A hereditary disease is inherited as an autosomal recessive trait1. The wild-type allele of the disease gene produces a mature mRNA that is 1250 nucleotides (nt) long. Molecular analysis shows that the mature mRNA consists of four exons that measure 400 nt (exon 1), 320 nt (exon 2), 230 nt (exon 3), and 300 nt (exon 4). A mother and father with two healthy children and two children with the disease have northern blot analysis performed in a medical genetics laboratory. The results of the northern blot for each family member are shown here. Based on your analysis, what is the most likely molecular abnormality causing the disease allele?
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
- 19. Cancer Genetics29m
- 20. Quantitative Genetics1h 26m
- 21. Population Genetics50m
- 22. Evolutionary Genetics29m
18. Molecular Genetic Tools
Methods for Analyzing DNA
Problem 17
Textbook Question
Variable number tandem repeats (VNTRs) are repeating DNA sequences of about 15–100 bp in length, found both within and between genes. Why are they commonly used in forensics?

1
VNTRs are highly polymorphic, meaning they vary greatly between individuals due to differences in the number of repeat units. This makes them useful for distinguishing between individuals in a population.
VNTRs are inherited from parents, allowing forensic scientists to use them for familial matching and paternity testing by comparing patterns of inheritance.
The length of VNTR regions can be analyzed using techniques such as gel electrophoresis or PCR (Polymerase Chain Reaction), which amplify and separate DNA fragments based on size.
VNTR patterns are unique to each individual (except identical twins), making them a reliable tool for creating DNA profiles in forensic investigations.
Because VNTRs are stable and do not change significantly over time, they can be used to analyze DNA samples from crime scenes, even if the samples are old or degraded.

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Key Concepts
Here are the essential concepts you must grasp in order to answer the question correctly.
Variable Number Tandem Repeats (VNTRs)
VNTRs are short, repeating sequences of DNA that vary in number among individuals. These sequences can be found in non-coding regions of the genome and are highly polymorphic, meaning they differ significantly between people. This variability makes VNTRs useful for genetic profiling, as they can serve as unique identifiers for individuals.
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Forensic DNA Analysis
Forensic DNA analysis involves the examination of biological samples to identify individuals based on their unique genetic makeup. VNTRs are commonly used in this field because their high variability allows for the differentiation of DNA profiles, making it easier to match suspects to biological evidence found at crime scenes.
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Genetic Profiling
Genetic profiling is a technique used to create a DNA profile for an individual, which can be compared against other profiles for identification purposes. By analyzing specific VNTR loci, forensic scientists can generate a unique genetic fingerprint that is statistically unlikely to match another individual, thus aiding in criminal investigations and paternity testing.
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