A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome

Table 1

Primers used in this study.

Primer	Target		F/R	Application	Sequence (5′-3′)	PCR product
516	FBN1	e22	F	PCR cloning (Not I)	GTC TGC GGC CGC GAC CAT CAA GGG CAC TTG CTG GC	516-519: 2798 bp
519	FBN1	e24	R	PCR cloning (EcoRV)	CAG CGA TAT CAC AAG ACA GAT CCT TCC TGT GGC ATC
523	FBN1	i22	F	Sequencing	GTG AAT GCT GGA GGC CAT GAG AT
524	FBN1	i23	F	Sequencing	CTT CAC AGG GAG AAA TAT GCA GCA GA
525	FBN1	i23	F	Sequencing	CTC CAT TAG GCA AAC TGG GAA GGA
480	Vector	5′UTR	F	Sequencing	GCA GAG CTC GTT TAG TGA ACC GTC
481	Vector	3′UTR	R	Sequencing	GCA ACT TCC AGG GCC AGG AG
521	FBN1	e22	F	RT-PCR	ACC ATC AAG GGC ACT TGC TGG C
530	Vector	c-Myc	R	RT-PCR	CCT CAC AGA TCC TCT TCT GAG ATG AGT	521-530: 374 bp
36	RPL19	e2-3	F	RT-PCR	AAC TCC CGT CAG CAG ATC CG
65	RPL19	e6	R	RT-PCR	CTT GGT CTC TTC CTC CTT GGA	36-65: 480 bp
528	Vector	FLAG	F	RT-PCR	ATG GAC TAC AAA GAC CAT GAC GGT GA
533	FBN1	e23-22	R	RT-PCR	CCA CAT ATG GGA TCA ACT TGG CAT AG	528-533: 230 bp
535	FBN1	e23-i22	R	RT-PCR	CCT TTA CCA CAT ATG GGA TCT GTA ATA AAA AG	528-535: 250 bp