PRELIMINARY EXCLUSION OF AN X-LINKED GENE IN LEBER OPTIC ATROPHY BY LINKAGE ANALYSIS
PRELIMINARY EXCLUSION OF AN X-LINKED GENE IN LEBER OPTIC ATROPHY BY LINKAGE ANALYSIS
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DOI：
10.1007/bf00291154
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发表时间：
1989-06-01
期刊：
影响因子：
5.3
通讯作者：
DENTON, MJ
中科院分区：
文献类型：
--
作者：
CHEN, JD;COX, I;DENTON, MJ
Leber视神经萎缩的母系遗传提示它可能是由细胞质或线粒体缺陷引起的。然而，这种强烈的男性偏见和严格的组织特异性不能简单地用单个线粒体基因缺陷来解释。华莱士提出了一种假设，即这种疾病可能是X连锁基因和线粒体DNA缺陷之间相互作用的结果。对三个塔斯马尼亚家系的Leber视神经萎缩与15个X染色体标记的连锁关系进行了分析。两点连锁分析的结果显示Leber视神经萎缩与15个标记中的任何一个都没有紧密的连锁关系。多点连锁分析的结果表明，在这些家系中，假设的X连锁基因几乎从整个X染色体中排除在外。
The maternal inheritance in Leber optic atrophy suggests that it may be caused by a cytoplasmic or mitochondrial defect. However, the strong male bias and the strict tissue specificity can not be readily explained by a single mitochondrial gene defect alone. Wallace suggested a hypothesis that the disease could be the result of an interaction between an X-linked gene and a mitochondrial DNA defect. Linkage relationships between Leber optic atrophy and 15 X-chromosome markers were analyzed in three large Tasmanian families. The results of two-point linkage analysis showed no close linkage between Leber optic atrophy and any of the 15 markers. The results of multipoint linkage analysis suggested the exclusion of the assumed X-linked gene from almost the whole X chromosome in these families.