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Table 2 Summary of genetic and molecular data for 5 Chinese families carrying the heteroplasmy A1555G mutation

From: Analysis of the heteroplasmy level and transmitted features in hearing-loss pedigrees with mitochondrial 12S rRNA A1555G mutation

Pedigree Number of matrilineal relatives Number of patients Penetrancea(%) Generation Number of generation Heteroplasmy levelb(%)
Min Max Generation mean Pedigree mean
KM001 25 13 52 II 7 91.02 95.05 93.19 93.34
III 11 91.50 94.16 93.43
KM003 11 2 18.2 II 3 32.87 94.31 69.76 78.28
III 4 58.69 96.08 84.68
KM008 20 2 10 I 1 23.55 23.55 23.55 31.98
II 5 0 43.79 26.63
III 9 0 91.35 35.89
KM009 15 4 26.7 I 1 91.38 91.38 91.38 93.57
II 3 92.21 94.24 93.41
III 2 94.41 94.92 94.67
KM011 34 15 44.1 II 2 87.85 88.69 88.27 87.99
III 12 82.32 90.89 86.78
IV 6 85.87 94.65 90.31
  1. aAffected matrilineal relatives/total matrilineal relatives.
  2. bArea of G allele/(area of A allele + area of G allele).
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BMC Genomic Data

ISSN: 2730-6844

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