Table 1.
Single-Allele Sequencing Results of MOGS-CDG-Affected Individuals
| Sample | MOGS c.65C>A | MOGS c.329G>A | MOGS c.370C>T | Ind. A, Fibroblast (n = 130) | Ind. B, Fibroblast (n = 126) | Ind. A, Blooda(n = 100) | Ind. B, Blooda(n = 108) | Ind. A, Bloodb(n = 3,896) | Ind.B, Bloodb(n = 5,305) |
|---|---|---|---|---|---|---|---|---|---|
| Genotype and Frequency | A | A | T | 7.69% | 3.97% | 4% | 6.48% | 3.26% | 3.05% |
| C∗ | G∗ | C∗ | 6.92% | 13.49% | 0 | 6.48% | 3.82% | 2.53% | |
| A | G∗ | C∗ | 19.23% | 13.49% | 0 | 0 | 2.62% | 2.21% | |
| C∗ | A | C∗ | 10.00% | 7.14% | 2% | 2.78% | 3.80% | 3.02% | |
| C∗ | A | T | 3.85% | 6.35% | 0 | 0.93% | 1.13% | 0.60% | |
| A | G∗ | T | 11.54% | 14.29% | 0 | 2.78% | 3.52% | 1.79% | |
| A | A | C∗ | 27.69% | 15.87% | 45% | 50.93% | 69.99% | 83.03% | |
| C∗ | G∗ | T | 7.69% | 25.40% | 49% | 29.63% | 11.86% | 3.77% | |
| Total non-parental clonesa/readsb | 59.23% | 58.73% | 6% | 19.44% | 18.15% | 13.20% | |||
Single-allele cloning and sequencing and PacBio amplicon sequencing reveal non-parental genotypes in the fibroblast- and blood-derived DNA from individuals (Ind.) A and B. The total number (n) of alleles sequenced is indicated for each sample type. The allele genotype at each of the three variant sites is shown in the first three columns; reference alleles are indicated with an asterisk. Each row represents a single allele and the allelic percentage among the sequenced population from fibroblast or blood genomic DNA is shown in the adjacent columns as indicated. The last two rows of allele genotypes represent the inherited, parental genotypes.
Single-allele cloning and sequencing.
PacBio amplicon sequencing.