遗传性痉挛性截瘫的银综合征变异型定位于11号染色体q12 - q14，有证据表明该亚型存在遗传异质性。
The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype.
作者信息
Patel H, Hart P E, Warner T T, Houlston R S, Patton M A, Jeffery S, Crosby A H
机构信息
Medical Genetics, St. George's Hospital Medical School, Cranmer Terrace, Tooting, London SW17 0RE, United Kingdom.
出版信息
Am J Hum Genet. 2001 Jul;69(1):209-15. doi: 10.1086/321267. Epub 2001 May 25.
Abstract
The hereditary spastic paraplegias (HSPs) are a complex group of neurodegenerative disorders characterized by lower-limb spasticity and weakness. Silver syndrome (SS) is a particularly disabling dominantly inherited form of HSP, complicated by amyotrophy of the hand muscles. Having excluded the multiple known HSP loci, we undertook a genomewide screen for linkage of SS in one large multigenerational family, which revealed evidence for linkage of the SS locus, which we have designated "SPG17," to chromosome 11q12-q14. Haplotype construction and analysis of recombination events permitted the minimal interval defining SPG17 to be refined to approximately 13 cM, flanked by markers D11S1765 and D11S4136. SS in a second family was not linked to SPG17, demonstrating further genetic heterogeneity in HSP, even within this clinically distinct subtype.
摘要
遗传性痉挛性截瘫（HSPs）是一组复杂的神经退行性疾病，其特征为下肢痉挛和无力。西尔弗综合征（SS）是一种特别致残的显性遗传形式的HSP，伴有手部肌肉萎缩。在排除了多个已知的HSP基因座后，我们对一个大型多代家族进行了全基因组筛查以寻找SS的连锁关系，结果显示SS基因座（我们将其命名为“SPG17”）与11号染色体q12 - q14存在连锁证据。单倍型构建和重组事件分析使得定义SPG17的最小区间被精确定位到约13厘摩，两侧为标记D11S1765和D11S4136。第二个家族中的SS与SPG17没有连锁关系，这表明即使在这种临床特征明显的亚型中HSP也存在进一步的遗传异质性。
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