Results of clonality assays for 7 patients with myeloproliferative disorders
| Sample . | Diagnosis . | JAK2V617F allele burden (%) . | 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 . | |||
| P1 | PV | 97 | 95/5 | 91/9 | 1/99 | 3/97 | 270/281 | 91:9‖ | 100:0 | ||
| P2 | PV | 76 | 100/0 | 97/3 | 4/96 | 11/88 | 270/278 | 10:90 | 0:100 | ||
| P3 | PV | 94 | 92/8 | 97/3 | 270/275 | 0:100 | 3:97 | ||||
| P4 | PV | 14 | 88/12 | 80/20 | 20/80 | ND | 270/272 | 0:100 | 37:63 | ||
| P5 | PV | 72 | 6/94 | 3/97 | 272/285 | 0:100 | 0:100 | ||||
| P6 | ET | 91 | 93/7 | 80/20 | 264/267 | 100:0 | 98:2 | ||||
| P7 | PV | 33 | 2/98 | 4/96 | 10/90 | 4/96 | 264/281 | 0:100 | 0:100 | ||
| Sample . | Diagnosis . | JAK2V617F allele burden (%) . | 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 . | |||
| P1 | PV | 97 | 95/5 | 91/9 | 1/99 | 3/97 | 270/281 | 91:9‖ | 100:0 | ||
| P2 | PV | 76 | 100/0 | 97/3 | 4/96 | 11/88 | 270/278 | 10:90 | 0:100 | ||
| P3 | PV | 94 | 92/8 | 97/3 | 270/275 | 0:100 | 3:97 | ||||
| P4 | PV | 14 | 88/12 | 80/20 | 20/80 | ND | 270/272 | 0:100 | 37:63 | ||
| P5 | PV | 72 | 6/94 | 3/97 | 272/285 | 0:100 | 0:100 | ||||
| P6 | ET | 91 | 93/7 | 80/20 | 264/267 | 100:0 | 98:2 | ||||
| P7 | PV | 33 | 2/98 | 4/96 | 10/90 | 4/96 | 264/281 | 0:100 | 0:100 | ||
ET indicates essential thrombocytosis; P, pyrosequencing; and PV, polycythemia vera.
DNA HUMARA is the clonality assay that uses a methylation sensitive nuclease to digest the unmethylated (active) allele. For DNA and RNA HUMARA assay and principle see “Methods.” The values shown are the mean of duplicate determinations.
Results were based on quantitative transcription-based assay. Values shown are the mean of duplicate determinations.
Results were 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.