Table 2 Summary of the sequence variants in the promoter region of the CES1 gene.
From: High-resolution physical map for chromosome 16q12.1-q13, the Blau syndrome locus
| Â | Â | Â | Genotypes at locations | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Sample | Gender | Pheno-type | 939 | 968 | 975 | 993 | 994 | 1012 | 1024 | 1028 | 1029 | 1032 | 1047 | 1081 | 1087 |
Blau-01 | F | U | G/T | G/G | G/G | C/C | G/G | G/G | C/C | T/T | C/C | G/G | G/G | G/G | T/T |
Blau-02 | F | A | G/G | G/G | G/G | C/C | G/G | G/G | C/C | T/T | C/C | G/G | G/G | G/G | T/T |
Blau-03 | F | U | T/T | A/A | A/A | G/G | A/A | C/C | G/G | C/C | T/T | A/A | T/T | A/A | T/A |
Blau-04 | F | U | T/T | A/A | A/A | G/G | A/A | C/C | G/G | C/C | T/T | A/A | T/T | A/A | A/A |
Blau-05 | F | U | T/T | A/A | A/A | G/G | A/A | C/C | G/G | C/C | T/T | A/A | T/T | A/A | T/A |
Blau-06 | F | U | T/T | A/A | A/A | G/G | A/A | C/C | G/G | C/C | T/T | A/A | T/T | A/A | T/A |
Blau-07 | M | A | T/T | A/A | A/A | G/G | A/A | C/C | G/G | C/C | T/T | A/A | T/T | A/A | A/A |
Blau-08 | F | U | T/T | A/A | A/A | G/G | A/A | C/C | G/G | C/C | T/T | A/A | T/T | A/A | T/A |
Blau-09 | F | U | T/T | A/A | A/A | G/G | A/A | C/C | G/G | C/C | T/T | A/A | T/T | A/A | T/A |
Blau-10 | F | A | T/T | A/A | A/A | G/G | A/A | C/C | G/G | C/C | T/T | A/A | T/T | A/A | T/A |
Blau-23 | F | U | G/T | A/A | A/A | G/G | A/A | C/C | G/G | C/C | T/T | A/A | T/T | A/A | T/A |
Blau-24 | M | U | G/T | G/A | G/A | G/C | G/A | G/C | G/C | T/C | T/C | G/A | G/T | G/A | T/T |
Blau-25 | M | U | G/T | G/A | G/A | G/C | G/A | G/C | G/C | T/C | T/C | G/A | G/T | G/A | T/T |
Blau-26 | M | A | G/T | G/A | G/A | G/C | G/A | G/C | G/C | T/C | T/C | G/A | G/T | G/A | T/A |
Blau-27 | F | A | G/T | G/A | G/A | G/C | G/A | G/C | G/C | T/C | T/C | G/A | G/T | G/A | T/A |
Blau-28 | F | U | G/T | G/A | G/A | G/C | G/A | G/C | G/C | T/C | T/C | G/A | G/T | G/A | T/A |
Blau-29 | M | A | G/G | G/A | G/A | G/C | G/A | G/C | G/C | T/C | T/C | G/A | G/T | G/A | T/A |
Blau-30 | M | U | G/T | G/A | G/A | G/C | G/A | G/C | G/C | T/C | T/C | G/A | G/T | G/A | T/A |
Blau-31 | M | A | G/T | G/A | G/A | G/C | G/A | G/C | G/C | T/C | T/C | G/A | G/T | G/A | T/T |
Blau-11 | F | U | T/T | A/A | A/A | G/G | A/A | C/C | G/G | C/C | T/T | A/A | T/T | A/A | T/T |
Blau-12 | F | A | T/T | G/A | G/A | G/G | A/A | C/C | G/G | C/C | T/T | A/A | T/T | A/A | T/T |
Blau-13 | F | U | T/T | G/A | G/A | G/G | A/A | C/C | G/G | C/C | T/T | A/A | T/T | A/A | T/T |
Blau-14 | F | U | T/T | A/A | A/A | G/G | A/A | C/C | G/G | C/C | T/T | A/A | T/T | A/A | T/T |
Blau-33 | M | A | T/T | G/G | G/G | G/C | G/A | G/C | G/C | T/C | T/C | G/A | G/T | G/A | T/T |
Blau-15 | F | A | G/T | A/A | A/A | G/G | A/A | C/C | G/G | C/C | T/T | A/A | T/T | A/A | T/A |
Blau-16 | M | A | G/T | A/A | G/A | G/G | A/A | C/C | G/G | C/C | T/T | A/A | T/T | A/A | T/A |
Blau-17 | F | A | T/T | A/A | A/A | G/G | A/A | C/C | G/G | C/C | T/T | A/A | T/T | A/A | T/T |
Blau-18 | F | U | T/T | A/A | A/A | G/G | A/A | C/C | G/G | C/C | T/T | A/A | T/T | A/A | T/T |
Blau-19 | F | A | T/T | A/A | A/A | G/G | A/A | C/C | G/G | C/C | T/T | A/A | T/T | A/A | T/T |
Blau-20 | M | U | T/T | A/A | A/A | G/G | A/A | C/C | G/G | C/C | T/T | A/A | T/T | A/A | T/T |
Blau-21 | M | A | G/T | A/A | G/A | G/G | A/A | C/C | G/G | C/C | T/T | A/A | T/T | A/A | T/A |
Blau-22 | M | U | G/T | A/A | G/A | G/G | A/A | C/C | G/G | C/C | T/T | A/A | T/T | A/A | T/A |
Blau-32 | M | A | G/T | G/A | G/A | G/C | G/A | G/C | G/C | T/C | T/C | G/A | G/T | G/A | T/A |