Table 3. Haplotype analysis of paternally inherited alleles in maternal plasma
Genotype for SNP rs2187610
Paternal haplotype analysis
Maternal plasma SABER analysis
Case Mother Father HBB mutant allele HBB wild-type allele SNP G allele Paternal HBB mutation Fetal HBB genotype
3 CC GC G C Neg Neg */*
11 CC GC G C Pos Pos F/*
12 CC GC G C Neg N.A. */*
  • Neg, negative; Pos, positive; N.A., not applicable.

  • G and C denote the rs2187610 allele linked to the mutant or wild-type paternal HBB alleles, respectively

  • The fetal genotype determined by conventional methods is indicated by the inheritance of the paternal mutation F, the maternal mutation M, or the normal allele, *