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  • Title: Preliminary exclusion of an X-linked gene in Leber optic atrophy by linkage analysis.
    Author: Chen JD, Cox I, Denton MJ.
    Journal: Hum Genet; 1989 Jun; 82(3):203-7. PubMed ID: 2731932.
    Abstract:
    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.
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