How old is this mutation? - a study of three Ashkenazi Jewish founder mutations

BMC Genomic Data

Table 2 Estimates of mutation age for APC I1307K.

Method	Estimated mutation age (generations)	Estimated mutation age including correction for growth with r = 1.125	Estimated mutation age including correction for growth with r = 1.21	95% credible interval (DMLE) or 95% confidence interval
Estimate from Niell et al. (2003)[5]	87.9 - 118
Single marker - marker D5S135^1,3	60.9	87.93	79.94
Single marker - marker D5S346^2,3	69.5	117.60	101.56
DMLE	N/A	105.76	69.16	r = 1.21: [56.00, 83.22] r = 1.125: [85.96, 128.62]
Goldgar method³	28	65.57	53.55	r = 1.0: [20-39] r = 1.125: [57.57, 76.57] r = 1.21: [25.55, 64.55]

¹ The recombination fraction used for D5S135 was 0.0046.
² The recombination fraction used for D5S346 was 0.000385.
³ Labuda growth rate corrections are used for the single marker method and the Goldgar method.

ISSN: 2730-6844