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Table 1 Parent haplotype genotype group

From: Clinical application of non-invasive prenatal diagnosis of phenylketonuria based on haplotypes via paired-end molecular tags and weighting algorithm

Type Paternal genotype Maternal genotype Proband genotype The proportion of pathogenic haploid mutations (PE) The proportion of benign haploid mutations (BE) Note
S1 0/0 0/1 0/0 ME-e/2 ME Determination of maternal haploid genotype
S2 0/0 0/1 0/1 ME ME-e/2  
S3 1/1 0/1 0/1 ME ME+e/2  
S4 1/1 0/1 1/1 ME+e/2 ME  
S5 0/1 0/0 0/0 0 e/2 Determination of paternal haploid genotype
S6 0/1 0/0 0/1 e/2 0  
S7 0/1 1/1 0/1 1-e/2 1  
S8 0/1 1/1 1/1 1 1-e/2