HIGH-FREQUENCY OF MUTATIONS AT POSITION-11778 IN MITOCHONDRIAL ND4 GENE IN JAPANESE FAMILIES WITH LEBERS HEREDITARY OPTIC NEUROPATHY

被引：35

作者：

MASHIMA, Y ^{[1
]}

HIIDA, Y ^{[1
]}

OGUCHI, Y ^{[1
]}

KUDOH, J ^{[1
]}

SHIMIZU, N ^{[1
]}

机构：

[1] KEIO UNIV,SCH MED,DEPT MOLEC BIOL,SHINJUKU KU,TOKYO 160,JAPAN

来源：

HUMAN GENETICS | 1993年 / 92卷 / 01期

关键词：

D O I：

10.1007/BF00216156

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We have investigated the presence of a point mutation at position 11778 in the ND4 gene of mitochondrial DNA in 17 Japanese families with Leber's hereditary optic neuropathy (LHON), and have identified the mutation in 14 (82.4%) of the 17 families. The prevalence of this mutation appears to be much higher in Japanese patients with LHON than in patients of other ethnic origins, such as Finnish, Dutch, German, and English families.

引用

页码：101 / 102

页数：2

共 8 条

[1] RAPID SHIFT IN GENOTYPE OF HUMAN MITOCHONDRIAL-DNA IN A FAMILY WITH LEBER HEREDITARY OPTIC NEUROPATHY [J].

BOLHUIS, PA ;

BLEEKERWAGEMAKERS, EM ;

PONNE, NJ ;

VANSCHOONEVELD, MJ ;

WESTERVELD, A ;

VANDENBOGERT, C ;

TABAK, HF .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1990, 170 (03) :994-997

[2]

HIIDA Y, 1991, JPN J OPHTHALMOL, V35, P102

[3] GENETIC-HETEROGENEITY AND MITOCHONDRIAL-DNA HETEROPLASMY IN LEBER HEREDITARY OPTIC NEUROPATHY [J].

HOLT, IJ ;

MILLER, DH ;

HARDING, AE .

JOURNAL OF MEDICAL GENETICS, 1989, 26 (12) :739-743

[4] DETECTION OF THE G TO A-MITOCHONDRIAL DNA MUTATION AT POSITION 11778 IN GERMAN FAMILIES WITH LEBER HEREDITARY OPTIC NEUROPATHY [J].

KORMANN, BA ;

SCHUSTER, H ;

BERNINGER, TA ;

LEOKOTTLER, B .

HUMAN GENETICS, 1991, 88 (01) :98-100

[5]

MILLER NR, 1982, WALSH HOYTS CLIN NEU, V1, P311

[6] ANALYSIS OF MITOCHONDRIAL-DNA IN LEBER HEREDITARY OPTIC NEUROPATHY [J].

POULTON, J ;

DEADMAN, ME ;

BRONTESTEWART, J ;

FOULDS, WS ;

GARDINER, RM .

JOURNAL OF MEDICAL GENETICS, 1991, 28 (11) :765-770

[7]

VIKKI J, 1989, American Journal of Human Genetics, V45, P206

[8] MITOCHONDRIAL-DNA MUTATION ASSOCIATED WITH LEBERS HEREDITARY OPTIC NEUROPATHY [J].

WALLACE, DC ;

SINGH, G ;

LOTT, MT ;

HODGE, JA ;

SCHURR, TG ;

LEZZA, AMS ;

ELSAS, LJ ;

NIKOSKELAINEN, EK .

SCIENCE, 1988, 242 (4884) :1427-1430

← 1 →