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Ch. 15 - Recombinant DNA Technology and Its Applications
Sanders - Genetic Analysis: An Integrated Approach 3rd Edition
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Tutti i libri di testoSanders 3rd EditionCh. 15 - Recombinant DNA Technology and Its ApplicationsProblema 7a
Capitolo 15, Problema 7a

Using animal models of human diseases can lead to insights into the cellular and genetic bases of the diseases. Duchenne muscular dystrophy (DMD) is the consequence of an X-linked recessive allele.
How would you make a mouse model of DMD?

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Understand the genetic basis of Duchenne muscular dystrophy (DMD): DMD is caused by mutations in the dystrophin gene, which is located on the X chromosome. This gene encodes the dystrophin protein, essential for muscle function. Since DMD is X-linked recessive, males with one mutated allele exhibit the disease, while females require two mutated alleles to show symptoms.
Identify the mouse dystrophin gene: The mouse genome contains a homologous dystrophin gene similar to the human dystrophin gene. This gene must be targeted to create a model of DMD.
Use gene-editing techniques to introduce mutations: Employ a gene-editing tool such as CRISPR-Cas9 to introduce a specific mutation into the dystrophin gene in mouse embryonic stem cells. The mutation should mimic the type of mutation found in human DMD patients, such as a frameshift or nonsense mutation that disrupts dystrophin production.
Generate genetically modified mice: Inject the edited embryonic stem cells into mouse blastocysts and implant them into surrogate mothers. The resulting offspring will carry the targeted mutation in the dystrophin gene. Breed these mice to produce homozygous mutants (females with two mutated alleles or males with one mutated allele) to study the disease phenotype.
Validate the mouse model: Confirm the absence of dystrophin protein in the muscle tissue of the genetically modified mice using techniques such as Western blotting or immunohistochemistry. Assess the mice for symptoms of DMD, such as muscle weakness and degeneration, to ensure the model accurately reflects the human disease.

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X-linked Recessive Inheritance

X-linked recessive inheritance refers to a pattern of genetic transmission where a gene located on the X chromosome is expressed in males (who have one X and one Y chromosome) if they inherit the recessive allele. In females, who have two X chromosomes, the presence of one normal allele can mask the effect of the recessive allele. This is crucial for understanding diseases like Duchenne muscular dystrophy (DMD), which predominantly affects males.
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X-Inactivation

Animal Models in Genetics

Animal models, such as mice, are used in genetics to study human diseases by replicating the genetic and phenotypic characteristics of the condition. These models allow researchers to investigate disease mechanisms, test potential treatments, and understand the genetic basis of disorders. Creating a mouse model for DMD involves manipulating the mouse genome to mimic the human mutation responsible for the disease.
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Genetics of Development

Gene Editing Techniques

Gene editing techniques, such as CRISPR-Cas9, enable precise modifications to an organism's DNA. In the context of creating a mouse model for DMD, these techniques can be employed to introduce specific mutations in the mouse genome that correspond to the mutations found in human patients. This allows for the study of disease progression and the evaluation of therapeutic strategies in a controlled environment.
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Mapping Genes
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Domanda del libro di testo

The results shown are from a DNA test for four genes used in a paternity identification case. DNA for the mother (M) and her child (C) are shown along with DNA from two possible fathers, F1 and F2. Based on the exclusion principle, is either man excluded as the possible father? Explain.

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The results shown are from a DNA test for four genes used in a paternity identification case. DNA for the mother (M) and her child (C) are shown along with DNA from two possible fathers, F1 and F2. What can you conclude based on the DNA results available?

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Figure E.1 illustrates the results of an electrophoretic analysis of 13 CODIS STR markers on a DNA sample and identifies the alleles for each gene. Table E.2 lists the frequencies for alleles of three of the STRs shown in the figure. Use this information to calculate the frequency of the genotype for STR genes FGA, vWA, and D3S1358 given in Figure E.1.

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Using animal models of human diseases can lead to insights into the cellular and genetic bases of the diseases. Duchenne muscular dystrophy (DMD) is the consequence of an X-linked recessive allele.

How would you make a Drosophila model of DMD?

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Domanda del libro di testo
Compare methods for constructing homologous recombinant transgenic mice and yeast.
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The results shown are from a DNA test for four genes used in a paternity identification case. DNA for the mother (M) and her child (C) are shown along with DNA from two possible fathers, F1 and F2. In the 'C' column, label the DNA bands contributed by the mother with 'M' and the DNA bands contributed by the father with 'F.'

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