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

BMC Medical Genomics

Table 3 Genotype verification of thalassemia PGT-M RMs

Family	No.	Family relationship	Genotypes	Lab 1	Lab 2	Lab 3	Lab 4
Family 1	1	Husband 1	–α^3.7/αα, Codons 41/42(-TTCT)/β^N	√	√	√	√
	2	Wife 1	Gγ(Aγδβ)⁰/β^N	√	√	√	√
	3	Offspring 1–1 (Proband)	Codons 41/42(-TTCT)/Gγ(Aγδβ)⁰	√	√	√	√
	4	Offspring 1–2 (Simulated embryo)	–α^3.7/αα, Gγ(Aγδβ)⁰/β^N	√	√	√	√
Family 2	5	Husband 2	--^SEA/αα	√	√	√	√
	6	Wife 2	α^CSα/αα	√	√	√	√
	7	Offspring 2 − 1 (Proband)	--^SEA/α^CSα	√	√	√	√
	8	Offspring 2–2 (Simulated embryo)	α^CSα/αα	√	√	√	√
Family 3	9	Husband 3	Gγ(Aγδβ)⁰/β^N	√	√	√	√
	10	Wife 3	Codons 41/42(-TTCT)/β^N	√	√	√	√
	11	Offspring 3 − 1 (Proband)	Codons 41/42(-TTCT)/Gγ(Aγδβ)⁰	√	√	√	√
	12	Offspring 3 − 2 (Simulated embryo)	Gγ(Aγδβ)⁰/β^N	√	√	√	√
Family 4	13	Husband 4	IVS-II-654 (C > T)/β^N	√	√	√	√
	14	Wife 4	--^SEA/αα, IVS-II-654 (C > T)/β^N	√	√	√	√
	15	Offspring 4 − 1 (Proband)	--^SEA/αα, IVS-II-654 (C > T)/IVS-II-654 (C > T)	√	√	√	√
	16	Offspring 4 − 2 (Simulated embryo)	IVS-II-654 (C > T)/β^N	√	√	√	√

ISSN: 1755-8794