Relative intensities of TaqI and BglII bands, and size of the SacII bands, after hybridisation to CYP21A2 and C4 cDNA probes
| CYP21A2 probe pC21/3c | C4 probe pAT-A | CYP21A2 and C4 probes | |||
|---|---|---|---|---|---|
| TaqI | BglII | TaqI | Sacll | ||
| 3.7 : 3.2* | 2.5 : 2.4† | 12 : 11 | 7.0 : 6.4 : 6.0 : 5.4‡ | Band sizes | |
| Ratios were measured by laser densitometry; ++, +: estimate, ++ indicating a higher intensity. | |||||
| *3.7 kb: CYP21A2 gene; 3.2 kb: CYP21A1P pseudogene (fig 1). | |||||
| †2.5 kb: TNXB gene; 2.4 kb: TNXA pseudogene (fig 1). | |||||
| ‡7.0 kb: long C4 gene in the most telomeric RCCX module; 5.4 kb: short C4 gene in a non-telomeric RCCX module (fig 1); 6.4 kb and 6.0 kb (alternatives not shown in fig 1): short telomeric and long non-telomeric C4 genes, respectively; the C4 band sizes are those traditionally given in published reports,5 although the actual fragments are approximately 0.15 kb larger. | |||||
| Father | 2 : 2 | ++ : ++ | 2 : 2 | 2 : 0 : 1 : 1 | 76 and 70 kb |
| Mother | 2 : 2 | ++ : ++ | 2 : 2 | 2 : 0 : 1 : 1 | 76 and 70 kb |
| Patient | 1 : 2 | + : ++ | 1 : 2 | 2 : 0 : 0 : 1 | 43 and 70 kb |
| Twin brothers | 2 : 2 | ++ : ++ | 2 : 2 | 2 : 0 : 2 : 0 | Not determined |
| Sister | 2 : 2 | ++ : ++ | 2 : 2 | 2 : 0 : 1 : 1 | Not determined |