CAG repeat analyses in frozen and formalin-fixed tissues following primer extension preamplification for evaluation of mitotic instability of expanded SCA1 alleles

Christine Zühlke; Yorck Hellenbroich; Franziska Schaaff; Ulrike Gehlken; Karl Wessel; Thomas Schubert; Jorge Cervos-Navarro; H. Pickartz; Eberhard Schwinger

doi:10.1007/s004390050513

CAG repeat analyses in frozen and formalin-fixed tissues following primer extension preamplification for evaluation of mitotic instability of expanded SCA1 alleles

Christine Zühlke^*, Yorck Hellenbroich, Franziska Schaaff, Ulrike Gehlken, Karl Wessel, Thomas Schubert, Jorge Cervos-Navarro, H. Pickartz, Eberhard Schwinger

^*Corresponding author for this work

Institute of Human Genetics

Charite - Universitatsmedizin Berlin

14 Citations (Scopus)

Abstract

Neurodegenerative disorders, including spinocerebellar ataxias (SCA), Huntington disease (HD) and dentatorubral-pallidoluysian atrophy (DRPLA), are associated with unstable CAG repeats. To investigate the mitotic stability of the repetitive element in the genes for SCA1, SCA3, HD, and DRPLA we extracted DNA from up to 13 tissue samples from four deceased individuals with progressive neurological disorders and neuropathological signs. Due to the formalin fixation of some tissues the genomic DNA was highly degraded and unsuitable for amplification of fragments longer than 150 bp. After size selection and primer extension preamplification, specific analyses could be performed even for expanded alleles. In all four patients the SCA1 mutation could be demonstrated, in one case with remarkable somatic heterogeneity of the elongated allele, whereas alleles of the normal range were stable in all tissues examined.

Original language	English
Journal	Human Genetics
Volume	100
Issue number	3-4
Pages (from-to)	339-344
Number of pages	6
ISSN	0340-6717
DOIs	https://doi.org/10.1007/s004390050513
Publication status	Published - 1997

Funding

Acknowledgements This work was supported by the Forschungs-förderungs-Programm der Medizinischen Universität Lübeck (89/ 96). We thank H. Böttger for technical assistance and S. Fischer and A. Priesmeyer for preparing the figures. We are grateful to Professor John Opitz (Montana, Lübeck, Salt Lake City) for critical reading of the manuscript.

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Research Area: Medical Genetics

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10.1007/s004390050513

Cite this

Zühlke, C., Hellenbroich, Y., Schaaff, F., Gehlken, U., Wessel, K., Schubert, T., Cervos-Navarro, J., Pickartz, H., & Schwinger, E. (1997). CAG repeat analyses in frozen and formalin-fixed tissues following primer extension preamplification for evaluation of mitotic instability of expanded SCA1 alleles. Human Genetics, 100(3-4), 339-344. https://doi.org/10.1007/s004390050513

@article{d89b69995dab49ce95a94f8c3ee64c63,

title = "CAG repeat analyses in frozen and formalin-fixed tissues following primer extension preamplification for evaluation of mitotic instability of expanded SCA1 alleles",

abstract = "Neurodegenerative disorders, including spinocerebellar ataxias (SCA), Huntington disease (HD) and dentatorubral-pallidoluysian atrophy (DRPLA), are associated with unstable CAG repeats. To investigate the mitotic stability of the repetitive element in the genes for SCA1, SCA3, HD, and DRPLA we extracted DNA from up to 13 tissue samples from four deceased individuals with progressive neurological disorders and neuropathological signs. Due to the formalin fixation of some tissues the genomic DNA was highly degraded and unsuitable for amplification of fragments longer than 150 bp. After size selection and primer extension preamplification, specific analyses could be performed even for expanded alleles. In all four patients the SCA1 mutation could be demonstrated, in one case with remarkable somatic heterogeneity of the elongated allele, whereas alleles of the normal range were stable in all tissues examined.",

author = "Christine Z{\"u}hlke and Yorck Hellenbroich and Franziska Schaaff and Ulrike Gehlken and Karl Wessel and Thomas Schubert and Jorge Cervos-Navarro and H. Pickartz and Eberhard Schwinger",

note = "Funding Information: Acknowledgements This work was supported by the Forschungs-f{\"o}rderungs-Programm der Medizinischen Universit{\"a}t L{\"u}beck (89/ 96). We thank H. B{\"o}ttger for technical assistance and S. Fischer and A. Priesmeyer for preparing the figures. We are grateful to Professor John Opitz (Montana, L{\"u}beck, Salt Lake City) for critical reading of the manuscript.",

