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Abstract #21113 Published in IGR 10-2
Phylogenetic evaluation of pathological gene mutations
Isashiki YNeuro-Ophthalmology Japan 2007; 24: 443-450
To investigate the anthropological background of pathological gene mutations, a phylogenetic analysis was applied to Japanese populations of Leber's hereditary optic neuropathy (LHON) and congenital glaucoma (GLC). D-loop polymorphisms in mtDNA were examined in 36 unrelated LHON patients harboring mtDNA G11778A mutation. There was not any definite ancestral haplotype of the D-loop sequence among the 13 monophyletic clusters identified. The entire 543 amino-acid coding sequence of the CYP1B1 gene was determined in 11 independent GLC patients. The nucleotide-alignment sets were loaded into a software to construct a phylogenetic tree. Based on the branching patterns in the phylogenetic tree, two independent GLC patients with pathological CYP1B1 mutations were located on the upper branch of the tree. The mutational events of mitochondrial and CYP1B1 genes appear to be retroactive in the molecular evolutionary course. LA: Japanese
Dr. Y. Isashiki, Division of Ophthalmology, Aichi Shukutoku University Clinic, Nagakute-Katahira 9, Nagakute-cho, Aichi, 480-1197, Japan
Classification:
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
9.1.1 Congenital glaucoma, Buphthalmos (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)