Table 5.
Total Mendelian inheritance errors (MIEs) within families and most likely cause, by cohort and laboratorya, T1DGC, July 4, 2009
| Families typed |
Identifiable (most likely) cause
(N and % of all MIEs) |
|||||
|---|---|---|---|---|---|---|
| Source of T1DGC/existing cohort family | Total (N) | Number w/MIE (%) | Genotyping error | Sample mix-up | Cryptic relatedness | Unresolved |
| T1DGC cohorts | ||||||
| Asia-Pacific | 579 | 26 (4.5) | 12 (46.2) | 4 (15.4) | 6 (23.1) | 4 (15.4) |
| European | 1287 | 23 (1.8) | 3 (13.0) | 7 (30.4) | 13 (56.5) | 0 (0.0) |
| North American I | 1385 | 32 (2.3) | 7 (21.9) | 15 (46.9) | 10 (31.3) | 0 (0.0) |
| North American II | 1385 | 33 (2.4) | 8 (24.2) | 15 (45.5) | 10 (30.3) | 0 (0.0) |
| United Kingdom | 169 | 3 (1.8) | 2 (66.7) | 1 (33.3) | 0 (0.0) | 0 (0.0) |
| Subtotal | 3420 | 92 (2.7) | 32 (34.8) | 27 (29.3) | 29 (31.5) | 4 (4.3) |
| Existing cohorts | ||||||
| European | 225 | 24 (10.7) | 0 (0.0) | 0 (0.0) | 24 (100.0) | 0 (0.0) |
| North American I | 286 | 5 (1.7) | 2 (40.0) | 1 (20.0) | 2 (40.0) | 0 (0.0) |
| North American II | 286 | 6 (2.1) | 3 (50.0) | 1 (16.7) | 2 (33.3) | 0 (0.0) |
| United Kingdom | 424 | 37 (8.7) | 0 (0.0) | 4 (10.8) | 28 (75.7) | 5 (13.5) |
| Subtotal | 935 | 69 (7.4) | 5 (7.2) | 5 (7.2) | 54 (78.3) | 5 (7.2) |
| Total | 4355 | 161 (3.7) | 37 (23.0) | 32 (19.9) | 83 (51.6) | 9 (5.6) |
Results are reported as number of families with ≥1 MIE (N) and percentage of total MIEs (%) and shown for each HLA Laboratory, stratified into T1DGC and existing cohort families. In NA, separate HLA Laboratories genotype HLA class I and class II linear arrays, but results for the NA I + NA II Laboratories are combined and North American families are counted once. Sample mix-up means prior to HLA Laboratory sample handling, i.e., at the recruitment clinic or network DNA Repository. Cryptic relatedness means that there is most likely a discrepancy between self-reported and biological relatedness within the genotyped family. The European Laboratory assayed the United Kingdom T1DGC and existing cohort family samples.