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Title: Transmission of heteroplasmic G11778A in extensive pedigrees of Thai Leber hereditary optic neuropathy
Authors: Nopasak Phasukkijwatana
Wanicha L. Chuenkongkaew
Rungnapa Suphavilai
Komon Luangtrakool
Bussaraporn Kunhapan
Patcharee Lertrit
Mahidol University
Keywords: Biochemistry, Genetics and Molecular Biology;Medicine
Issue Date: 1-Dec-2006
Citation: Journal of Human Genetics. Vol.51, No.12 (2006), 1110-1117
Abstract: Leber hereditary optic neuropathy (LHON) is characterized by the acute or subacute bilateral painless loss of central vision, predominantly in young males. G11778A is the most common mitochondrial DNA mutation responsible for the disease. Thirty-seven percent of our LHON pedigrees (which is a much higher prevalence than that generally found) carried heteroplasmic G11778A. Analyses of four large Thai LHON pedigrees spanning four to six generations strongly suggested that the transmission of the heteroplasmic G11778A mutation is under selective pressure in favour of the mutated allele and that heteroplasmy influences the disease expression. © 2006 The Japan Society of Human Genetics and Springer.
ISSN: 14345161
Appears in Collections:Scopus 2006-2010

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