Table 2 KCNJ2 expression in lymphoblasts(QPCR).
| Sample | Gender | Expression values of KCNJ2 A | Expression values of KCNJ2 B |
|---|---|---|---|
| PRS 1 | XY | 2.5 | 1.2 |
| PRS 2 | XY | 3.0 | 1.0 |
| PRS 3 | XX | 2.0 | 1.6 |
| PRS 4 | XY | 2.7 | 3.0 |
| PRS 5 | XX | 1.0 | 2.1 |
| PRS mean (range) | 2.2 (1.0–3.0) | 1.8 (1.0–3.0) | |
| PRS 6 t(2;17) | XX | 3.7 | 2.5 |
| C 1 | XY | 8.2 | 2.1 |
| C 2 | XX | 70.3 | 23.7 |
| C 3 | XY | 2.4 | 1.2 |
| C 4 | XY | 10.8 | 4.3 |
| C 5 | XX | 31.2 | 16.3 |
| C 6 | XY | 17.1 | 5.6 |
| C 7 | XX | 35.2 | 20.0 |
| C 8 | XX | 6.7 | 1.1 |
| C 9 | XY | 27.6 | 30.4 |
| C 10 | XX | 7.6 | 2.3 |
| C 11 | XY | 70.3 | 29.1 |
| C mean (range) | 26.1 (2.4–70.3) | 12.3 (1.1–30.4) | |
| p Value | 0.007 | 0.05 |
PRS, Pierre Robin sequence; PRS 1–6, six patients with PRS, PRS 6 is the translocation patient; C 1–11, controls.
As the expression of KCNJ2 was low, QPCR was performed with two different primer sets A and B (supplementary table). The expression value of KCNJ2 was normalised to the mean values of the housekeeping genes UBC, YWHAZ, B2M, G6PD and GAPDH. Mean values of the housekeeping genes were calculated using the BestKeeper software tool.13
The experiments were run in duplicate and repeated twice. Values of PRS 1–5 and C 1–11 were compared and p values were calculated using the two‐tailed Mann–Whitney U test.