Table 3. Haplotype analysis of paternally inherited alleles in maternal plasma.
Genotype for SNP rs2187610
|
Paternal haplotype analysis†
|
Maternal plasma SABER analysis
|
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---|---|---|---|---|---|---|---|
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, *