Table 2 Genotyping of SEC23B – Y462C mutation in patients with CDA and family members using HRM analysis and Sanger sequencing
Family | Number | Relationship | Clinical Diagnosis | Nucleotide change | Amino acid change | |
|---|---|---|---|---|---|---|
Sanger Sequencing | HRM analysis | |||||
F1 | I – 1 | Mother | Normal | TAT/TGT | TAT/TGT | N/Y462C |
I – 2 | Father | Normal | TAT/TGT | TAT/TGT | N/Y462C | |
II – 1 | Daughter | Normal | TAT/TAT | TAT/TAT | N/N | |
II − 2 | Son | CDA | TGT/TGT | TGT/TGT | Y462C/Y462C | |
F2 | I – 1 | Mother | Normal | TAT/TGT | TAT/TGT | N/Y462C |
I – 2 | Father | Normal | TAT/TGT | TAT/TGT | N/Y462C | |
II – 1 | Son | CDA | TGT/TGT | TGT/TGT | Y462C/Y462C | |
II – 2 | Daughter | Normal | Not Done | Not Done | Not Done | |
II − 3 | Daughter | Normal | Not Done | Not Done | Not Done | |
F3 | I – 1 | Mother | Normal | TAT/TGT | TAT/TGT | N/Y462C |
I – 2 | Father | Normal | TAT/TGT | TAT/TGT | N/Y462C | |
II − 1 | Son | CDA | TGT/TGT | TGT/TGT | Y462C/Y462C | |
F4 | I – 1 | Mother | Normal | TAT/TGT | TAT/TGT | N/Y462C |
I – 2 | Father | Normal | TAT/TGT | TAT/TGT | N/Y462C | |
II- 1 | Daughter | Normal | TAT/TGT | TAT/TGT | N/Y462C | |
II – 2 | Daughter | CDA | TGT/TGT | TGT/TGT | Y462C/Y462C | |
II − 3 | Son | Normal | TAT/TGT | TAT/TGT | N/Y462C | |
F5 | I – 1 | Mother | Normal | TAT/TGT | TAT/TGT | N/Y462C |
I – 2 | Father | Normal | TAT/TGT | TAT/TGT | N/Y462C | |
II – 1 | Son | Normal | TAT/TAT | TAT/TAT | N/N | |
II – 2 | Daughter | Normal | Not Done | Not Done | Not Done | |
II − 3 | Son | CDA | TGT/TGT | TGT/TGT | Y462C/Y462C | |
F6 | I – 1 | Mother | Normal | TAT/ TGT | TAT/ TGT | N/Y462C |
I – 2 | Father | Normal | TAT/ TGT | TAT/ TGT | N/Y462C | |
II − 1 | Son | CDA | TGT/ TGT | TGT/ TGT | Y462C/Y462C | |
F7 | I – 1 | Mother | Normal | TAT/ TGT | TAT/ TGT | N/Y462C |
I – 2 | Father | Normal | TAT/ TGT | TAT/ TGT | N/Y462C | |
II – 1 | Daughter | Normal | TAT/ TGT | TAT/ TGT | N/Y462C | |
II – 2 | Daughter | CDA | TGT/ TGT | TGT/ TGT | Y462C/Y462C | |
II − 3 | Son | CDA | TGT/ TGT | TGT/ TGT | Y462C/Y462C | |
F8 | I – 1 | Mother | Normal | TAT/ TGT | TAT/ TGT | N/Y462C |
I – 2 | Father | Normal | TAT/ TGT | TAT/ TGT | N/Y462C | |
II – 1 | Son | CDA | TGT/ TGT | TGT/ TGT | Y462C/Y462C | |
II − 2 | Son | Normal | TAT/ TGT | TAT/ TGT | N/Y462C | |
F9 | I – 1 | Mother | Normal | TAT/ TGT | TAT/ TGT | N/Y462C |
I – 2 | Father | Normal | TAT/ TGT | TAT/ TGT | N/Y462C | |
II – 1 | Daughter | Normal | TAT/ TGT | TAT/ TGT | N/Y462C | |
II – 2 | Son | CDA | TGT/ TGT | TGT/ TGT | Y462C/Y462C | |
II − 3 | Daughter | Normal | TAT/ TGT | TAT/ TGT | N/Y462C | |
F10 | I – 1 | Mother | Normal | TAT/ TGT | TAT/ TGT | N/Y462C |
I – 2 | Father | Normal | TAT/ TGT | TAT/ TGT | N/Y462C | |
II – 1 | Daughter | Not Done | Not Done | Not Done | Not Done | |
II − 2 | Daughter | CDA | TGT/ TGT | TGT/ TGT | Y462C/Y462C | |