Table 3.

Comparison between Direct Sequencing and Multiplex-PCR Fragment Analysis in Patients with CEBPA Mutations and Polymorphisms

Sample ID	Age	Sex	WHO (FAB) classification	Cytogenetic results	Direct sequencing of PCR product*	Multiplex PCR Fragment analysis
					nt 733-734 ins GGGG,	TAD1:+4 bp,
D25	24	M	AML, NOC (M5)	46,XY [20]	nt 1516-1517 ins	bZIP:+18 bp
					CCAAGCAGCGCAACGTGG
D31	50	F	AML, NOC (M1)	46,XX [20]	nt 1159 ins T	TAD2:+1 bp
E5	67	M	AML, NOC (M2)	46,XY [20]	nt1440 sub CG>GT	Wild type
G6	69	F	AML, NOC (M2)	46,XX [20]	nt 1490 sub G<T
G9	58	F	AML, NOC (M2)	46,XX [20]	nt 708 del C and nt 1528-1529 ins AGA	bZIP:+3 bp
						TAD1:−1 bp,
A026	47	F	AML, NOC (M5)	46,XX,t (4;13;15) (q21;q14;q26) [cp17]/46,XX [3]	nt 939 sub C>T	Wild type
A027	43	M	AML, NOC (M1)	46,XY,del(920) 9 9q11.20) [2] /46,XY [18]	nt 787 sub GCCT>CTAC	Wild type
C005	46	M	AML, NOC (M5)	46,XY [20]	nt 1505 ins AGG	bZIP:+3 bp
A010	49	F	APL† (M3)	46,XX,t (15;17) (q22;q210) [20]	nt 1175-1180 dup‡	TAD2:+6 bp
G2	70	M	AML with multilineage dysplasia	Complex including abnormalities chromosome 5 and 7	nt 1175-1180 dup‡	TAD2:+6 bp

^*Sequencing numbering according to GenBank accession U34070.

^†APL, acute promyelocytic leukemia.

^‡Polymorphism.