Novel and de novo PKD1 mutations identified by multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP)

Table 2 MRF-SSCP for mutation analysis of the full-length PKD1 cDNA

PCR Fragment from PKD1-cDNA	Size (bp) before endonuclease digestion	Restriction endonuclease used	Restriction fragment length (bp) in MRF-SSCP (5' > 3')
SI 1	1,554	Pvu II+Xcm I+Ava II	209, 318, 99, 249, 294, 385
		Afl III+Sac I+Ava II	209, 282, 384, 238, 312, 129
SI 2	1,678	Pvu II+Hinf I	429, 93, 366, 277, 295, 218
		Sma I+Bgl I	108, 245, 292, 605, 123, 306
SI 3	1,575	Bgl I+Hinf I	233, 81, 424, 198, 325, 202, 112
		Taq I	429, 215, 187, 243, 501
SI 4	1,473	Bgl I+Hha I	131, 159, 96, 380, 108, 476, 123
		Ava II	178, 252, 475, 204, 253, 111
SI 5	1,663	Sau3A I+Bgl I	127, 387, 377, 188, 226, 169, 189
		Ava II+Bgl I	116, 324, 423, 216, 141, 85, 358
SI 6	1,506	Ava II+Bgl I	173, 307, 294, 402, 187, 143
		BstU I+BstE II	313, 344, 265, 190, 70, 239, 85
SI 7	1,518	BstU I+Hinf I	112, 287, 424, 389, 201, 105
		Ava II+Hinf I	197, 202, 398, 315, 192, 109, 105
SI 8	1,539	Pvu II+Pst I+BstE II	337, 199, 233, 505, 218, 185
		Taq I+Bgl I	190, 141, 222, 344, 474, 98, 208
SI 9	1,650	Pvu II	190, 351, 81, 180, 453, 135, 12, 248
		Taq I+Bgl I	288, 318, 197, 529, 84, 234

ISSN: 1471-2350