Table 2 EIF2B2, 4 and 5 mutations tested with restriction enzymes.
Mutation tested: nucleotides changes (amino acid changes) | Mutated gene | Restriction enzyme used | PCR product size (base pairs) | Restriction profile (number of restriction fragments: their size in base pairs) | ||
|---|---|---|---|---|---|---|
No mut* | Het mut* | Hom mut* | ||||
C512T (S171F) | EIF2B2 | Hpy188III | 251 | 4 fragments: 51, 29, 16 and 155 bp. | 5 fragments: 51, 29, 16, 155 and 171 bp. | 3 fragments: 51, 29 and 171 bp. |
607–612del/insTG (M203fs) | EIF2B2 | HphI | 313 | 2 fragments: 310 and 3 bp. | 4 fragments: 310, 142, 164 and 3 bp. | 3 fragments: 142, 164 and 3 bp. |
C547T (R183stop) | EIF2B2 | EcoNI | 253 | 2 fragments: 120 and 133 bp. | 4 fragments: 120, 133, 14 and 119 bp. | 3 fragments: 120, 14 and 119 bp. |
A638G (E213G) | EIF2B2 | BsmAI | 313 | 2 fragments: 153 and 160 bp. | 3 fragments: 313, 160 and 153 bp. | 1 fragment: 313 bp |
P243L (C728T) | EIF2B4 | AciI | 612 | 3 fragments: 353, 223 and 36 bp. | 4 fragments: 576, 353, 223 and 36 bp. | 2 fragments: 576 and 36 bp. |
R374C (C1120T) | EIF2B4 | HpyCH4IV | 640 | 2 fragments: 447 and 193 bp. | 3 fragments: 640, 447 and 193 bp. | 1 fragment: 640 bp. |
T1393C (C465R) | EIF2B4 | BsrDI | 694 | 3 fragments: 368, 32 and 294 bp. | 4 fragments: 368, 32, 294 and 326 bp. | 2 fragments: 368 and 326 bp. |
T1465C (Y489H) | EIF2B4 | NlaIII | 707 | 3 fragments: 109, 310 and 288 bp. | 5 fragments: 109, 310, 288, 57 and 231 bp. | 4 fragments: 109, 310, 57 and 231 bp. |
G338A (R113H) | EIF2B5 | Fnu4HI | 800 | 3 fragments: 115, 633 and 52 bp. | 4 fragments: 115, 633, 52 and 748 bp. | 2 fragments: 748 and 52 bp. |