Table 4 Comparisons of carrier frequency between this population and this multiethnic population in [19].
From: Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China
Disease in (19) | Gene | Number of variants | Carrier frequency (%) | CF in (19) (%) |
|---|---|---|---|---|
α-thalassemia | HBA1/2 | 46 | 3.64 | 15.12 |
β-thalassemia | HBB | 16 | 1.26 | 4.75 |
Phenylalanine hydroxylase deficiency | PAH | 34 | 2.69 | 3.59 |
Wilson disease | ATP7B | 28 | 2.21 | 1.96 |
DFNB1 | GJB2 | 21 | 1.66 | 1.66 |
DFNB4/PDS | SLC26A4 | 23 | 1.82 | 1.59 |
Pompe disease | GAA | 12 | 0.95 | 0.75 |
ARPKD | PKHD1 | 5 | 0.40 | 0.56 |
HPABH4A | PTS | 6 | 0.47 | 0.25 |
Galactosemia | GALT | 5 | 0.40 | 0.12 |
Dystrophinopathies (female only) | DMD | 1 | 0.10 | 0.12 |
