Exclusive homoplasmic 11778 mutation in mitochondrial DNA of Chinese patients with Leber's hereditary optic neuropathy

Japanese Journal of Ophthalmology

Volumn 43, Issue 3, 1999, Pages 196-200

  Yen, May Yung ^a   Lee, Hsin Chen ^a   Wang, An Guor ^a   Chang, Wei Ling ^a   Liu, Jorn Hon ^a   Wei, Yau Huei ^a  

^a NATIONAL YANG MING UNIVERSITY   (Taiwan)

Author keywords

11778 mutation; Chinese Leber's hereditary optic neuropathy; Homoplasmy; Mitochondrial DNA

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; GENE MUTATION; GENETIC SCREENING; HUMAN; LEBER CONGENITAL AMAUROSIS; MALE; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FEMALE; GENOTYPE; HUMANS; MALE; OPTIC ATROPHIES, HEREDITARY; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 0033136971     PISSN: 00215155     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0021-5155(99)00008-8     Document Type: Article

References (21)

1. Nikoskelainen E.K., Savontaus M.-L., Wanne O.P., Katila M.J., Nummelin K.U. Leber's hereditary optic neuropathy, a maternally inherited disease. A genealogic study of four pedigrees. Arch Ophthalmol. 105:1987;665-671.
2. Wallace D.C., Singh G., Lott M.T.et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science. 242:1988;1427-1430.
3. Brown M.D., Sun F., Wallace D.C. Clustering of Caucasian Leber's hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage. Am J Hum Genet. 60:1997;381-387.
4. Howell N., Halvorson S., Burns J., McCullough D.A., Poulton J. When does bilateral optic atrophy become Leber hereditary optic neuropathy? Am J Hum Genet. 53:1993;959-963.
5. Holt I.J., Miller D.H., Harding A.E. Genetic heterogeneity and mitochondrial heteroplasmy in Leber's hereditary optic neuropathy. J Med Genet. 26:1989;739-743.
6. Zhu D., Economou E.P., Antonarakis S.E., Maumenee I.H. Mitochondrial DNA mutation and heteroplasmy in type I Leber hereditary optic neuropathy. Am J Med Genet. 42:1992;173-179.
7. Smith K.H., Johns D.R., Heher K.L., Miller N.R. Heteroplasmy in Leber's hereditary optic neuropathy. Arch Ophthalmol. 111:1993;1486-1490.
8. Vilkki J., Ott J., Savontaus M.-L., Aula P., Nikoskelanen E.K. Segregation of mitochondrial genomes in heteroplasmic lineages with Leber hereditary optic neuroretinopathy. Am J Hum Genet. 47:1990;95-100.
9. Bolhuis P.A., Bleeker-Wagemakers E.M., Ponne N.J.et al. Rapid shift in genotype of human mitochondrial DNA in a family with Leber's hereditary optic neuropathy. Biochem Biophys Res Commun. 170:1990;994-997.
10. Lott M.T., Voljavecs A.S., Wallace D.C. Variable genotype of Leber's hereditary optic neuropathy patients. Am J Ophthalmol. 109:1990;625-631.
11. Howell N., Xu M., Halvorson S., Bodis-Wollner I., Sherman J. A heteroplasmic LHON family. tissue distribution and transmission of the 11778 mutation Am J Hum Genet. 55:1994;203-206.
12. Isashiki Y., Nakagawa M. Clinical correlation of mitochondrial DNA heteroplasmy and Leber's hereditary optic neuropathy. Jpn J Ophthalmol. 35:1991;259-267.
13. Mashima Y., Saga M., Hiida Y., Oguchi Y., Wakakura M., Kudoh J., Shimizu N. Quantitative determination of heteroplasmy in Leber's hereditary optic neuropathy by single-strand conformation polymorphism. Invest Ophthalmol Vis Sci. 36:1995;1714-1720.
14. Black G., Craig I., Oostra R.et al. Leber's hereditary optic neuropathy. implications of the sex ratio for linkage studies in families with the 3460 ND1 mutation Eye. 9:1995;513-516.
15. Black G.C.M., Morten K., Laborde A., Poulton J. Leber's hereditary optic neuropathy. heteroplasmy is likely to be significant in the expression of LHON in families with the 3460 ND1 mutation Br J Ophthalmol. 80:1996;915-917.
16. Newman N.J., Lott M.T., Wallace D.C. The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation. Am J Ophthalmol. 111:1991;750-762.
17. Yen M.Y., Yen T.C., Pang C.Y., Liu J.H., Wei Y.H. Mitochondrial DNA mutation in Leber's hereditary optic neuropathy. Invest Ophthalmol Vis Sci. 33:1992;2561-2566.
18. Nakamura M., Fujiwara Y., Yamamoto M. Homoplasmic and exclusive DN4 gene mutation in Japanese pedigrees with Leber's disease. Invest Ophthalmol Vis Sci. 34:1993;488-495.
19. Juvonen V., Huoponen K., Syvanen A.C., Nikoskelainen E., Savontaus M.L. Quantification of point mutations associated with Leber hereditary optic neuroretinopathy by solid-phase minisequencing. Hum Genet. 93:1994;16-20.
20. Hotta Y., Fujiki K., Hayakawa M.et al. Clinical features of Japanese Leber's hereditary optic neuropathy with 11778 mutation of mitochondrial DNA. Jpn J Ophthalmol. 39:1995;96-108.
21. Orita M., Suzuki Y., Sekiya T., Hayashi K. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics. 5:1989;874-879.