一个复杂型遗传性痉挛性截瘫的基因座定位于1号染色体的1q24-q32区域。
A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24-q32.
作者信息
Blumen Sergiu C, Bevan Simon, Abu-Mouch Saif, Negus David, Kahana Michael, Inzelberg Rifka, Mazarib Aziz, Mahamid Ahmad, Carasso Ralph L, Slor Hanoch, Withers David, Nisipeanu Puiu, Navon Ruth, Reid Evan
机构信息
Department of Neurology, Hillel-Yaffe Medical Center, Hadera. Israel.
出版信息
Ann Neurol. 2003 Dec;54(6):796-803. doi: 10.1002/ana.10768.
We updated the clinical features of a consanguineous Arab Israeli family, in which four of seven children were affected by spastic paraplegia complicated by skin pigmentary abnormalities. A genomewide linkage screen performed for the family identified a new locus (SPG23) for this form of hereditary spastic paraplegia, in an approximately 25cM region of chromosome 1q24-q32, with a peak logarithm of odds score of 3.05.
我们更新了一个近亲通婚的阿拉伯裔以色列家庭的临床特征，该家庭七个孩子中有四个患有痉挛性截瘫，并伴有皮肤色素异常。对这个家庭进行的全基因组连锁分析在1号染色体1q24 - q32的大约25cM区域内确定了这种遗传性痉挛性截瘫的一个新位点（SPG23），最高对数优势评分为3.05。
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