Screening for PRF1 gene mutations in patients with aplastic anemia and healthy controls
| Location of variation . | Patients with aplastic anemia n = 75 . | Healthy controls n = 1156 . | P . |
|---|---|---|---|
| Exon 2, codon 4 CGT/CAT (Arg/His), | |||
| No. of patients (% of allele frequency) | 1 (0.66) | 21 (0.96) | .7 |
| Exon 2, codon 91 GCG/GTG (Ala/Val) | |||
| No. of patients (% of allele frequency) | 3 (2) | 24 (1.1) | .27 |
| Exon 3, codon 388 AGC/ATC (Ser/Ile) | |||
| No. of patients (% of allele frequency) | 1 (0.66) | 0 (0) | .001 |
| Location of variation . | Patients with aplastic anemia n = 75 . | Healthy controls n = 1156 . | P . |
|---|---|---|---|
| Exon 2, codon 4 CGT/CAT (Arg/His), | |||
| No. of patients (% of allele frequency) | 1 (0.66) | 21 (0.96) | .7 |
| Exon 2, codon 91 GCG/GTG (Ala/Val) | |||
| No. of patients (% of allele frequency) | 3 (2) | 24 (1.1) | .27 |
| Exon 3, codon 388 AGC/ATC (Ser/Ile) | |||
| No. of patients (% of allele frequency) | 1 (0.66) | 0 (0) | .001 |
The controls included 1036 from the HGDP, 102 from the SNP500 Cancer set, and 18 anonymous healthy persons.