Table 1.
Sequence Variants Identified in BLM, WRN, andRECQL.
| Locus | SNP name | Position | Variation |
| BLM | B4.1 (IVS1-2056lt-c) | 21812a | T→C |
| B4.2 (IVS1-20290g-a) | 22083a | G→A | |
| B11 (IVS5-302a-g) | 79526 | A→G | |
| B16 (IVS16-954a-g) | 118225 | A→G | |
| B18.1 (IVS17-425a-g) | 122762a | T→C | |
| B18.2 (IVS17-345c-g) | 122842a | C→G | |
| B20 (IVS22-2082c-a) | 136931a | G→T | |
| B21.1 (IVS22+3336c-g) | 142615a | C→G | |
| B21.2 (IVS22+3401a-c) | 142680a | A→C | |
| B22 (IVS22+9303c-t) | 148582a | G→A | |
| WRN | W1 (IVS1-8213g-a) | 6114a | G→A |
| W5 (IVS4+176a-g) | 45121a | T→C | |
| W10 (IVS17+1084c-a) | 78453 | C→A | |
| W12.1 (IVS19-3173t-c) | 88968a | T→C | |
| W12.2 (IVS19-3145t-a) | 88996a | T→A | |
| W15.1 (IVS24-210c-a) | 111587 | C→A | |
| W15.2 (IVS24-209a-g) | 111588 | A→G | |
| W15.3 (IVS24-191c-t) | 111606a | G→A | |
| W18.1 (IVS32+845c-t) | 135048a | G→A | |
| W18.2 (IVS32+859g-t) | 135062a | G→T | |
| W20 (IVS34-628t-g) | 145865a | A→C | |
| W22 (IVS35+4302t-c) | 157465a | T→C | |
| W23 (IVS35+11737g-c) | 164900a | G→C | |
| W26.1 (IVS53+30673c-t) | 183836a | G→A | |
| W26.2 (IVS35+30764c-a) | 183927a | G→T | |
| RECQL | R2 (IVS1-89964t-g) | 10998a | A→C |
| R8 (IVS1-55823a-g) | 45139 | A→G | |
| R10 (IVS1-4258lt-c) | 58381a | T→C | |
| R12.1 (IVS1-30638g-c) | 70324a | G→C | |
| R12.2 (IVS1-30329g-t) | 70633a | G→T | |
| R13.1 (IVS1-24228g-a) | 76734a | G→A | |
| R13.2 (IVS1-24159c-t) | 76803a | G→A | |
| R15.1 (IVS1-7216a-g) | 93746a | T→C | |
| R15.2 (IVS1-7166g-a) | 93796a | G→A | |
| R19 (IVS10-1078g-a) | 113771a | G→A | |
| R25 (IVS15+19546t-c) | 152798a | T→C | |
| R27 (IVS15+33444t-c) | 166696a | T→C |
-
SNP positions base pairs are based on the reference sequence. In bold are SNP names used throughout this paper. B, W, and R are forBLM, WRN, and RECQL, respectively. Numbers denote the PCR product within which the SNP was detected in a 5′ to 3′ gene orientation. SNPs within the same PCR product are denoted “.1” and “.2.” In parentheses are SNP names according to the Committee on Mutation Nomenclature (Adhoc Committee on Mutation Nomenclature, 1996).a denote SNPs used in the haplotype analysis.
