Monday, May 9, 2011

GENES! No, not the kind you wear.

So of course, my blogger friends, our fellow scientists back us up. In fact, they have determined exactly what gene causes Usher's syndrome.
Reading up on the sciency sites, they informed me that Usher's is caused when a mutated gene is inherited from both parents. So far, the are ELEVEN genes that cause Usher's:

  • Type 1 Usher syndrome: MY07A, USH1C, CDH23, PCHD15, SANS
  • Type 2 Usher syndrome: USH2A, VLGR1, WHRN
  • Type 3 Usher syndrome: USH3A
Since these genes are so widespread, tested for these genes are not normally conducted. Some of the latest research in New York and Israel pinpoints a certain mutation, called R245X, found on the PCHD15 gene in Ashkenazi Jews. Therefore, if you are an Ashkenazi Jew, you may be screen tested for the R245X mutation. Who knows where research can lead us in the future!!

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