These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: [DNA diagnosis of Leber's hereditary optic neuropathy].
    Author: Mashima Y, Oguchi Y, Uemura Y, Kudoh J, Sakai K, Shimizu N.
    Journal: Nippon Ganka Gakkai Zasshi; 1990 Jul; 94(7):683-7. PubMed ID: 2220506.
    Abstract:
    The point mutation at nt11778 in mitochondrial DNA is highly associated with Leber's hereditary optic neuropathy and eliminates a restriction enzyme SfaNI site in American blacks and Caucasians. DNA diagnosis was applied to a male Japanese patient with this disorder and his mother as a carrier. The mitochondrial DNA fragments (255bp) including this mutation were amplified by polymerase chain reaction. SfaNI digested the DNA fragments of normal Japanese subjects, but did not digest those of the patient or the carrier, The mutation within the SfaNI site is also associated with Japanese suffering from this disorder.
    [Abstract] [Full Text] [Related] [New Search]