Allele frequencies of ABCB4 variants identified following sequence analysis of the coding exons of ABCB4 in 14 cases of ICP with raised GGT and of the previously reported 1986A>G variant13
| DNA variant | Exon | Diagnostic method | Raised GGT (n=34) | Normal GGT (n=39) | Unknown GGT (n=111) | Controls (n=65) |
|---|---|---|---|---|---|---|
| 481 G>A (R150K) | 6 | MseI digest | GG = 33 | GG = 38 | GG = 111 | GG= 65 |
| AG = 1 | AG = 1 | AG = 0 | AG = 0 | |||
| AA = 0 | AA = 0 | AA = 0 | AA = 0 | |||
| 536 T>C | 6 | Sequencing | TT = 10 | TT = 10 | TT = 46 | TT = 15 |
| TC = 15 | TC = 23 | TC = 44 | TC = 36 | |||
| CC = 9 | CC = 6 | CC = 21 | CC = 14 | |||
| 743A>T | 8 | HinfI digest | AA = 31 | AA = 30 | AA = 86 | AA = 42 |
| AT = 3 | AT = 9 | AT = 21 | AT = 21 | |||
| TT = 0 | TT = 0 | TT = 4 | TT = 2 | |||
| 1986A>G (R652G) | 16 | TspRI digest | AA = 28 | AA = 33 | AA = 96 | AA = 58 |
| AG = 6 | AG = 6 | AG = 15 | AG = 6 | |||
| GG = 0 | GG = 0 | GG = 0 | GG = 1 | |||
| 2372C>T | 19 | Cac8I digest | CC = 33 | CC = 39 | CC = 110 | CC =65 |
| C/T = 1 | C/T = 0 | C/T = 1 | CT = 0 | |||
| TT = 0 | TT = 0 | TT = 0 | TT = 0 |