Table 2 of Hudson, Mol Vis 2007; 13:2339-2343.


Table 2. Comparison of X-inactivation ratios in high and low penetrance Leber hereditary optic neuropathy families harboring the 14484T>C and 11778G>A Leber hereditary optic neuropathy mtDNA mutations.

Frequency of different degrees of X-skewing in high and low penetrance Leber hereditary optic neuropathy (LHON) families harboring the 14484T>C and 11778G>A LHON mtDNA mutations. There was no significant difference between the different groups.

                         High penetrance               Low penetrance
                       ---------------------          ---------------------
                       14484T>C and 1778G>A           14484T>C and 1778G>A
                          belonging to                  not belonging to
                        mtDNA haplogroup J             mtDNA haplogroup J
                       ---------------------          ---------------------
X-inactivation ratio   Affected   Unaffected    p     Affected   Unaffected    p
--------------------   --------   ----------   ----   --------   ----------   ----
<30:70 or >70:30       2          11           0.71   12         28           0.24
<20:80 or >80:20       2          10           1.0    7          17           0.31
<10:90 or >10:90       0          7            0.32   4          6            0.18
<5:95 or >9:95         0          2            1.0    0          4            0.57
Total                  10         38                  24         78

Hudson, Mol Vis 2007; 13:2339-2343 <http://www.molvis.org/molvis/v13/a265/>
©2007 Molecular Vision <http://www.molvis.org/molvis/>
ISSN 1090-0535