Table 1 Direct detection results of the disease-causing mutations in Polar bodies
Case No. | Maternal mutations | Oocyte retrieval cycle No. | Oocyte No. | Cell type (Sample NO.) | Direct detection results of the variants in polar bodies | Deduced risk of embryos carrying the mutations | The number of low-risk embryos |
|---|---|---|---|---|---|---|---|
1 | IRF6 c.784 C > T Het. | 1 | F1-1 | PB1 (F1-1-PB1) | Wt. (Mutant allele drop-out) | High | 2 |
PB2 (F1-1-PB2) | Wt. | ||||||
F1-2 | PB1 (F1-2-PB1) | IRF6 c.784 C > T Homo. | Uncertain (Probably Low) | ||||
PB2 (F1-2-PB2) | Wt. | ||||||
F1-3 | PB1 (F1-3-PB1) | IRF6 c.784 C > T Het. | High | ||||
PB2 (F1-3-PB2) | Wt. | ||||||
F1-4 | PB1 (F1-4-PB1) | Wt. | Uncertain (Probably High) | ||||
PB2 (F1-4-PB2) | IRF6 c.784 C > T Hemi. | ||||||
F1-5 | PB1 (F1-5-PB1) | IRF6 c.784 C > T Het. | High | ||||
PB2 (F1-5-PB2) | Wt. | ||||||
F1-6 | PB1 (F1-6-PB1) | IRF6 c.784 C > T Homo. | Uncertain (Probably Low) | ||||
PB2 (F1-6-PB2) | Wt. | ||||||
2 | FMR1 CGG repeat number 29/90 | 1 | F2-C1-1 | PB1 (F2-C1-1-PB1) | Mutant allele Homo. | Low | 1 |
PB2 (F2-C1-1-PB2) | Normal allele Hemi. | ||||||
2 | F2-C2-1 | PB1 (F2-C2-1-PB1) | Mutant allele Homo. | Low | 1 | ||
PB2 (F2-C2-1-PB2) | Detection failure | ||||||
F2-C2-2 | PB1 (F2-C2-2-PB1) | Normal allele Homo. (Mutant allele drop-out) | High | ||||
PB2 (F2-C2-2-PB2) | Normal allele Hemi. | ||||||
3 | EDA c.784 C > T Het. | 1 | F3-1 | PB1 (F3-1-PB1) | EDA c.1045G > A Homo. | Uncertain (Probably Low) | 3 |
PB2 (F3-1-PB2) | Detection failure | ||||||
F3-2 | PB1 (F3-2-PB1) | Wt. (Mutant allele drop-out) | High | ||||
PB2 (F3-2-PB2) | Wt. | ||||||
F3-3 | PB1 (F3-3-PB1) | Wt. | Uncertain (Probably High) | ||||
PB2 (F3-3-PB2) | EDA c.1045G > A Hemi. | ||||||
F3-4 | PB1 (F3-4-PB1) | EDA c.1045G > A Homo. | Uncertain (Probably Low) | ||||
PB2 (F3-4-PB2) | Wt. | ||||||
F3-5 | PB1 (F3-5-PB1) | EDA c.1045G > A Het. | High | ||||
PB2 (F3-5-PB2) | Wt. | ||||||
F3-6 | PB1 (F3-6-PB1) | EDA c.1045G > A Homo. | Uncertain (Probably Low) | ||||
PB2 (F3-6-PB2) | Wt. |