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Polymerase chain reaction and Southern blot-based analysis of the C9orf72 hexanucleotide repeat in different motor neuron diseases

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Polymerase chain reaction and Southern blot-based analysis of the C9orf72 hexanucleotide repeat in different motor neuron diseases. / Hübers, Annemarie; Marroquin, Nicolai; Schmoll, Birgit; Vielhaber, Stefan; Just, Marlies; Mayer, Benjamin; Högel, Josef; Dorst, Johannes; Mertens, Thomas; Just, Walter; Aulitzky, Anna; Wais, Verena; Ludolph, Albert C; Kubisch, Christian; Weishaupt, Jochen H; Volk, Alexander.

In: NEUROBIOL AGING, Vol. 35, No. 5, 01.05.2014, p. 1214.e1-6.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Hübers, A, Marroquin, N, Schmoll, B, Vielhaber, S, Just, M, Mayer, B, Högel, J, Dorst, J, Mertens, T, Just, W, Aulitzky, A, Wais, V, Ludolph, AC, Kubisch, C, Weishaupt, JH & Volk, A 2014, 'Polymerase chain reaction and Southern blot-based analysis of the C9orf72 hexanucleotide repeat in different motor neuron diseases', NEUROBIOL AGING, vol. 35, no. 5, pp. 1214.e1-6. https://doi.org/10.1016/j.neurobiolaging.2013.11.034

APA

Hübers, A., Marroquin, N., Schmoll, B., Vielhaber, S., Just, M., Mayer, B., Högel, J., Dorst, J., Mertens, T., Just, W., Aulitzky, A., Wais, V., Ludolph, A. C., Kubisch, C., Weishaupt, J. H., & Volk, A. (2014). Polymerase chain reaction and Southern blot-based analysis of the C9orf72 hexanucleotide repeat in different motor neuron diseases. NEUROBIOL AGING, 35(5), 1214.e1-6. https://doi.org/10.1016/j.neurobiolaging.2013.11.034

Vancouver

Hübers A, Marroquin N, Schmoll B, Vielhaber S, Just M, Mayer B et al. Polymerase chain reaction and Southern blot-based analysis of the C9orf72 hexanucleotide repeat in different motor neuron diseases. NEUROBIOL AGING. 2014 May 1;35(5):1214.e1-6. https://doi.org/10.1016/j.neurobiolaging.2013.11.034

Bibtex

@article{6db148b58ce845238439e9542330fe0e,
title = "Polymerase chain reaction and Southern blot-based analysis of the C9orf72 hexanucleotide repeat in different motor neuron diseases",
abstract = "The GGGGCC-hexanucleotide repeat expansion in C9orf72 is the most common genetic cause of familial amyotrophic lateral sclerosis and frontotemporal dementia. This study determined the frequency of C9orf72 repeat expansions in different motor neuron diseases (amyotrophic lateral sclerosis (ALS), motor neuron diseases affecting primarily the first or the second motor neuron and hereditary spastic paraplegia). Whereas most studies on C9orf72 repeat expansions published so far rely on a polymerase chain reaction-based screening, we applied both polymerase chain reaction-based techniques and Southern blotting. Furthermore, we determined the sensitivity and specificity of Southern blotting of the C9orf72 hexanucleotide repeat in DNA derived from lymphoblastoid cell lines. C9orf72 repeat expansions were found in 27.1% out of 166 familial ALS patients, only once in 68 sporadic ALS patients, and not in 61 hereditary spastic paraplegia patients or 52 patients with motor neuron diseases affecting clinically primarily either the first or the second motor neuron. We found hints for a correlation between C9orf72 repeat length and the age of onset. Somatic instability of the C9orf72 repeat was observed in lymphoblastoid cell lines compared with DNA derived from whole blood from the same patient and therefore caution is warranted for repeat length determination in immortalized cell lines.",
author = "Annemarie H{\"u}bers and Nicolai Marroquin and Birgit Schmoll and Stefan Vielhaber and Marlies Just and Benjamin Mayer and Josef H{\"o}gel and Johannes Dorst and Thomas Mertens and Walter Just and Anna Aulitzky and Verena Wais and Ludolph, {Albert C} and Christian Kubisch and Weishaupt, {Jochen H} and Alexander Volk",
note = "Copyright {\textcopyright} 2014 Elsevier Inc. All rights reserved.",
year = "2014",
month = may,
day = "1",
doi = "10.1016/j.neurobiolaging.2013.11.034",
language = "English",
volume = "35",
pages = "1214.e1--6",
journal = "NEUROBIOL AGING",
issn = "0197-4580",
publisher = "Elsevier Inc.",
number = "5",

