Noninvasive prenatal diagnosis of monogenic disorders based on direct haplotype phasing through targeted linked-read sequencing

Chen, Chao; Chen, Min; Zhu, Yaping; Jiang, Lu; Li, Jia; Wang, Yaoshen; Lu, Zhe; Guo, Fengyu; Wang, Hairong; Peng, Zhiyu; Yang, Yun; Sun, Jun

doi:10.1186/s12920-021-01091-x

Table 1 Clinical information of the participating families

From: Noninvasive prenatal diagnosis of monogenic disorders based on direct haplotype phasing through targeted linked-read sequencing

Family	Disease	Gene	Genotypes of the Trios			GA	FF (%)
Family	Disease	Gene	Mat	Pat	Fetus (Mat/Pat)	GA	FF (%)
F01	β-thalassemia	HBB	c.316-197C>T /N	c.-78A>G/N	N/N	12⁺⁴	9.3
F02	β-thalassemia	HBB	c.126_129delCTTT/N	c.126_129delCTTT/N	N/N	20⁺⁵	15.9
F03	β-thalassemia	HBB	c.126_129delCTTT/N	c.-78A>G/N	c.126_129delCTTT/c.-78A>G	12⁺³	15.4
F04	β-thalassemia	HBB	c.316-197C>T /N	c.126_129delCTTT/N	N/c.126_129delCTTT	18	12.1
F05	β-thalassemia	HBB	c.126_129delCTTT/N	c.316-197C>T /N	c.126_129delCTTT/N	13⁺⁶	20.6
F06	β-thalassemia	HBB	c.216_217insA/T/N	c.126_129delCTTT/N	c.216_217insA/T/ c.126_129delCTTT	13⁺²	26.8
F07	β-thalassemia	HBB	c.79G>A/N	c.126_129delCTTT/N	N/c.126_129delCTTT	11⁺³	12.3
F08	β-thalassemia	HBB	c.126_129delCTTT/N	c.316-197C>T/N	c.126_129delCTTT/N	12⁺³	16.5
F09	β-thalassemia	HBB	c.52A>T/N	c.84_85insC/N	c.52A>T/N	12⁺¹	27.7
F10	β-thalassemia	HBB	c.126_129delCTTT/N	c.79G>A/N	c.126_129delCTTT/c.79G>A	11⁺¹	17.7
F11	β-thalassemia	HBB	c.126_129delCTTT/N	c.126_129delCTTT/N	c.126_129delCTTT/c.126_129delCTTT	17	8.1
F12	β-thalassemia	HBB	c.126_129delCTTT/N	c.126_129delCTTT/N	N/c.126_129delCTTT	17	9.7
F13	α-thalassemia	HBA	- -^SEA/N	- -^SEA/N	- -^SEA/- -^SEA	13⁺³	15.7
F14	α-thalassemia	HBA	- -^SEA/N	- -^SEA/N	N/N	11⁺⁶	13.7
F15	α-thalassemia	HBA	- -^SEA/N	- -^SEA/N	N/- -^SEA	12⁺⁴	17.5
F16	α-thalassemia	HBA	- -^SEA/N	- -^SEA/N	- -^SEA/- -^SEA	11⁺³	23.5
F17	α-thalassemia	HBA	- -^SEA/N	c.369C>G/N	- -^SEA/c.369C>G	18	6.7
F18	MMA	MMACHC	c.609G>A/N	c.609G>A/N	c.609G>A/N	19	16.5
F19	MMA	MMACHC	c.656-658delAGA/N	c.609G>A/N	N/c.609G>A	18	14.2
F20	MMA	MMACHC	c.609G>A/N	c.656-658delAGA/N	N/N	16	12.8
F21	MMA	MMACHC	c.656-658delAGA/N	c.609G>A/N	N/N	17	10.4
F22	MMA	MMACHC	c.80A>G/N	c.609G>A/N	c.80A>G/N	17	10.2
F23	MMA	MMACHC	c.609G>A/N	c.441TG[2]/N	c.609G>A/c.441TG[2]	17	10.1
F24	MMA	MMACHC	c.609G>A/N	c.609G>A/N	N/N	18	17.8
F25	MMA	MMACHC	c.80A>G/N	c.609G>A/N	N/N	17	13.7
F26	MMA	MMACHC	c.609G>A/N	c.658-660delAAG/N	c.609G>A/c.658-660delAAG	17	9.8
F27	MMA	MMACHC	c.609G>A/N	c.445-446delTG/N	N/N	17	10.4
F28	MMA	MMACHC	c.482G>A/N	c.445-446delTG/N	N/N	17	8.2
F29	MMA	MMACHC	c.315C>G/N	c.609G>A/N	c.315C>G/N	16	6.5
F30	MMA	MMACHC	c.609G>A/N	c.609G>A/N	N/N	17⁺⁵	8.0
F31	PKU	PAH	c.1197A>T/N	c.764T>C/N	c.1197A>T/c.764T>C	18	7.3
F32	PKU	PAH	c.992T>C/N	c.770G>T/N	N/c.770G>T	17	7.5
F33	PKU	PAH	c.1045T>G/N	c.728G>A/N	N/N	18	11.3
F34	PKU	PAH	c.728G>A/N	c.611A>G/N	N/N	20	5.9
F35	PKU	PAH	c.977G>A/N	c.1238G>C/N	c.977G>A/N	17	21.2
F36	PKU	PAH	c.473G>A/N	c.208_210delTCT	c.473G>A/c.208_210delTCT	18	12.8
F37	PKU	PAH	c.1223G>A/N	c.727C>T/N	N/N	12	8.5
F38	PKU	PAH	c.728G>A/N	c.721C>T/N	c.728G>A/c.721C>T	12	7.2
F39	ARPKD	PKHD1	c.11042T>G/N	c.5137G>T /N	N/c.5137G>T	12⁺⁶	15.0
F40	DFNB1A	GJB2	c.235delC/N	c.299-300delAT/N	c.235delC/N	13⁺¹	15.3

FF fetal fraction, GA gestational age, N Normal, PKU phenylketonuria, MMA methylmalonic academia, ARPKD autosomal recessive polycystic kidney disease, DFNB1A autosomal recessive deafness-1A

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