常染色体显性遗传性家族性痉挛性截瘫：与15号染色体长臂紧密连锁。
Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q.
作者信息
Fink J K, Wu C T, Jones S M, Sharp G B, Lange B M, Lesicki A, Reinglass T, Varvil T, Otterud B, Leppert M
机构信息
Department of Neurology, University of Michigan, Ann Arbor.
出版信息
Am J Hum Genet. 1995 Jan;56(1):188-92.
Abstract
Autosomal dominant, uncomplicated familial spastic paraplegia (FSP) is a genetically heterogeneous disorder characterized by insidiously progressive lower-extremity spasticity. Recently, a locus on chromosome 14q was shown to be tightly linked with the disorder in one of three families. We performed linkage analysis in a kindred with autosomal dominant uncomplicated FSP. After excluding the chromosome 14q locus, we observed tight linkage of the disorder to a group of markers on chromosome 15q (maximum two-point lod score 9.70; theta = .05). Our results clearly establish the existence of a locus for autosomal dominant FSP in the centromeric region of chromosome 15q. Comparing clinical and genetic features in FSP families linked to chromosome 14q with those linked to chromosome 15q may provide insight into the pathophysiology of this disorder.
摘要
常染色体显性、无并发症的家族性痉挛性截瘫（FSP）是一种具有遗传异质性的疾病，其特征为隐匿性进行性下肢痉挛。最近，在三个家族中的一个家族里，14号染色体长臂上的一个位点被证明与该疾病紧密连锁。我们对一个常染色体显性无并发症FSP的家族进行了连锁分析。在排除14号染色体长臂位点后，我们观察到该疾病与15号染色体长臂上的一组标记紧密连锁（最大两点连锁值9.70；重组率θ = 0.05）。我们的结果明确证实了在15号染色体长臂着丝粒区域存在一个常染色体显性FSP位点。比较与14号染色体长臂连锁的FSP家族和与15号染色体长臂连锁的FSP家族的临床和遗传特征，可能有助于深入了解该疾病的病理生理学。
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