}

RIS

TY - JOUR

T1 - Polymerase chain reaction and Southern blot-based analysis of the C9orf72 hexanucleotide repeat in different motor neuron diseases

AU - Hübers, Annemarie

AU - Marroquin, Nicolai

AU - Schmoll, Birgit

AU - Vielhaber, Stefan

AU - Just, Marlies

AU - Mayer, Benjamin

AU - Högel, Josef

AU - Dorst, Johannes

AU - Mertens, Thomas

AU - Just, Walter

AU - Aulitzky, Anna

AU - Wais, Verena

AU - Ludolph, Albert C

AU - Kubisch, Christian

AU - Weishaupt, Jochen H

AU - Volk, Alexander

N1 - Copyright © 2014 Elsevier Inc. All rights reserved.

PY - 2014/5/1

Y1 - 2014/5/1

N2 - The GGGGCC-hexanucleotide repeat expansion in C9orf72 is the most common genetic cause of familial amyotrophic lateral sclerosis and frontotemporal dementia. This study determined the frequency of C9orf72 repeat expansions in different motor neuron diseases (amyotrophic lateral sclerosis (ALS), motor neuron diseases affecting primarily the first or the second motor neuron and hereditary spastic paraplegia). Whereas most studies on C9orf72 repeat expansions published so far rely on a polymerase chain reaction-based screening, we applied both polymerase chain reaction-based techniques and Southern blotting. Furthermore, we determined the sensitivity and specificity of Southern blotting of the C9orf72 hexanucleotide repeat in DNA derived from lymphoblastoid cell lines. C9orf72 repeat expansions were found in 27.1% out of 166 familial ALS patients, only once in 68 sporadic ALS patients, and not in 61 hereditary spastic paraplegia patients or 52 patients with motor neuron diseases affecting clinically primarily either the first or the second motor neuron. We found hints for a correlation between C9orf72 repeat length and the age of onset. Somatic instability of the C9orf72 repeat was observed in lymphoblastoid cell lines compared with DNA derived from whole blood from the same patient and therefore caution is warranted for repeat length determination in immortalized cell lines.

AB - The GGGGCC-hexanucleotide repeat expansion in C9orf72 is the most common genetic cause of familial amyotrophic lateral sclerosis and frontotemporal dementia. This study determined the frequency of C9orf72 repeat expansions in different motor neuron diseases (amyotrophic lateral sclerosis (ALS), motor neuron diseases affecting primarily the first or the second motor neuron and hereditary spastic paraplegia). Whereas most studies on C9orf72 repeat expansions published so far rely on a polymerase chain reaction-based screening, we applied both polymerase chain reaction-based techniques and Southern blotting. Furthermore, we determined the sensitivity and specificity of Southern blotting of the C9orf72 hexanucleotide repeat in DNA derived from lymphoblastoid cell lines. C9orf72 repeat expansions were found in 27.1% out of 166 familial ALS patients, only once in 68 sporadic ALS patients, and not in 61 hereditary spastic paraplegia patients or 52 patients with motor neuron diseases affecting clinically primarily either the first or the second motor neuron. We found hints for a correlation between C9orf72 repeat length and the age of onset. Somatic instability of the C9orf72 repeat was observed in lymphoblastoid cell lines compared with DNA derived from whole blood from the same patient and therefore caution is warranted for repeat length determination in immortalized cell lines.

U2 - 10.1016/j.neurobiolaging.2013.11.034

DO - 10.1016/j.neurobiolaging.2013.11.034

M3 - SCORING: Journal article

C2 - 24378086

VL - 35

SP - 1214.e1-6

JO - NEUROBIOL AGING

JF - NEUROBIOL AGING

SN - 0197-4580

IS - 5

ER -