Table 4.
Microsatellite genotyping of the four Fanconi anemia (FA) samples and healthy controls from the 1 kGP
| Sample | Callable MST | Homozygous | Heterozygous | Minor alleles |
|---|---|---|---|---|
| FA1 | 5,395 | 95.4 | 4.6 | 7.6 |
| FA2 | 5,011 | 94.9 | 5.1 | 7.7 |
| FA_RV1 | 5,818 | 94.9 | 5.1 | 9.2 |
| FA_RV2 | 4,519 | 95.0 | 5.0 | 9.3 |
| HG02003 | 4,485 | 96.6 | 3.4 | 5.5 |
| HG02008 | 3,834 | 97.1 | 2.9 | 4.5 |
| HG02009 | 3,211 | 96.6 | 3.4 | 4.0 |
| HG02010 | 4,158 | 95.6 | 4.4 | 6.1 |
On average, 8.4% of the callable Microsatellite (MST) loci have minor alleles, while only 5% of the callable MSTs in 1 kGP samples have minor alleles, indicating a statistically higher rate of mutations in MSTs in the Fanconi anemia samples.