Haplotype analysis for 6 families with the 149+5G>A mutation and 2 families with the 407T>C (I136T) mutation
Family . | Haplotype . | Mutation . |
|---|---|---|
| 10 in Zhang et al6 | N/D-C-C-C-N/D-17 | 149+5G>A |
| 12 in Zhang et al6 | N/D-C-C-C-N/D-17 | 149+5G>A |
| B3 | N/D-A-C-C-N/D-19 | 149+5G>A |
| B4 | N/D-A-C-C-N/D-18 | 149+5G>A |
| B5 | N/D-A-C-C-N/D-19 | 149+5G>A |
| B10 | N/D-C-T-G-N/D-19 | 149+5G>A |
| 9 in Zhang et al6 | 19/22-C-C-C-19-20 | I136T |
| B9 | 19-C-C-C-18/19-18/19 | I136T |
Family . | Haplotype . | Mutation . |
|---|---|---|
| 10 in Zhang et al6 | N/D-C-C-C-N/D-17 | 149+5G>A |
| 12 in Zhang et al6 | N/D-C-C-C-N/D-17 | 149+5G>A |
| B3 | N/D-A-C-C-N/D-19 | 149+5G>A |
| B4 | N/D-A-C-C-N/D-18 | 149+5G>A |
| B5 | N/D-A-C-C-N/D-19 | 149+5G>A |
| B10 | N/D-C-T-G-N/D-19 | 149+5G>A |
| 9 in Zhang et al6 | 19/22-C-C-C-19-20 | I136T |
| B9 | 19-C-C-C-18/19-18/19 | I136T |
Three single-nucleotide polymorphisms located at the nucleotides 2895, 3099, and 3116 relative to the initiation codon of LMAN1 mRNA, as well as 2 CA repeat markers (BZ1 and D2S2227), were genotyped. Haplotypes are shown in the format BZ1 (CA repeat numbers)-C2895A-C3099T-C3116G-D2S2227 (CA repeat number)-BZ20 (GAAA repeat number).
N/D indicates genotyping not done for this marker.