What is genetic disease and what are nonsense mutation diseases?

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Hello Guys! Welcome and in this video, we present an introduction to genes, mutations and genetic diseases in a language that anyone can understand. Learn about genes, DNA, the different mutation types, and what are de novo mutations.

▶️ In this we cover all the common mutation types:
• Missense,
• Nonsense,
• Splice site and
• frameshift.

Each cell relies on thousands of proteins to complete their duties in the right places at the right times in order to function properly. Gene mutations can sometimes prohibit one or more of these proteins from functioning normally. A mutation can cause a protein to malfunction or go missing entirely by modifying the instructions for generating it in a gene. A mutation can interrupt normal development or produce a medical issue when it affects a protein that plays a key role in the body. A genetic disorder is an illness caused by a change in an individual's DNA sequence, known as a mutation.

Gene mutations can be so severe that they prohibit an embryo from surviving to birth in some situations. These mutations occur in genes that are critical for development, and they frequently affect an embryo's growth in its early stages. These mutations are incompatible with life since they have such severe consequences.
It's vital to remember that genes don't create disease; rather, mutations that cause a gene to operate incorrectly cause genetic disorders.
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▶️ Other video:
• Whole Exome Sequencing - Get the raw data files: [ Ссылка ]
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The Character design and drawing were made by the talented artist Siobhan Mullaney - [ Ссылка ]
▶️ Music credits: Papanan Kasettretat - "Inspirational Pop Music"
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#geneticdisorders #NonsenseMutationFoundation #introductiontogeneticdisorders #mutationtypes #frameshiftmutation #splicesitemutation #nonsensemutations #missensemutation #genetics #genetic

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