SSCP Screening for Mutations in 87 Unrelated Cases of SCID Due to IL2RG Defects
| IL2RG Exon . | Primers Surrounding Exons (forward/reverse) . | Product Size (bp) . | No. of Mutations . | Mutations With Abnormal SSCP . | SSCP Sensitivity (%) . |
|---|---|---|---|---|---|
| 1 | aagctatgacagaggaaacgtg/aggcaccagatctctgtacg | 292 | 6 | 4 | 67 |
| 2 | catttctctttccctccctgc/gagaaaacagtggggtacctgg | 297 | 5 | 4 | 80 |
| 3 | tgcagtacccagattggcc/tccaatgtcccacagtatccc | 291 | 16 | 11 | 69 |
| 4 | ggtattaggggcactaccttcagg/ggccttagctgctacattcacg | 254 | 14 | 13 | 93 |
| 5 | agtagcacagatgacactggtgg/tagaaaggctggggtgttgg | 312 | 23 | 21 | 91 |
| 6 | cagtgcctggcatgtagtagg/accctcctctgctattgtcagc | 225 | 11 | 11 | 100 |
| 7 | tttggtgatggaaggaagcc/acactctgtctgtcttgctggc | 271 | 11 | 7 | 64 |
| 8 | tcctgcccctaattgaccc/cttagggctacaggaccctgg | 276 | 1 | 1 | |
| All exons | 87 | 72 | 83 |
| IL2RG Exon . | Primers Surrounding Exons (forward/reverse) . | Product Size (bp) . | No. of Mutations . | Mutations With Abnormal SSCP . | SSCP Sensitivity (%) . |
|---|---|---|---|---|---|
| 1 | aagctatgacagaggaaacgtg/aggcaccagatctctgtacg | 292 | 6 | 4 | 67 |
| 2 | catttctctttccctccctgc/gagaaaacagtggggtacctgg | 297 | 5 | 4 | 80 |
| 3 | tgcagtacccagattggcc/tccaatgtcccacagtatccc | 291 | 16 | 11 | 69 |
| 4 | ggtattaggggcactaccttcagg/ggccttagctgctacattcacg | 254 | 14 | 13 | 93 |
| 5 | agtagcacagatgacactggtgg/tagaaaggctggggtgttgg | 312 | 23 | 21 | 91 |
| 6 | cagtgcctggcatgtagtagg/accctcctctgctattgtcagc | 225 | 11 | 11 | 100 |
| 7 | tttggtgatggaaggaagcc/acactctgtctgtcttgctggc | 271 | 11 | 7 | 64 |
| 8 | tcctgcccctaattgaccc/cttagggctacaggaccctgg | 276 | 1 | 1 | |
| All exons | 87 | 72 | 83 |