Results of clonality assays for 31 healthy young controls
| Sample . | Allelic frequencies (%) of expressed exonic polymorphisms in granulocyte RNA . | HUMARA assay* . | |||||||
|---|---|---|---|---|---|---|---|---|---|
| MPP1 G/T (qTCA)† . | MPP1 G/T (P)‡ . | FHL1 C/T (qTCA)† . | FHL1 C/T (P)‡ . | IDS C/T (qTCA)† . | IDS C/T (P)‡ . | Genotype§ . | Allele ratios DNA . | Allele ratios RNA . | |
| YC1 | 46/54 | 44/56 | 50/50 | 48/52 | 275/283 | 64:36‖ | 55:45 | ||
| YC4 | 30/70 | 37/62 | 70/30 | 62/38 | 275/292 | 33:67 | 67:33 | ||
| YC7 | 37/64 | 21/79 | 275/281 | 45:55 | 64:36 | ||||
| YC9 | 66/34 | 57/43 | 34/66 | 38/62 | 44/56 | 41/56 | 260/270 | 60:40 | 53:47 |
| YC10 | 43/57 | 38/61 | 47/53 | 45/55 | 45/55 | 43/57 | 258/278 | 40:60 | 49:51 |
| YC11 | 42/58 | 49/51 | 55/45 | 43/57 | 267/272 | 47:53 | 58:42 | ||
| YC13 | 41/59 | 31/69 | 267/287 | 27:73 | 47:53 | ||||
| YC14 | 30/70 | 31/69 | 86/14 | 62/38 | 272/278 | 48:52 | 38:62 | ||
| YC15 | 45/65 | 41/58 | 264/275 | 48:52 | 56:44 | ||||
| YC20 | 65/35 | 65/35 | 40/60 | 57/43 | 60/40 | 68/32 | 281/287 | 39:61 | 52:48 |
| YC22 | 27/73 | 23/77 | 43/57 | 39/61 | 266/269 | 33:67 | 39:61 | ||
| YC24 | 45/55 | 44/56 | 258/281 | 46:54 | 79:21 | ||||
| YC25 | 51/49 | 51/49 | 269/289 | 48:52 | 84:16 | ||||
| YC26 | 38/62 | 33/67 | 263/283 | 51:49 | 54:46 | ||||
| YC27 | 77/23 | 76/24 | 78/22 | 75/25 | 272/275 | 68:32 | 56:44 | ||
| YC30 | 48/52 | 49/51 | 266/269 | 49:51 | 50:50 | ||||
| YC31 | 55/45 | 51/49 | 58/42 | 50/50 | 263/272 | 40:60 | 48:52 | ||
| YC12 | 270/281 | 52:48 | 27:73 | ||||||
| YC16 | 278/283 | 69:31 | 56:44 | ||||||
| YC28 | 272/289 | 48:52 | 37:63 | ||||||
| YC6 | 61/39 | 50/50 | 270/270¶ | ||||||
| YC23 | 44/56 | 38/62 | 40/60 | 30/70 | 278/278¶ | ||||
| YC17# | 84/16 | 81/19 | 80/20 | 82/18 | 270/283 | 85:15 | 26:74 | ||
| YC8# | 43/57 | 38/62 | 32/68 | 47/53 | 272/275 | 77:23 | 74:26 | ||
| YC19# | 72/28 | 73/27 | 30/70 | 22/78 | 267/281 | 78:22 | 58:42 | ||
| YC3# | 69/31 | 71/29 | 278/283 | 19:81 | 91:9 | ||||
| YC5# | 42/58 | 54/46 | 51/49 | 56/44 | 275/292 | 10:90 | 36:64 | ||
| YC18# | 68/32 | 63/37 | 267/283 | 16:84 | 0:100 | ||||
| YC2** | 275/278 | 9:91 | 8:92 | ||||||
| YC21** | 272/289 | 21:79 | 0:100 | ||||||
| YC29** | 269/275 | 0:100 | 61:39 | ||||||
| Sample . | Allelic frequencies (%) of expressed exonic polymorphisms in granulocyte RNA . | HUMARA assay* . | |||||||
|---|---|---|---|---|---|---|---|---|---|
| MPP1 G/T (qTCA)† . | MPP1 G/T (P)‡ . | FHL1 C/T (qTCA)† . | FHL1 C/T (P)‡ . | IDS C/T (qTCA)† . | IDS C/T (P)‡ . | Genotype§ . | Allele ratios DNA . | Allele ratios RNA . | |
| YC1 | 46/54 | 44/56 | 50/50 | 48/52 | 275/283 | 64:36‖ | 55:45 | ||
| YC4 | 30/70 | 37/62 | 70/30 | 62/38 | 275/292 | 33:67 | 67:33 | ||
