Simple Repeat-Primed PCR Analysis of the Myotonic Dystrophy Type 1 Gene in a Clinical Diagnostics Environment

Table 2

Characterisation of samples, including age, sex, repeat length, analysis methods used, and disease classification.

Sample	Age	Sex	Repeat length	Analysis methods used			Disease classification
				PCR	SB	TP-PCR
1	1 y 7 m	F	7, 11	√	√	√	Unaffected
2	2 y	F	11, 13	√	√	√	Unaffected
3	3 y	M	12, 13	√	√	√	Unaffected
4	5 y	F	5, 14	√	√	√	Unaffected
5	48 y	F	11, 15	√	√	√	Unaffected
6	85 y	M	11, 26	√	√	√	Unaffected
7	11 m	M	5, 27	√	√	√	Unaffected
8	72 y	M	13, 57	√	√	√	Mild
9	68 y	F	5, 74	√	√	√	Mild
10	34 y	F	4, 77	√	√	√	Mild
11	57 y	M	11, 84	√	√	√	Mild
12	47 y	F	5, 120	√	√	√	Mild-classical
13	45 y	M	5, EXP (250)	√	√	√	Classical
14	57 y	F	5, EXP (380) (I)	√	√	√	Classical
15	10 y	M	12, EXP (500)	√	√	√	Classical
16	24 y	M	14, EXP (550)	√	√	√	Classical
17	21 y	F	12, EXP (800)	√	√	√	Classical
18	38 y	F	22, EXP (1000–1500)	√	√	√	Classical
19	36 y	M	5, EXP (1067–1600)	√	√	√	Classical
20	11 y	F	5, EXP (400)	√	√	√	Classical
21	54 y	F	24, EXP (260–490) (I)	√	√	√	Classical
22	2 M	M	13, 13	√		√	Unaffected
23	1 d	M	5, 13	√		√	Unaffected
24	24 y	M	5, 11	√		√	Unaffected
25	27 y	M	5, 10	√		√	Unaffected
26	6 M	F	5, 5	√		√	Unaffected
27	54 y	F	14, 15	√		√	Unaffected
28	52 y	F	23, 27	√		√	Unaffected
29	25 y	F	5, 12	√		√	Unaffected
30	23 y	F	11, 13	√		√	Unaffected
31	32 y	M	5, 5	√		√	Unaffected
32	23 y	M	12, 14	√		√	Unaffected
33	56 y	M	8, 12	√		√	Unaffected
34	16 y	F	12, 20	√		√	Unaffected
35	21 y	F	11, 13	√		√	Unaffected
36	32 y	M	13, 14	√		√	Unaffected
37	3 y	F	5, 5	√		√	Unaffected
38	1 y 8 m	F	5, 13	√		√	Unaffected
39	33 y	F	5, 5	√	√	√	Unaffected
40	16 y	F	5, 13	√		√	Unaffected
41	70 y	F	5, 5	√		√	Unaffected
42	23 y	F	5, 13	√		√	Unaffected
43	37 y	M	5, 14	√		√	Unaffected
44	57 y	M	5, 13	√		√	Unaffected
45	65 y	F	5, 12	√		√	Unaffected
46	30 y	F	5, 14	√		√	Unaffected
47	55 y	M	15, 62	√		√	Mild
48	61 y	M	14, 89	√		√	Mild
49	32 y	M	26, 84	√		√	Mild
50	53 y	F	5, 81	√		√	Mild
51	63 y	F	15, 50	√		√	Mild
52	54 y	M	5, 97	√		√	Mild
53	39 y	F	13, 51	√		√	Mild
54	73 y	M	13, 56	√		√	Mild
55	37 y	F	5, 101	√		√	Mild-classical
56	47 y	M	5, 141	√	√	√	Mild-classical
57	60 y	F	13, 92–145	√	√	√	Mild-classical
58	30 y	M	5, 140	√	√	√	Mild-classical
59	43 y	M	5, EXP	√		√	Classical
60	6 y	F	5, EXP	√		√	Classical
61	22 y	M	5, EXP	√		√	Classical
62	27 y	F	11, EXP	√		√	Classical
63	30 y	M	5, EXP	√		√	Classical
64	55 y	M	13, EXP (I)	√		√	Classical
65	3 y	M	12, EXP	√		√	Classical
66	80 y	F	10, EXP (I)	√	√	√	Classical
67	42 y	F	5, EXP	√		√	Classical
68	50 y	M	13, EXP	√		√	Classical
69	24 y	F	21, EXP	√		√	Classical
70	42 y	M	5, EXP	√		√	Classical
71	52 y	F	12, EXP	√		√	Classical
72	72 y	M	19, EXP (I)	√		√	Classical
73	29 y	F	5, EXP	√		√	Classical
74	45 y	F	5, EXP (I)	√		√	Classical

Repeat lengths up to 150 repeats are shown, and expansions (EXP) are indicated where the specific size of the allele is no longer able to be sized accurately (in excess of 150 repeats). I indicates samples that have a 3′ interruption using the TP-PCR forward primer combination. Ticks indicate which methods were used to analyse each sample. PCR: standard polymerase chain reaction; SB: Southern blot; TP-PCR: triplet repeat primed PCR.