Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat

Table 1 Summary of XDP CCCTCT repeat sizing and instability analyses

Sample	Repeat length (standard genotyping)	Expansion index	Small pool-PCR Southern blot Highest/lowest repeat lengths	Single molecule input small pool-PCR
Sample	Repeat length (standard genotyping)	Expansion index	Small pool-PCR Southern blot Highest/lowest repeat lengths	Number of alleles sampled	Mean repeat length	Modal repeat length	Highest/lowest repeat lengths
17–17 Cerebellum	55	1.205	82/31	121	60	56	101/25
17–17 Occipital Cortex	54	2.383	129/36	211	55	54	100/24
17–17 Putamen	54	1.247	128/30	147	55	54	71/50
17–17 Caudate	54	1.1809	97/42	243	54	54	84/19
18–006 Occipital Cortex	35	0.9524	149/22	182	37	35	60/26
19–008 Occipital Cortex	41	1.305	77/31	168	42	41	53/21
19–008 Cerebellum	41	1.111		141	42	41	50/26
19–008 Caudate	41	1.124		142	42	41	49/37
19–008 Putamen	41	1.061		164	42	41	47/35

ISSN: 2051-5960