Table 6.
AJ origin of grandparents by region, carrier status, and allele frequency of two common HEXA mutations (N = 12,840)
| Regional groups | Total (N = 12,840), n (% of N) |
Non-carrier (N1 = 12,332), n (% of N1) | Carrier (N2 = 508), n (% of N2) | Absolute carrier frequency ratio (%) | c.1278insTATC (N3 = 376), n (% of N3) | c.1278insTATC carrier frequency ratio (%) | c.1421 + 1G > C (N4 = 96), n (% of N4) | c.1421 + 1G > C carrier frequency ratio (%) |
|---|---|---|---|---|---|---|---|---|
| Europe (all) | 7,005 (54.5) | 6,740 (54.7) | 265 (52.1) | 1: 26 (3.8) | 217 (57.8) | 1:32 (3.1) | 22 (22.9) | 1:318 (0.3) |
| North Eastern Europe | 4,310 (33.6) | 4,166 (33.8) | 144 (28.3) | 1:30 (3.3) | 113 (30.1) | 1:39 (2.6) | 20 (20.8) | 1:215 (0.5) |
| Southern Africa | 2,672 (20.8) | 2,534 (20.5) | 138 (27.2) | 1:19 (5.2) | 75 (19.9) | 1:36 (2.8) | 55 (57.3) | 1:49 (2.1) |
| South Eastern Europe | 1,489 (11.6) | 1,428 (11.6) | 61 (12.0) | 1:24 (4.1) | 59 (15.7) | 1:25 (4.0) | 2 (2.1) | 1:745 (0.1) |
| Western Europe | 969 (7.5) | 919 (7.5) | 50 (9.8) | 1: 19 (5.2) | 38 (10.1) | 1:26 (3.9) | 0 (0.0) | Unknown (0) |
| Australia/New Zealand | 1,172 (9.1) | 1,134 (9.2) | 38 (7.5) | 1:31 (3.2) | 34 (9.0) | 1:34 (2.9) | 4 (4.2) | 1:293 (0.3) |
| UK | 785 (6.1) | 762 (6.2) | 23 (4.5) | 1:34 (2.9) | 17 (4.5) | 1:46 (2.2) | 4 (4.2) | 1:196 (0.5) |
| Uncertain | 606 (4.7) | 590 (4.8) | 16 (3.1) | 1:38 (2.6) | 9 (2.4) | 1:67 (1.5) | 7 (7.3) | 1:87 (1.2) |
| Other | 350 (2.7) | 335 (2.7) | 15 (3.0) | 1:23 (4.3) | 13 (3.5) | 1:27 (3.7) | 2 (2.1) | 1:175 (0.6) |
| Unspecified Europe | 237 (1.8) | 227 (1.8) | 10 (2.0) | 1:24 (4.2) | 7 (1.9) | 1:34 (3.0) | 0 (0.0) | Unknown (0) |
| North Africa/Middle East | 53 (0.4) | 45 (0.4) | 8 (1.6) | 1:7 (15.1) | 8 (2.1) | 1:7 (15.1) | 0 (0.0) | Unknown (0) |
| Israel/Palestine | 197 (1.5) | 192 (1.6) | 5 (1.0) | 1:39 (2.5) | 3 (0.8) | 1:66 (1.5) | 2 (2.1) | 1:99 (1.0) |
N.B. The carrier category contains n = 376 grandparents of a c.1278insTATC carrier, 96 grandparents of a c.1421 + 1G > C carrier and 40 grandparents of subjects with other mutations