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Hap Map Project - Bgbunict.it

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Major Autism Gene Found w<strong>it</strong>h Help of <strong>Hap</strong><strong>Map</strong><br />

Using data from the <strong>Hap</strong><strong>Map</strong>, along w<strong>it</strong>h DNA samples collected from many<br />

families who have affected children, researchers have discovered a genetic<br />

variation linked to autism, one of the most her<strong>it</strong>able mental health<br />

cond<strong>it</strong>ions.<br />

They found a variation in the sequence of a gene - the “MET receptor<br />

tyrosine kinase gene” - that is associated w<strong>it</strong>h autism. This gene is involved<br />

in brain development, immune function, and digestive system repair.<br />

The MET promoter variant rs1858830 allele "C" is strongly associated w<strong>it</strong>h<br />

ASD and results in reduced gene transcription. MET protein levels were<br />

significantly decreased in ASD cases compared w<strong>it</strong>h control subjects.<br />

People who have the variation are more than twice as likely as others to<br />

have “autism spectrum disorders”<br />

Campbell DB et al, Ann Neurol. 2007

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