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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