Autism may be linked to missing DNA...

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Interesting. But the fact that only 1 percent of the affected boys had the mutant allele, means that it's only a minor QTL. Not a major breakthrough but a 'small step form mankind' I would say. They don't mention to have found any females with the mutation and ASD. Maybe it's just that rare?
 
Marcel said:
They don't mention to have found any females with the mutation and ASD. Maybe it's just that rare?
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I'm not sure but I think they mention that because girls have two X chromosomes, where as boys have only one, they don't develop autism as frequently as boys do. I have a son who has high functioning autism.
 
Night Fighter Nut said:
I'm not sure but I think they mention that because girls have two X chromosomes, where as boys have only one, they don't develop autism as frequently as boys do. I have a son who has high functioning autism.
Click to expand...

Of course, but they must have tested females with autism. There they should have found females homozygous for the mutation. But testing 2000 (among which most if not all were male) would have been too few to find one. The most interesting part is if they will find mutations in other genes in the pathway. This could be a lead to further discoveries.
 
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