Table 1.

Genomic abnormalities detected by SNP-Chip in MPDs

Disease	case #	JAK2	UPD	UPD*	Recurrent	Other abnormalities	MPL**
PV	78	1		9p		dup 9p, dup 3q, Trisomy 4, del 11q
	172	1				Trisomy 9
	175	1
	298	1		1p/9p			Y591D
	375	1		9p
	86	2	9p
	249	2	9p
	307	2	9p
	327	2	9p
	354	2	9p			Del 20q
ET	114	0
	115	0
	146	0
	201	0
	240	0
	281	0
	285	0
	314	0
	446	0
	461	0
	5	1				Del 5q23.1(LOC51334)
	186	1
	271	1
	272	1
	313	1				Trisomy 9
	330	1		9p
	374	1
MMM	29	0	1p		RB del		S204F
	56	0
	84	0	1p		RB del	Dup 8q21.3	W515L
	138	0
	183	0				Dup 9q21.11-qter, Dup 4q28.1-qter
	196	0
	325	0		1p			W515L
	459	0
	485	0			NF1 del	Del 12p13
	109	1		9p		Del 4q24
	120	1		9p
	122	1		9p
	191	1		9p
	287	1		9p	RB del
	442	1		9p
	457	1		9p

UPD: uniparental disomy, Del: deletion, Dup: duplication.

JAK2: Mutational status of JAK2 gene; 0, only wild-type JAK2 allele was detected;

1. both wild-type and mutated alleles of JAK2 were detected;
2. only mutated allele of JAK2 was detected.

^*Subpopulation had UPD which was detected by allele-specific gene dosage analysis.

^**Mutational status of MPL gene (see Result Section)