Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes

Table 7 Patient samples tested to date and variations found

Plate #	Patient #	Gene	Variation: DNA experimentally determined(protein: theoretically deduced)	Exon/Intron	CK value	Age of Onset	DYS -IHC
1	B1101.1	DMD	c [2521C>T] (p.Gln841X)	20	2601	Female->10 y/o	N/A
1	9	DMD	c.8038C>T(p.Arg2680X)	55	11,010	8	N/A
1	174	DMD	c.2614_2615insA (p.?)	20	N/A	6	N/A
1	343	DMD	c.829C>T(p.Gln277X)	8	32,000	5	N/A
1	383 (BMD)	DMD	c.13208_13209ins ACCTTATGTGACGCTGG	3'UTR	3,935	11	N/A
1	B1105.1	DMD	no causative variation found		1500	18
1	B1028.1	DMD	no causative variation found		10,000	5	absent
1	1	DMD	no causative variation found		N/A	N/A	N/A
1	B646.1	DMD	no causative variation found		450	20's
2	B646.1	FKRP	c [826C>A]+ [826C>A](p.Leu276>Ile)	4	450	20's
2	B1141.1	CAV3	c [84C>A]+ [=](p.Asp28Glu)	1	2400	37	Normal
2	B1092.1	CAPN3	c [551C>T(+)706G>A] (p.Thr184Met +Ala236Thr)	4,5	289	6	Normal
2	B1102.1	CAPN3	c [550delA(+)1967dupACATTTTCAAGCAG]	4,17	2000	34	faint
2	B1103.1		no causative variation found		9505	1	Normal
2	B112.1		no causative variation found		156	1	Normal
2	B1149.1		no causative variation found		1074	10
2	B122.1		no causative variation found		593	2	Normal
2	B695.1		no causative variation found		321	2-3	Normal
2	B848.1		no causative variation found				Normal

Far left column lists the plate number used to test the sample, the next column lists patient sample number, the next column lists the gene in which a causative or possibly causative variation was found and the next column lists variations. N/A means data not available. Note that patient samples with no causative variation found on one plate may be repeated on another plate, and that patients have not yet been tested against all three plates.

ISSN: 2730-6844