Snemalna Knjiga Besedilo
- Suzy is a carrier for DMD. One of her alleles is dominant while one is recessive. DMD is a sex linked recessive pattern. DMD is inherited from the mother's X chromosome. DMD causes muscles to shrink over time.
- Genes are the genetic makeup of cells. They are regions in the DNA that are the instructions that code for proteins. When something is wrong in the code, then the result is a defective protein. DMD occurs when the dystrophin protein is shorter than it is supposed to be. It is typically supposed to connect actin and myosin, but a defective dystrophin only connects to one and doesn't function correctly.
- Carl, I'm pregnant! We are going to have a baby boy!
- Boys are more likely to acquire DMD than girls because they only have one X chromosome and one Y chromosome and if that X chromosome has DMD, they automatically have it. Girls have 2 X chromosomes, so if one has the mutation while the other one doesn't, then they don't have DMD, but are a carrier for it.
- The parents noticed that something was different about Bobby. He wasn't able to do certain things like walking on his own at the same time other children his age were able to.
- Mutations happen when there is a mistake in the DNA. This could be if the DNA is missing correct letters. Protein synthesis is the process that creates proteins. Transcription goes from DNA to RNA. Translation goes from mRNA to tRNA (nucleus to ribosomes in cells) which makes a chain of amino acids which form a protein. Within this process, some of the coding ends up being wrong which results in a defective dystrophin protein.
- Through our tests we took, we found that Bobby has DMD. The average life expectancy for people with DMD is only 20-30 years.
- Bobby has to be in a wheelchair because he is unable to walk on his own. He has started going to physical therapy, so his muscles can grow a bit stronger.
- Through physical therapy, Bobby has gained enough strength to walk with braces. His muscles are still shrinking, though.
- Sally will be able to crawl and walk like normal children because she is only a carrier for DMD.
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