Literature DB >> 1360941

Leber's hereditary optic neuroretinopathy and the X-chromosomal susceptibility factor: no linkage to DXs7.

M R Carvalho1, B Müller, E Rötzer, T Berninger, G Kommerell, A Blankenagel, M L Savontaus, T Meitinger, B Lorenz.   

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).

Entities:  

Mesh：

Substances：

Year:  1992        PMID： 1360941     DOI： 10.1159/000154089

Source DB:  PubMed          Journal:  Hum Hered        ISSN： 0001-5652            Impact factor:   0.444


  14 in total

1.  Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder.

Authors:  Gavin Hudson; Sharon Keers; Patrick Yu-Wai-Man; Philip Griffiths; Kirsi Huoponen; Marja-Liisa Savontaus; Eeva Nikoskelainen; Massimo Zeviani; Franco Carrara; Rita Horvath; Veronika Karcagi; Liesbeth Spruijt; I F M de Coo; Hubert J M Smeets; Patrick F Chinnery
Journal:  Am J Hum Genet       Date:  2005-10-11       Impact factor: 11.025

2.  No evidence for 'skewed' inactivation of the X-chromosome as cause of Leber's hereditary optic neuropathy in female carriers.

Authors:  R J Oostra; S Kemp; P A Bolhuis; E M Bleeker-Wagemakers
Journal:  Hum Genet       Date:  1996-04       Impact factor: 4.132

3.  Compensatory elevation of complex II activity in Leber's hereditary optic neuropathy.

Authors:  M Y Yen; H C Lee; J H Liu; Y H Wei
Journal:  Br J Ophthalmol       Date:  1996-01       Impact factor: 4.638

4.  Evidence against an X-linked visual loss susceptibility locus in Leber hereditary optic neuropathy.

Authors:  R M Chalmers; M B Davis; M G Sweeney; N W Wood; A E Harding
Journal:  Am J Hum Genet       Date:  1996-07       Impact factor: 11.025

5.  A gene for X-linked optic atrophy is closely linked to the Xp11.4-Xp11.2 region of the X chromosome.

Authors:  J J Assink; N T Tijmes; J B ten Brink; R J Oostra; F C Riemslag; P T de Jong; A A Bergen
Journal:  Am J Hum Genet       Date:  1997-10       Impact factor: 11.025

6.  Reevaluation of the linkage of an optic atrophy susceptibility gene to X-chromosomal markers in Finnish families with Leber hereditary optic neuroretinopathy (LHON)

Authors:  V Juvonen; J Vilkki; P Aula; E Nikoskelainen; M L Savontaus
Journal:  Am J Hum Genet       Date:  1993-07       Impact factor: 11.025

Review 7.  Molecular basis of mitochondrial DNA disease.

Authors:  M D Brown; D C Wallace
Journal:  J Bioenerg Biomembr       Date:  1994-06       Impact factor: 2.945

8.  Meiotic breakpoint mapping of a proposed X linked visual loss susceptibility locus in Leber's hereditary optic neuropathy.

Authors:  H Y Handoko; P J Wirapati; H A Sudoyo; M Sitepu; S Marzuki
Journal:  J Med Genet       Date:  1998-08       Impact factor: 6.318

9.  Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation.

Authors:  A E Harding; M G Sweeney; G G Govan; P Riordan-Eva
Journal:  Am J Hum Genet       Date:  1995-07       Impact factor: 11.025

10.  Evaluation of the X-linked modifier loci for Leber hereditary optic neuropathy with the G11778A mutation in Chinese.

Authors:  Yanli Ji; Xiaoyun Jia; Shiqiang Li; Xueshan Xiao; Xiangming Guo; Qingjiong Zhang
Journal:  Mol Vis       Date:  2010-03-11       Impact factor: 2.367
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.