Skip to main content
. Author manuscript; available in PMC: 2019 Jun 5.
Published in final edited form as: Hum Reprod. 2018 Jul 1;33(7):1331–1341. doi: 10.1093/humrep/dey114

Table 2. Average heteroplasmy levels and moment estimated bottleneck sizes for carriers with the m.3243A>G, m.8993T>G and m.14487T>C mutation using the Kimura distribution.

MOMENT ESTIMATED KIMURA DISTRIBUTION
carrier n p0, heteroplasmy in samples
(average ± SEM)		 b Effective bottleneck size (Neff)
(value [95% CI])
m.3243A>G #1 26 0.42 ± 0.04 0.83   83.1       [36-116]
m.3243A>G #2 16 0.34 ± 0.05 0.84   86.5       [45-134]
m.3243A>G #3 13 0.41 ± 0.07 0.73  48.7        [23-93]
m.3243A>G #4 26 0.33 ± 0.04 0.85   92.4       [55-127]
m.3243A>G #5 10 0.16 ± 0.04 0.90 145.4       [67-349]
All m.3243A>G 91 0.35 ± 0.02 0.82  73.6        [53-93]
m.8993T>G 46 0.05 ± 0.03 0.21   9.6         [7-27]
m.14487T>C 23 0.66 ± 0.07 0.50  21.7        [19-76]

n, number of unique offspring (oocytes, embryos or zygotes) for every carrier