FMR1基因中的前突变作为帕金森病相关帕金森病的修饰因子？
Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease?
作者信息
Hedrich Katja, Pramstaller Peter P, Stübke Katrin, Hiller Anja, Kabakci Kemal, Purmann Sabine, Kasten Meike, Scaglione Cesa, Schwinger Eberhard, Volkmann Jens, Kostic Vladimir, Vieregge Peter, Martinelli Paolo, Abbruzzese Giovanni, Klein Christine, Zühlke Christine
机构信息
Department of Human Genetics, University of Lübeck, Lübeck, Germany.
出版信息
Mov Disord. 2005 Aug;20(8):1060-2. doi: 10.1002/mds.20512.
Premutations in the FMR1 gene may be associated with some cases of parkinsonism. To test this hypothesis, we determined the CGG repeat number in FMR1 in 673 individuals with and without parkinsonism and detected 3 premutation carriers (2 patients, 1 control). Of note, 1 of the affected premutation carriers had a heterozygous Parkin mutation.
FMR1基因的前突变可能与某些帕金森症病例相关。为验证这一假设，我们测定了673例有或无帕金森症个体的FMR1基因中CGG重复序列的数量，检测到3名前突变携带者（2例患者，1例对照）。值得注意的是，1例受影响的前突变携带者存在杂合型帕金基因突变。
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