Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome

Table 2 SNRPN and snoRNA expression analysis with quantitative RT-PCR

Amplification product	PWS	Normal control	t-PWS (4;15)	PWS triplication	t-PWS intron 2	t-PWS (4;15)
	LCL	LCL	LCL	LCL	FB	FB
SNURF Ex 2	0.0001	0.53	0.54	2	0.002	0.56
SNURF Ex 3	0.0002	1.1	1.43	6.4	0.0004	0.56
HBII-437	0.00003	0.86	1.13	4.9	0.00008	0.1
SNRPN 14/15	0.0013	4.7	4.91	17.23	-	-
SNRPN 19/20a	0.005	1.34	0.003	4.7	0.007	0.007
HBII-438	0.03	1.5	0.02	6.2	0.07	0.07
PWCR1/HBII-85	0.03	3.7	0.02	16.8	0.04	0.06

Sample identification: PWS: PWS with an IC microdeletion (patient E in [5]); t(4;15) PWS: the PWS case reported here; PWS-triplication: intrachromosomal triplication of the PWS region [33]; t-PWS intron 2: previously reported PWS case with t(4;15)(q27;q11.2) and breakpoint in SNRPN intron 2 [26, 27]; LCL, lymphoblastoid cell line, FB, fibroblast strain. The numbers represent the ratio of target product to GAPDH control product.

ISSN: 1471-2350