Graeber M B, Müller U
Institute of Neuropathology, Ludwig-Maximilians-University of Munich, Germany.
Brain Pathol. 1992 Oct;2(4):287-95. doi: 10.1111/j.1750-3639.1992.tb00706.x.
Dystonia and parkinsonism are two major representatives of movement disorders. The X-linked dystonia-parkinsonism syndrome (XDP) serves as a model system for the study of both dystonia and parkinsonism since both symptom complexes occur together and are inherited as Mendelian traits with very high penetrance. XDP, which is endemic to the Philippine island of Panay, originated by a single mutation ("genetic founder effect"), thus assuring homogeneity of the disorder at the molecular level. The disease locus, DYT3, has been assigned to the proximal long arm (Xq12-21.1) of the human X chromosome. A strategy is described to isolate this gene by positional cloning. The rationale of this strategy, the major methods involved and technical terms are explained.
肌张力障碍和帕金森病是运动障碍的两个主要代表。X连锁肌张力障碍-帕金森综合征（XDP）是研究肌张力障碍和帕金森病的模型系统，因为这两种症状复合体同时出现，并作为孟德尔性状以非常高的外显率遗传。XDP在菲律宾班乃岛流行，由单一突变（“遗传奠基者效应”）起源，从而确保了该疾病在分子水平上的同质性。疾病基因座DYT3已被定位到人类X染色体的近端长臂（Xq12-21.1）。本文描述了一种通过定位克隆分离该基因的策略。解释了该策略的原理、涉及的主要方法和技术术语。
