Table 1. Observed SMN1 genotype frequencies among carrier screening referrals (n=68 471).
|
1-copy |
2-copy |
≥3-copy |
||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Ethnicity | n | % | 95% CI | n | % | 95% CI | n | % | 95% CI | Total |
| Pan-ethnica | 1162 | 1.7 | (1.6–1.8) | 58 094 | 84.84 | (84.6–85.1) | 9215 | 13.46 | (13.2–13.7) | 68 471 |
| Caucasian | 494 | 2.02 | (1.9–2.2) | 22 252 | 90.93 | (90.6–91.3) | 1725 | 7.05 | (6.7–7.4) | 24 471 |
| Ashkenazi Jewish | 78 | 1.34 | (1.1–1.7) | 4913 | 84.62 | (83.7–85.5) | 815 | 14.04 | (13.2–15.0) | 5806 |
| Asian | 73 | 1.57 | (1.3–2.0) | 4148 | 89.26 | (88.4–90.1) | 426 | 9.17 | (8.4–10.0) | 4647 |
| Hispanic | 101 | 1.32 | (1.1–1.6) | 6406 | 83.68 | (82.9–84.5) | 1148 | 15.0 | (14.2–15.8) | 7655 |
| Asian Indian | 17 | 1.74 | (1.1–2.8) | 808 | 82.79 | (80.4–85.1) | 151 | 15.47 | (13.4–17.9) | 976 |
| African American | 48 | 0.98 | (0.7–1.3) | 2536 | 51.94 | (50.5–53.3) | 2299 | 47.08 | (45.7–48.5) | 4883 |
| Not provided | 290 | 1.68 | (1.5–1.9) | 14 645 | 84.97 | (84.4–85.5) | 2300 | 13.35 | (12.8–13.9) | 17 235 |
Abbreviation: CI, confidence interval.
a
2798 individuals of mixed or other ethnicity are included in the pan-ethnic total of 68 471.