MITOCHONDRIAL-DNA MUTATION IN AN ITALIAN FAMILY WITH LEBER HEREDITARY OPTIC NEUROPATHY

被引：7

作者：

CARDUCCI, C

LEUZZI, V

SCUDERI, M

DENEGRI, AM

GABRIELI, CB

ANTONOZZI, I

PONTECORVI, A

机构：

[1] UNIV LA SAPIENZA,DEPT EXPTL MED,GENET & METAB DIS SECT,VIA SABELLI 108,I-00185 ROME,ITALY

[2] UNIV ROME LA SAPIENZA,INST CHILD NEUROPSYCHIAT,I-00185 ROME,ITALY

[3] UNIV ROME LA SAPIENZA,INST OPHTHALMOL,I-00185 ROME,ITALY

来源：

HUMAN GENETICS | 1991年 / 87卷 / 06期

关键词：

D O I：

10.1007/BF00201733

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Mitochondrial (mt) DNA from a Southern Italian family with Leber hereditary optic neuropathy was analyzed for the presence of the reported mutation at position 11778 of the ND4 subunit gene. The point mutation was found in mt DNA extracted from peripheral blood in all members of the family with the exclusion of the father, and was present in a homoplasmic fashion, despite the phenotypic heterogeneity of disease presentation among family members.

引用

页码：725 / 727

页数：3

共 11 条

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GURPARKASH S, 1988, SCIENCE, V242, P1427

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