Hamel B C, Wesseling P, Renier W O, van den Helm B, Ropers H H, Kremer H, Mariman E C
Department of Human Genetics, University Hospital, Nijmegen, The Netherlands.
J Med Genet. 1999 Feb;36(2):140-3.
We report on a family with an X linked neurodegenerative disorder consisting of mental retardation, blindness, convulsions, spasticity, and early death. Neuropathological examination showed mild hypomyelination. By linkage analysis, the underlying genetic defect could be assigned to the pericentromeric region of the X chromosome with a maximum lod score of 3.30 at theta=0.0 for the DXS1204 locus with DXS337 and PGK1P1 as flanking markers.
我们报告了一个患有X连锁神经退行性疾病的家族，该疾病包括智力迟钝、失明、惊厥、痉挛和早亡。神经病理学检查显示轻度髓鞘形成不足。通过连锁分析，潜在的基因缺陷可定位于X染色体的着丝粒周围区域，在DXS1204位点，以DXS337和PGK1P1作为侧翼标记，在θ=0.0时最大lod分数为3.30。
