Duchenne Multiple Dystrophy is a sex-linked recessive disorder. The defective gene produces an inactive form of the dystrophin protein that is normally required for proper functioning of the plasma membrane in muscle cells. Female carriers of the recessive gene are phenotypically normal (do not show any symptoms of the disease). A normal woman who has a history of muscular dystrophy in her family marries a normal man whose brother was affected with muscular dystrophy. What are the possible genotypes of the woman? A. MM B. MM,or Mm C. XMXM, or XMXm D. XmY
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The disorder is sex-linked recessive, which means it is located on the X chromosome. Show moreā¦
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Duchenne Muscular Dystrophy is a progressive disease caused by mutations in a gene on the X chromosome encoding for the protein dystrophin. The dystrophin gene is one of the largest in the human genome at over 2,400,000 bp. Yet, the protein itself is only 3,684 amino acids long. A) If the dystrophin gene was transcribed and translated directly from the DNA sequence, what size would the protein be (2 marks)? B) What causes the difference between the observed and expected amino acid sequence length (2 marks)? C) What are the clinical symptoms (phenotype) of Duchenne Muscular Dystrophy (3 marks)? D) Why do symptoms vary widely across patients (3 marks)?
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Duchenne muscular dystrophy is sex linked and usually affects only males. Victims of the disease become progressively weaker, starting early in life. a. What is the probability that a woman whose brother has Duchenne's disease will have an affected child? b. If your mother's brother (your uncle) had Duchenne's disease, what is the probability that you have received the allele? c. If your father's brother had the disease, what is the probability that you have received the allele?
Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder. It is characterized by a rapid progression of muscle degeneration, leading to a loss of skeletal muscle control. Eventually, it leads to respiratory failure and death. Imagine there is a female carrier who wants to have children with an unaffected male. a. What is the mother's genotype? ______________ b. What is the father's genotype? _______________ c. What is the probability of them having a son with DMD? _________________ d. What is the probability of them having a daughter with DMD? _______________ e. What is the probability of them having a daughter who is a carrier? _______________
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