Table 4.
Polymorphisms | Family 25 | Isolated cases | |||||||||
Position | Nucleotide change | BR22 | BR23 | BR99 | BR100 | BR101 | BR102 | BR103 | BR175 | BR342 | TBL 38 |
M | w.t. | w.t. | M | M | M | w.t. | M | M | M | ||
EX2 | 203G>A | G>A | G-G | G>A | A-A | A-A | A-A | G-G | G>A | G>A | G>A |
INTR8 | IVS8+56C>T | C-C | C-C | C>T | C>T | C-C | C-C | C-C | C>T | C-C | C>T |
EX10B | 1342A>C | A>C | C-C | A-A | A-A | A-A | A-A | C-C | A-A | A-A | A-A |
EX11-J | 3624A>G | A>G | A-A | A>G | G-G | G-G | G-G | A-A | A>G | A>G | A>G |
EX11K | 4035T>C | T-T | T-T | T>C | T-T | T-T | T-T | T-T | T-T | T>C | T-T |
INTR11Q | IVS11+80del4 | -4/4 | 4/4 | -4/4 | -4/-4 | -4/4 | -4/-4 | 4/4 | -4/4 | -4/4 | -4/4 |
EX14A | 7470A>G | A>G | A-A | A>G | G-G | G-G | G-G | A-A | A>G | A>G | A>G |
INTR17 | IVS16-14T>C | T>C | T>C | T>C | C-C | C-C | C-C | T>C | C-C | T>C | T>C |
M: mutated; w.t.: wild-type; numbers in bold indicate the shared allele.