Showing posts with label high-throughput sequencing. Show all posts
Showing posts with label high-throughput sequencing. Show all posts

Saturday, April 20, 2013

Hundreds of Genetic Mutations Linked to Autism



The new technology, HTS (high-throughput sequencing) can pick up the sequence of all 22,000 human genes and the whole human genome in just one experiment. Scientists discovered 50 to 100 specific genes and 20 to 40 chromosomal loci presenting ASD risk.
Josheph D. Buxbaum, PhD said, “ HTS shows us that there are not just a few mutations, but potentially hundreds of mutations that are linked to autism. By identifying the many genetic roots of this disorder, we can better understand its biology, which in turn will allow us to develop more tailored treatments for individuals.”

The following breakthroughs have been attributed to HTS:

  • People with an ASD do not share similar gene mutations

  • Mutations that developed in the sperm or ovaries of the parents were passed onto children

  • Locations of genes on a chromosome which are associated with autism overlap other syndromes and illnesses

  • A growing number of specific genes and chromosomal intervals