distinguish different individuals? Briefly explain your answer.
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Understand that although the human genome is about 99.9% identical across all individuals, the small 0.1% variation is what allows us to distinguish between people genetically.
Identify the main type of genetic variation used in DNA fingerprinting: these are called Short Tandem Repeats (STRs) or Variable Number Tandem Repeats (VNTRs), which are sequences of DNA where a short sequence of bases is repeated multiple times in a row.
Explain that the number of repeats at these STR or VNTR loci varies greatly among individuals, making these regions highly polymorphic and useful for identification.
Note that DNA fingerprinting analyzes multiple STR loci across the genome to create a unique genetic profile for each individual, since the combination of repeat numbers at different loci is highly unlikely to be the same in two unrelated people.
Summarize that the primary variation used to distinguish individuals in DNA fingerprinting is the difference in the number of tandem repeats at specific loci in the genome.
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Key Concepts
Here are the essential concepts you must grasp in order to answer the question correctly.
Human Genome Similarity
The human genome is remarkably similar across all individuals, with about 99.9% of the DNA sequence being identical. This high similarity reflects shared genetic heritage and common biological functions, but the small differences account for individual uniqueness.
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Human Genome Composition
Genetic Variation and Polymorphisms
Genetic variation refers to differences in DNA sequences among individuals. Polymorphisms, such as single nucleotide polymorphisms (SNPs) and variable number tandem repeats (VNTRs), are common types of variations that contribute to genetic diversity and can be used to distinguish individuals.
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09:28Genomic Variation
DNA Fingerprinting and Short Tandem Repeats (STRs)
DNA fingerprinting uses specific regions of the genome called short tandem repeats (STRs), which are repeating sequences that vary in length between individuals. These variations in STR patterns provide a unique genetic profile for each person, enabling identification despite overall genome similarity.
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Related Practice
Textbook Question
Describe the human genome in terms of genome size, the percentage of the genome that codes for proteins, how much is composed of repetitive sequences, and how many genes it contains. Describe two other features of the human genome.
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Textbook Question
Recall that when the HGP was completed, more than 40 percent of the genes identified had unknown functions. The PANTHER database provides access to comprehensive and current functional assignments for human genes (and genes from other species).
Go to http://www.pantherdb.org/data/. In the frame on the left side of the screen locate the 'Quick links' and use the 'Whole genome function views' link to a view of a pie chart of current functional classes for human genes. Mouse over the pie chart to answer these questions. What percentage of human genes encode transcription factors? Cytoskeletal proteins? Transmembrane receptor regulatory/adaptor proteins?
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Textbook Question
Through the Human Genome Project (HGP), a relatively accurate human genome sequence was published from combined samples from multiple individuals. It serves as a reference for a haploid genome. How do results from personal genome projects (PGP) differ from those of the HGP?
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Textbook Question
Explain differences between whole-genome sequencing (WGS) and whole-exome sequencing (WES), and describe advantages and disadvantages of each approach for identifying disease-causing mutations in a genome. Which approach was used for the Human Genome Project?
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Textbook Question
Describe the significance of the Genome 10K project.
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