Table 1 Carrier rates of pathogenic genes for each target disease in the 320 subjects who underwent ECS
From: Clinical application value of expanded carrier screening in the population of childbearing age
Disease | Disease gene | Number of carriers (n, case) | Carrier rate (%) |
|---|---|---|---|
Hereditary deafness | GJB2 | 14 | 4.38 |
SLC26A4 | 12 | 3.75 | |
Wilson's disease | ATP7B | 13 | 4.06 |
Congenital adrenal hyperplasia | CYP21A2 | 9 | 2.81 |
Spinal muscular atrophy | SMN1 | 8 | 2.50 |
Phenylketonuria | PAH | 8 | 2.50 |
PTS | 2 | 0.63 | |
Thalassemia | HBA1/HBA2 | 5 | 1.56 |
HBB | 1 | 0.31 | |
Methylmalonic acidemia | MMACHC | 4 | 1.25 |
MMUT | 1 | 0.31 | |
Fragile X syndrome | FMR1 | 1 | 0.31 |