year = "1997",

doi = "10.1007/s004390050513",

language = "English",

volume = "100",

pages = "339--344",

journal = "Human Genetics",

issn = "0340-6717",

publisher = "Oxford University Press",

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}

Zühlke, C, Hellenbroich, Y, Schaaff, F, Gehlken, U, Wessel, K, Schubert, T, Cervos-Navarro, J, Pickartz, H & Schwinger, E 1997, 'CAG repeat analyses in frozen and formalin-fixed tissues following primer extension preamplification for evaluation of mitotic instability of expanded SCA1 alleles', Human Genetics, vol. 100, no. 3-4, pp. 339-344. https://doi.org/10.1007/s004390050513

CAG repeat analyses in frozen and formalin-fixed tissues following primer extension preamplification for evaluation of mitotic instability of expanded SCA1 alleles. / Zühlke, Christine; Hellenbroich, Yorck; Schaaff, Franziska et al.
In: Human Genetics, Vol. 100, No. 3-4, 1997, p. 339-344.

Research output: Journal Articles › Journal articles › Research › peer-review

TY - JOUR

T1 - CAG repeat analyses in frozen and formalin-fixed tissues following primer extension preamplification for evaluation of mitotic instability of expanded SCA1 alleles

AU - Zühlke, Christine

AU - Hellenbroich, Yorck

AU - Schaaff, Franziska

AU - Gehlken, Ulrike

AU - Wessel, Karl

AU - Schubert, Thomas

AU - Cervos-Navarro, Jorge

AU - Pickartz, H.

AU - Schwinger, Eberhard

N1 - Funding Information: Acknowledgements This work was supported by the Forschungs-förderungs-Programm der Medizinischen Universität Lübeck (89/ 96). We thank H. Böttger for technical assistance and S. Fischer and A. Priesmeyer for preparing the figures. We are grateful to Professor John Opitz (Montana, Lübeck, Salt Lake City) for critical reading of the manuscript.

PY - 1997

Y1 - 1997

N2 - Neurodegenerative disorders, including spinocerebellar ataxias (SCA), Huntington disease (HD) and dentatorubral-pallidoluysian atrophy (DRPLA), are associated with unstable CAG repeats. To investigate the mitotic stability of the repetitive element in the genes for SCA1, SCA3, HD, and DRPLA we extracted DNA from up to 13 tissue samples from four deceased individuals with progressive neurological disorders and neuropathological signs. Due to the formalin fixation of some tissues the genomic DNA was highly degraded and unsuitable for amplification of fragments longer than 150 bp. After size selection and primer extension preamplification, specific analyses could be performed even for expanded alleles. In all four patients the SCA1 mutation could be demonstrated, in one case with remarkable somatic heterogeneity of the elongated allele, whereas alleles of the normal range were stable in all tissues examined.

AB - Neurodegenerative disorders, including spinocerebellar ataxias (SCA), Huntington disease (HD) and dentatorubral-pallidoluysian atrophy (DRPLA), are associated with unstable CAG repeats. To investigate the mitotic stability of the repetitive element in the genes for SCA1, SCA3, HD, and DRPLA we extracted DNA from up to 13 tissue samples from four deceased individuals with progressive neurological disorders and neuropathological signs. Due to the formalin fixation of some tissues the genomic DNA was highly degraded and unsuitable for amplification of fragments longer than 150 bp. After size selection and primer extension preamplification, specific analyses could be performed even for expanded alleles. In all four patients the SCA1 mutation could be demonstrated, in one case with remarkable somatic heterogeneity of the elongated allele, whereas alleles of the normal range were stable in all tissues examined.

UR - https://www.scopus.com/pages/publications/1842293985

U2 - 10.1007/s004390050513

DO - 10.1007/s004390050513

M3 - Journal articles

C2 - 9272152

AN - SCOPUS:1842293985

SN - 0340-6717

VL - 100

SP - 339

EP - 344

JO - Human Genetics

JF - Human Genetics

IS - 3-4

ER -

CAG repeat analyses in frozen and formalin-fixed tissues following primer extension preamplification for evaluation of mitotic instability of expanded SCA1 alleles

Abstract

Funding

Research Areas and Centers

UN SDGs

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