Table 1.

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

The controls included 1036 from the HGDP, 102 from the SNP500 Cancer set, and 18 anonymous healthy persons.