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 - http://www.scopus.com/inward/record.url?scp=1842293985&partnerID=8YFLogxK
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 -
