Table 1

XRCC1 common SNPs and inferred haplotypesa

SNP IDNucleotide positionGenotypeAmino acid positionAmino acid substitutionAllele frequencyCommon haplotypes
SNP ID 1–17Haplotype frequency (%)
118776T/C72Val/Ala0.028
224737C/AIntronic0.280
326304C/T194Arg/Trp0.1150 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 025.7
426602C/TIntronic0.1030 1 0 0 0 0 0 0 0 0 1 1 0 0 0 0 018.7
526651A/G206Pro/Pro0.2680 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 010.5
626759C/TIntronic0.0120 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 09.2
726760T/AIntronic0.0120 0 0 0 1 0 0 0 1 0 0 0 0 1 0 0 122.7
827772C/TIntronic0.019
927826T/CIntronic0.254
1027853C/GIntronic0.018
1127980A/GIntronic0.259
1228152G/A399Arg/Gln0.238
1332734G/AIntronic0.014
1433543G/AIntronic0.253
1533582G/AIntronic0.016
1635914A/C576Tyr/Ser0.011
1736189G/A632Gln/Gln0.170
  • a Seventeen SNPs in XRCC1 gene with >1% allele frequency were selected based on the resequencing data of the subset of 90 samples from the NIH DNA Polymorphism Discovery Resource. On the basis of the selected 17 SNPs, five common haplotypes were inferred by the Partition-Ligation EM algorithm. These five common haplotypes accounted for ∼87% of the alleles of the mixed population group. Genotyping four bolded SNPs (3, 4, 12, 17) reconstructed the five common haplotypes. “0” stands for more common allele; “1” stands for less common allele.