A mother is a carrier of Duchenne muscular dystrophy; the father is unaffected. They have one son with muscular dystrophy. Another male child is expected. What is the probability of the second son having muscular dystrophy? Explain your answer.
The following is an example (do not use the same references):
The probability of the second son having muscular dystrophy is that since the mother is a carrier, there is a 25% (1/4) chance that the second child will have muscular dystrophy (Bogue et al 2016). This is because, if the father and mother have no mutation, the first son should have muscular dystrophy (the probability is 10% if they are both carriers). Duchenne Muscular dystrophy is passed on via X-inactivation in female carriers, which means that the chance of getting muscular dystrophy if the mother is a carrier is 25%. Women only have one X chromosome (monosomy) so when they reproduce, they will always pass on their X chromosome. Since males are XY and females are XX, males can transmit an X chromosome to their sons; however, mothers can only transmit their X chromosome to their daughters. making the probability of the second son be 25%
A mutation in the gene that codes for dystrophin is what’s considered to be the root cause of Duchenne muscular dystrophy, which is a disorder that affects the muscles. Despite the fact that musculoskeletal symptoms are present at birth, the first visual manifestation of muscular dystrophy is typically noticeable when a kid begins to walk and begins training for running (Beekman et al 2018). Boys who have Duchenne can undergo considerable muscle degradation by the time they reach the end of adolescence. This can include the loss of large muscle groups in their backs (quadriceps), shoulders (deltoids), chest (pectorals), and abdominal muscles (the rectus abdominis). It is possible that the prevalence of Duchenne muscular dystrophy is rising as a result of advancements in medical treatment, enhanced knowledge and identification, a larger overall population, and possibly even changes in lifestyle.
Reference
Bogue, L., Peay, H., Martin, A., Lucas, A., & Ramchandren, S. (2016). Knowledge of carrier status and barriers to testing among mothers of sons with Duchenne or Becker muscular dystrophy. Neuromuscular Disorders, 26(12), 860-864. https://www.sciencedirect.com/science/article/pii/S096089661630829X
Beekman, C., Janson, A. A., Baghat, A., van Deutekom, J. C., & Datson, N. A. (2018). Use of capillary Western immunoassay (Wes) for quantification of dystrophin levels in skeletal muscle of healthy controls and individuals with Becker and Duchenne muscular dystrophy. PloS one, 13(4), e0195850. https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0195850
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