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Ch. 3 - Cell Division and Chromosome Heredity
Sanders - Genetic Analysis: An Integrated Approach 3rd Edition
Sanders3rd EditionGenetic Analysis: An Integrated ApproachISBN: 9780135564172Not the one you use?Change textbook
Chapter 3, Problem 34

Duchenne muscular dystrophy (DMD; OMIM 310200) and Becker muscular dystrophy (BMD; OMIM 300376) are both X-linked recessive conditions that result from different mutations of the same gene, known as dystrophin, on the long arm of the chromosome. BMD and DMD are quite different clinically. DMD is a very severe disorder that first appears at a young age, progresses rapidly, and is often fatal in the late teens to 20s. BMD, on the other hand, is much milder. Often symptoms don't first appear until the 40s or 50s, the progression of the disease is slow, and fatalities due to BMD are infrequent. Go to https://www.ncbi.nlm.nih/omim and survey the information describing the gene mutations causing these two conditions. Discuss the information you find with a few others in a small group, and write a single summary explaining your findings.

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1
Access the OMIM (Online Mendelian Inheritance in Man) database by navigating to https://www.ncbi.nlm.nih.gov/omim.
Search for the entries corresponding to Duchenne muscular dystrophy (DMD; OMIM 310200) and Becker muscular dystrophy (BMD; OMIM 300376) to locate detailed information about the dystrophin gene mutations.
Review the descriptions of the dystrophin gene (DMD gene) mutations for both conditions. Note that DMD is caused by mutations that typically result in a complete loss of dystrophin protein, while BMD is caused by mutations that allow for the production of a partially functional dystrophin protein.
Compare the clinical differences between DMD and BMD based on the severity of the mutations. DMD mutations are often frameshift or nonsense mutations leading to truncated, nonfunctional dystrophin, whereas BMD mutations are usually in-frame deletions that preserve some dystrophin function.
Summarize your findings in a concise explanation, highlighting the genetic basis of the differences in severity and progression between DMD and BMD. Discuss these findings with your group to ensure a comprehensive understanding before finalizing the summary.

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Key Concepts

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

X-linked Recessive Inheritance

X-linked recessive inheritance refers to genetic conditions that are associated with mutations on the X chromosome. Males, having only one X chromosome, are more likely to express these conditions if they inherit a mutated gene, while females, with two X chromosomes, may be carriers without showing symptoms. This pattern of inheritance is crucial for understanding conditions like Duchenne and Becker muscular dystrophy.
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Dystrophin Gene and Its Role

The dystrophin gene encodes a protein essential for maintaining the structural integrity of muscle cells. Mutations in this gene lead to the absence or dysfunction of dystrophin, resulting in muscle degeneration seen in conditions like DMD and BMD. Understanding the specific mutations and their effects on dystrophin is key to differentiating between the severity of these two muscular dystrophies.
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Clinical Manifestations of DMD and BMD

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) exhibit distinct clinical manifestations despite being caused by mutations in the same gene. DMD typically presents severe symptoms early in life, leading to rapid progression and early mortality, while BMD has a milder course with later onset and slower progression. Recognizing these differences is essential for diagnosis and management of the conditions.
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Modern Genetics
Related Practice
Textbook Question

From a piece of blank paper, cut out three sets of four cigar-shaped structures (a total of 12 structures). These will represent chromatids. Be sure each member of a set of four chromatids has the same length and girth. In set one, label two chromatids 'A' and two chromatids 'a.' Cut each of these chromatids about halfway across near their midpoint and slide the two 'A' chromatids together at the cuts to form a single set of attached sister chromatids. Do the same for the 'a' chromatids. In the second set of four chromatids, label two 'B' and two 'b.' Cut and slide these together as you did for the first set, joining the 'B' chromatids together and the 'b' chromatids together. Repeat this process for the third set of chromatids, labeling them as 'D' and 'd.' You now have models for three pairs of homologous chromosomes, for a total of six chromosomes. Combining your work in steps (f) through (m), provide a written explanation of the connection between meiotic cell division and Mendel's law of independent assortment.

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Textbook Question

Form a small discussion group and decide on the most likely genetic explanation for each of the following situations;

A man who has red–green color blindness and a woman who has complete color vision have a son with red–green color blindness. What are the genotypes of these three people, and how do you explain the color blindness of the son?

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Textbook Question

Form a small discussion group and decide on the most likely genetic explanation for each of the following situations;

Cross A, performed by Morgan and shown in the figure below, is between a mutant male fruit fly with white eyes and a female fruit fly from a pure-breeding, red-eye stock. The figure shows that 1237 F1 progeny were produced, all of them with red eyes. In reality, this isn't entirely true. Among the 1237 F1 progeny were 3 male flies with white eyes. Give two possible explanations for the appearance of these white-eyed males.

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Textbook Question

Red–green color blindness is a relatively common condition found in about 8% of males in the general population. From this, population, biologists estimate that 8% is the frequency of X chromosomes carrying a mutation of the gene encoding red and green color vision. Based on this frequency, determine the approximate frequency with which you would expect females to have red–green color blindness. Explain your reasoning.

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