Skip to main content

Table 4 Haplotypes of four families based on genetic linkage analyses

From: Development of preimplantation genetic testing for monogenic reference materials using next-generation sequencing

Family

Family relationship

Haplotype of HBA

Genotypes of HBA

Haplotype of HBB

Genotypes of HBB

Family 1

Husband 1

/

/

F0/F1

Codons 41/42(-TTCT)/βN

Wife 1

/

/

M0/M1

Gγ(Aγδβ)0N

Offspring 1–1 (Proband)

/

/

M0/F0

Codons 41/42(-TTCT)/Gγ(Aγδβ)0

Offspring 1–2 (Simulated embryo)

/

/

M0/F1

Gγ(Aγδβ)0N

Family 2

Husband 2

F0/F1

--SEA/αα

/

/

Wife 2

M0/M1

ααCS/αα

/

/

Offspring 2 − 1 (Proband)

M0/F0

--SEA/ααCS

/

/

Offspring 2–2 (Simulated embryo)

M0/F1

ααCS/αα

/

/

Family 3

Husband 3

/

/

F0/F1

Gγ(Aγδβ)0N

Wife 3

/

/

M0/M1

Codons 41/42(-TTCT)/βN

Offspring 3 − 1 (Proband)

/

/

M0/F0

Gγ(Aγδβ)0/ Codons 41/42(-TTCT)

Offspring 3 − 2 (Simulated embryo)

/

/

M1/F0

Gγ(Aγδβ)0N

Family 4

Husband 4

/

/

F0/F1

IVS-II-654 (C > T)/βN

Wife 4

/

/

M0/M1

IVS-II-654 (C > T)/βN

Offspring 4 − 1 (Proband)

/

/

M0/F0

IVS-II-654 (C > T)/IVS-II-654 (C > T)

Offspring 4 − 2 (Simulated embryo)

/

/

M1/F0

IVS-II-654 (C > T)/βN