Table 2 BChE activity and genetic variants of BCHE gene identified by Sanger sequencing
Subjects | BChE activity(U/L) | Exon 1 | Exon 2 | Exon 3 | `Exon 4 |
|---|---|---|---|---|---|
Father | 8606.0 | None | c.73A > T A/T, p.Lys25Ter, no report | None | 1) c.1699G > A G/A, p.Ala567Thr, rs1803274,1000G frequency:CHB(A = 16.99%)/CHS(A = 10.95%)* 2) 3’UTR *189G > A G/A, rs3495, 1000G frequency:CHB(A = 76.21%)/CHS(A = 78.57%) 3) 3’UTR *288_289insT T/T, rs397762799 |
Mother | 5003.0 | None | c.401_402insA A/−, p.Asn134Lysfs*23, rs764588882 | None | 1) 3’UTR *189G > A A/A, rs3495, 1000G frequency:CHB(A = 76.21%)/CHS(A = 78.57%) 2) 3’UTR *288_289insT T/T, rs397762799 |
Brother | 11,322.0 | None | None | None | 1) c.1699G > A G/A, p.Ala567Thr, rs1803274, 1000G frequency:CHB(A = 16.99%)/CHS(A = 10.95%) 2) 3’UTR *189G > A G/A, rs3495 1000G frequency:CHB(A = 76.21%)/CHS(A = 78.57%) 3) 3’UTR *288_289insT T/T, rs397762799 |
Patient | 32.0 | None | 1) c.73A > T A/T, p.Lys25Ter 2) c.401_402insA A/−, p.Asn134Lysfs*23, rs764588882 | None | 1) 3’UTR *189G > A G/A, rs3495, 1000G frequency:CHB(A = 76.21%)/CHS(A = 78.57%) 2) 3’UTR *288_289insT T/T, rs397762799 |