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. 2023 Nov 14;142(12):1747–1754. doi: 10.1007/s00439-023-02611-8

Table 2.

Age estimation of the Machado lineage in MJD families based on the genotyping of 7 STRs flanking the ATXN3_CAG repeat

Haplotype No
families
Mutation steps (n) Age ± δ (years)
ε = 0.01051 ε = 0.01222
H1: 10–20-10–18–7–19–24 47 0 3724 ± 804 3211 ± 693
H2: 10–20– 9–18–7 –19–24 7 1
H3: 10–19–10–18–7 –19–24 1 1
H4: 11–24– 9–18–7–19–24 6 1
H5: 16–21–9–18–7–19–24 1 1
H6: 16–23–9–18–7–19–24 1 3
H7: 16–25–10–18–7–19–24 9 6
H8: 17–25–10–18–7–19–24 5 7
H9: 17–26–10–18–7–19–24 1 8
H10: 17–25–10–19–7–19–24 1 8
H11: 16–19– 9 –13–7–19–26 1 4
H12: 10–20–10–18–7–15–24 2 1

δ—Standard deviation

ε—Probability of change per generation

1Recombination rate (θ) based on the physical distance between the two most distant STRs

2Recombination rate (θ) based on the recombinant haplotypes observed in families