Leber’s hereditary optic neuroretinopathy and the X-chromosomal susceptibility factor: No linkage to DXS7

M. R.S. Carvalho; B. Müller; E. Rötzer; T. Beminger; G. Kommerell; A. Blankenage; M. L. Savontaus; T. Meitinger; B. Lorenz

doi:10.1159/000154089

Leber’s hereditary optic neuroretinopathy and the X-chromosomal susceptibility factor: No linkage to DXS7

M. R.S. Carvalho
, B. Müller
, E. Rötzer
, T. Beminger
, G. Kommerell
, A. Blankenage
, M. L. Savontaus
, T. Meitinger
, B. Lorenz

University of Munich
Universidade Federal de Minas Gerais
University of Freiburg
University Hospital Heidelberg
University of Turku and Turku University Hospital
Klinikum der Universität Regensburg und Medizinische Fakultät

Research output: Contribution to journal › Article › peer-review

36 Scopus citations

Abstract

Leber’s hereditary optic neuroretinopathy (LHON) was the first human disease for which mitochondrial inheritance was demonstrated. Analysis of genealogies, however, suggests the existence of an interacting X-linked factor, and linkage to DXS7 was recently described. We tested this location in four LHON families, with DXS7 and two flanking markers, OTC and DXS426. We found recombinations with DXS7 in two families and with DXS426 in one. The two point lod scores to DXS7 were negative with all the allele frequencies for the X- linked factor tested (q = 0.5; 0.35; 0.05).

Original language	English
Pages (from-to)	316-320
Number of pages	5
Journal	Human Heredity
Volume	42
Issue number	5
DOIs	https://doi.org/10.1159/000154089
State	Published - 1992
Externally published	Yes

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

DXS426
DXS7
LHON
Leber’s hereditary optic neuroretinopathy
Mitochondrial disease
OTC
Susceptibility gene
X chromosome Optic atrophy

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10.1159/000154089

Cite this

@article{1461e850cc5c4ab183b1aa78a07ffe33,

title = "Leber{\textquoteright}s hereditary optic neuroretinopathy and the X-chromosomal susceptibility factor: No linkage to DXS7",

abstract = "Leber{\textquoteright}s hereditary optic neuroretinopathy (LHON) was the first human disease for which mitochondrial inheritance was demonstrated. Analysis of genealogies, however, suggests the existence of an interacting X-linked factor, and linkage to DXS7 was recently described. We tested this location in four LHON families, with DXS7 and two flanking markers, OTC and DXS426. We found recombinations with DXS7 in two families and with DXS426 in one. The two point lod scores to DXS7 were negative with all the allele frequencies for the X- linked factor tested (q = 0.5; 0.35; 0.05).",

keywords = "DXS426, DXS7, LHON, Leber{\textquoteright}s hereditary optic neuroretinopathy, Mitochondrial disease, OTC, Susceptibility gene, X chromosome Optic atrophy",

author = "Carvalho, \{M. R.S.\} and B. M{\"u}ller and E. R{\"o}tzer and T. Beminger and G. Kommerell and A. Blankenage and Savontaus, \{M. L.\} and T. Meitinger and B. Lorenz",

year = "1992",

doi = "10.1159/000154089",

language = "English",

volume = "42",

pages = "316--320",

journal = "Human Heredity",

issn = "0001-5652",

publisher = "S. Karger AG",

number = "5",

}

TY - JOUR

T1 - Leber’s hereditary optic neuroretinopathy and the X-chromosomal susceptibility factor

T2 - No linkage to DXS7

AU - Carvalho, M. R.S.

AU - Müller, B.

AU - Rötzer, E.

AU - Beminger, T.

AU - Kommerell, G.

AU - Blankenage, A.

AU - Savontaus, M. L.

AU - Meitinger, T.

AU - Lorenz, B.

PY - 1992

Y1 - 1992

N2 - Leber’s hereditary optic neuroretinopathy (LHON) was the first human disease for which mitochondrial inheritance was demonstrated. Analysis of genealogies, however, suggests the existence of an interacting X-linked factor, and linkage to DXS7 was recently described. We tested this location in four LHON families, with DXS7 and two flanking markers, OTC and DXS426. We found recombinations with DXS7 in two families and with DXS426 in one. The two point lod scores to DXS7 were negative with all the allele frequencies for the X- linked factor tested (q = 0.5; 0.35; 0.05).

AB - Leber’s hereditary optic neuroretinopathy (LHON) was the first human disease for which mitochondrial inheritance was demonstrated. Analysis of genealogies, however, suggests the existence of an interacting X-linked factor, and linkage to DXS7 was recently described. We tested this location in four LHON families, with DXS7 and two flanking markers, OTC and DXS426. We found recombinations with DXS7 in two families and with DXS426 in one. The two point lod scores to DXS7 were negative with all the allele frequencies for the X- linked factor tested (q = 0.5; 0.35; 0.05).

KW - DXS426

KW - DXS7

KW - LHON

KW - Leber’s hereditary optic neuroretinopathy

KW - Mitochondrial disease

KW - OTC

KW - Susceptibility gene

KW - X chromosome Optic atrophy

UR - https://www.scopus.com/pages/publications/0026592199

U2 - 10.1159/000154089

DO - 10.1159/000154089

M3 - Article

C2 - 1360941

AN - SCOPUS:0026592199

SN - 0001-5652

VL - 42

SP - 316

EP - 320

JO - Human Heredity

JF - Human Heredity

IS - 5

ER -

Leber’s hereditary optic neuroretinopathy and the X-chromosomal susceptibility factor: No linkage to DXS7

Abstract

UN SDGs

Keywords

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