| YC7 | 37/64 | 21/79 | 275/281 | 45:55 | 64:36 | ||||
| YC9 | 66/34 | 57/43 | 34/66 | 38/62 | 44/56 | 41/56 | 260/270 | 60:40 | 53:47 |
| YC10 | 43/57 | 38/61 | 47/53 | 45/55 | 45/55 | 43/57 | 258/278 | 40:60 | 49:51 |
| YC11 | 42/58 | 49/51 | 55/45 | 43/57 | 267/272 | 47:53 | 58:42 | ||
| YC13 | 41/59 | 31/69 | 267/287 | 27:73 | 47:53 | ||||
| YC14 | 30/70 | 31/69 | 86/14 | 62/38 | 272/278 | 48:52 | 38:62 | ||
| YC15 | 45/65 | 41/58 | 264/275 | 48:52 | 56:44 | ||||
| YC20 | 65/35 | 65/35 | 40/60 | 57/43 | 60/40 | 68/32 | 281/287 | 39:61 | 52:48 |
| YC22 | 27/73 | 23/77 | 43/57 | 39/61 | 266/269 | 33:67 | 39:61 | ||
| YC24 | 45/55 | 44/56 | 258/281 | 46:54 | 79:21 | ||||
| YC25 | 51/49 | 51/49 | 269/289 | 48:52 | 84:16 | ||||
| YC26 | 38/62 | 33/67 | 263/283 | 51:49 | 54:46 | ||||
| YC27 | 77/23 | 76/24 | 78/22 | 75/25 | 272/275 | 68:32 | 56:44 | ||
| YC30 | 48/52 | 49/51 | 266/269 | 49:51 | 50:50 | ||||
| YC31 | 55/45 | 51/49 | 58/42 | 50/50 | 263/272 | 40:60 | 48:52 | ||
| YC12 | 270/281 | 52:48 | 27:73 | ||||||
| YC16 | 278/283 | 69:31 | 56:44 | ||||||
| YC28 | 272/289 | 48:52 | 37:63 | ||||||
| YC6 | 61/39 | 50/50 | 270/270¶ | ||||||
| YC23 | 44/56 | 38/62 | 40/60 | 30/70 | 278/278¶ | ||||
| YC17# | 84/16 | 81/19 | 80/20 | 82/18 | 270/283 | 85:15 | 26:74 | ||
| YC8# | 43/57 | 38/62 | 32/68 | 47/53 | 272/275 | 77:23 | 74:26 | ||
| YC19# | 72/28 | 73/27 | 30/70 | 22/78 | 267/281 | 78:22 | 58:42 | ||
| YC3# | 69/31 | 71/29 | 278/283 | 19:81 | 91:9 | ||||
| YC5# | 42/58 | 54/46 | 51/49 | 56/44 | 275/292 | 10:90 | 36:64 | ||
| YC18# | 68/32 | 63/37 | 267/283 | 16:84 | 0:100 | ||||
| YC2** | 275/278 | 9:91 | 8:92 | ||||||
| YC21** | 272/289 | 21:79 | 0:100 | ||||||
| YC29** | 269/275 | 0:100 | 61:39 | ||||||
P indicates pyrosequencing; and YC, young control.
DNA HUMARA is the clonality assay that uses a methylation-sensitive nuclease to digest the unmethylated (active) allele. For DNA- and RNA-HUMARAs and principle, see “Methods.” The values shown are the mean of duplicate determinations.
Results are based on quantitative transcription-based assay. Values shown are the mean of duplicate determinations.
Results are based on pyrosequencing. Values shown are the mean of duplicate determinations.
Genotype is based on the length of the PCR product that in turn is determined by the length of the exon 1 microsatellite.
The highest value shown is always the putative active (unmethylated) allele.
Shown are the 2 non-polymorphic HUMARA samples.
Results of samples that are considered clonal by DNA-HUMARA with ≥ 1 polymorphic genes included in the qTCA/pyrosequencing analysis.
Results of samples that are considered clonal by DNA-HUMARA without a polymorphic gene for analysis by qTCA/pyrosequencing.