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Showing posts with the label Haploinsufficiency

Under-expression (Haploinsufficiency) of ARID1B in Autism and Corpus Callosum Abnormalities

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People keep telling me that my blog is too complicated; compared to the literature it really is not. If your child has a disabling condition you really should be willing to invest all the time needed to learn about it, rather than be a passive bystander. I think you can investigate even complex sounding genetic disorders without being an expert, which is what happens in today’s post.   Are there 20,000 types of jeans? As readers may recall, humans only have about 20,000 genes, far less than originally was thought. Each gene provides the instructions to make one thing, usually a protein. For the great majority of genes we have two copies, one from Mum and one from Dad. Mitochondrial genes all come from Mum. These genes are stored on chromosomes (like recipe books). For 22 of these recipe books you have two copies, so if one page got damaged at least you have an undamaged version from the other book. The 23rd pair of books is special because while females have two copies, males do ...