莱伯遗传性视神经视网膜病变中的视神经萎缩可能由一个与DXS7紧密连锁的X染色体基因所决定。
Optic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7.
作者信息
Vilkki J, Ott J, Savontaus M L, Aula P, Nikoskelainen E K
机构信息
Department of Medical Genetics, University of Turku, Finland.
出版信息
Am J Hum Genet. 1991 Mar;48(3):486-91.
Leber hereditary optic neuroretinopathy (LHON) is a maternally inherited disease, probably transmitted by mutations in mtDNA. The variation in the clinical expression of the disease among family members has remained unexplained, but pedigree data suggest an involvement of an X-chromosomal factor. We have studied genetic linkage of the liability to develop optic atrophy to 15 polymorphic markers on the X chromosome in six pedigrees with LHON. The results show evidence of linkage to the locus DXS7 on the proximal Xp. Tight linkage to the other marker loci was excluded. Multipoint linkage analysis placed the liability locus at DXS7 with a maximum lod score (Zmax) of 2.48 at a recombination fraction (theta) of .0 and with a Zmax - 1 support interval theta = .09 distal to theta = .07 proximal of DXS7. No evidence of heterogeneity was found among different types of families, with or without a known mtDNA mutation associated with LHON.
Leber遗传性视神经视网膜病变（LHON）是一种母系遗传疾病，可能由线粒体DNA（mtDNA）突变传递。该疾病在家庭成员中的临床表型差异一直无法解释，但家系数据表明存在X染色体因素的参与。我们研究了六个LHON家系中发生视神经萎缩易感性与X染色体上15个多态性标记的遗传连锁关系。结果显示与Xp近端的DXS7位点存在连锁证据。排除了与其他标记位点的紧密连锁。多点连锁分析将易感性位点定位在DXS7，在重组率（θ）为0时最大对数优势分数（Zmax）为2.48，在DXS7近端θ = 0.07和远端θ = 0.09处Zmax - 1支持区间为θ = 0.09。在不同类型的家系中，无论是否存在与LHON相关的已知mtDNA突变，均未发现异质性证据。
Zotero 插件