Journal of Neurodegenerative Diseases / 2013 / Article / Tab 2

Research Article

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.

SampleAgeSexRepeat lengthAnalysis methods usedDisease classification
PCRSBTP-PCR

11 y 7 mF7, 11Unaffected
22 yF11, 13Unaffected
33 yM12, 13Unaffected
45 yF5, 14Unaffected
548 yF11, 15Unaffected
685 yM11, 26Unaffected
711 mM5, 27Unaffected
872 yM13, 57Mild
968 yF5, 74Mild
1034 yF4, 77Mild
1157 yM11, 84Mild
1247 yF5, 120Mild-classical
1345 yM5, EXP (250)Classical
1457 yF5, EXP (380) (I)Classical
1510 yM12, EXP (500)Classical
1624 yM14, EXP (550)Classical
1721 yF12, EXP (800)Classical
1838 yF22, EXP (1000–1500)Classical
1936 yM5, EXP (1067–1600)Classical
2011 yF5, EXP (400)Classical
2154 yF24, EXP (260–490) (I)Classical
222 MM13, 13Unaffected
231 dM5, 13Unaffected
2424 yM5, 11Unaffected
2527 yM5, 10Unaffected
266 MF5, 5Unaffected
2754 yF14, 15Unaffected
2852 yF23, 27Unaffected
2925 yF5, 12Unaffected
3023 yF11, 13Unaffected
3132 yM5, 5Unaffected
3223 yM12, 14Unaffected
3356 yM8, 12Unaffected
3416 yF12, 20Unaffected
3521 yF11, 13Unaffected
3632 yM13, 14Unaffected
373 yF5, 5Unaffected
381 y 8 mF5, 13Unaffected
3933 yF5, 5Unaffected
4016 yF5, 13Unaffected
4170 yF5, 5Unaffected
4223 yF5, 13Unaffected
4337 yM5, 14Unaffected
4457 yM5, 13Unaffected
4565 yF5, 12Unaffected
4630 yF5, 14Unaffected
4755 yM15, 62Mild
4861 yM14, 89Mild
4932 yM26, 84Mild
5053 yF5, 81Mild
5163 yF15, 50Mild
5254 yM5, 97Mild
5339 yF13, 51Mild
5473 yM13, 56Mild
5537 yF5, 101Mild-classical
5647 yM5, 141Mild-classical
5760 yF13, 92–145Mild-classical
5830 yM5, 140Mild-classical
5943 yM5, EXPClassical
606 yF5, EXPClassical
6122 yM5, EXPClassical
6227 yF11, EXPClassical
6330 yM5, EXPClassical
6455 yM13, EXP (I)Classical
653 yM12, EXPClassical
6680 yF10, EXP (I)Classical
6742 yF5, EXPClassical
6850 yM13, EXPClassical
6924 yF21, EXPClassical
7042 yM5, EXPClassical
7152 yF12, EXPClassical
7272 yM19, EXP (I)Classical
7329 yF5, EXPClassical
7445 yF5, 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.

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