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
13. Gene Regulation in Eukaryotes
Epigenetics, Chromatin Modifications, and Regulation
Problem 21c
Textbook Question
Prader–Willi syndrome (PWS) is a genetic disorder with a clinical profile of obesity, intellectual disability, and short stature. It can be caused in several ways. Most common is a deletion on the paternal copy of chromosome 15, but it can also be caused by an epigenetic imprinting disorder, and uniparental disomy, an event in which the affected child receives two copies of the maternal chromosome 15. A child with PWS comes to your clinic for a diagnosis of the molecular basis for this condition. The gel below shows the results of testing with short tandem repeats (STRs) from the region of chromosome 15 associated with the disorder.
Is this case caused by a deletion in the paternal copy of chromosome 15? Explain.
![Pedigree chart showing family relationships and STR test results for Prader-Willi syndrome diagnosis.](https://lightcat-files.s3.amazonaws.com/problem_images/f8d5875af91c824d-1677499132213.jpg)
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1
Identify the lanes in the gel image: Lane 1 corresponds to the father, Lane 2 to the affected child, Lane 3 to the mother, Lane 4 to a sibling, and Lane 5 to another sibling.
Observe the band patterns in each lane. Each band represents an allele of the STR region on chromosome 15.
Compare the band pattern of the affected child (Lane 2) with the parents (Lanes 1 and 3).
Check if the affected child has inherited one band from each parent. If the child has only bands matching the mother and none from the father, it suggests uniparental disomy or a deletion.
Determine if the paternal band is missing in the affected child. If the child has only maternal bands, it indicates a deletion in the paternal chromosome 15.
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