Fig. S1.
Confirmation of MARSALA results in case 1 with Sanger sequencing, STR linkage analysis, and CGH array. The DNA templates for these analyses were also from the products of MALBAC amplification from the same biopsy. (A) Sanger sequencing results of two representative embryos, E04 and E06, showed that embryo E06 carried the mutated allele whereas embryo E04 was normal, free of the mutated allele. Sanger sequencing results of the other 16 embryos are shown in Fig. S2. These results were all consistent with MARSALA, except for embryo E09, likely because of the lower sensitivity of the Sanger sequencing method. (B) Array CGH verification of chromosome abnormalities in some embryos. The data showed that embryo E12 was monosomy 8, E14 had deletion or duplication in part of chromosome 3, and E18 was trisomy 22; these findings are consistent with our low-depth sequencing results. (C) STR linkage analysis showed that embryos E05, E06, E09, E10, E11, E12, and E16 had the mutant allele; this finding is consistent with our MARSALA results.