A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity.
A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity.
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常染色体显性“纯”遗传性痉挛性截瘫的新基因座映射到染色体 12q13，以及进一步遗传异质性的证据。
DOI：
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发表时间：
1999
影响因子：
9.8
通讯作者：
D. Rubinsztein
中科院分区：
文献类型：
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作者：
Evan Reid;A. Dearlove;Michael Rhodes;D. Rubinsztein
常染色体显性纯遗传性痉挛性截瘫（ADPHSP）的临床特征是缓慢进行性下肢痉挛。这种情况是遗传异质性的，基因座已被定位在染色体2p，8q，14q和15q。我们对一个ADPHSP大家族进行了全基因组连锁筛选，排除了与所有四个已知位点的连锁。对染色体12q上的标记的分析给出了在D12S1691处的峰值成对LOD得分为3.61，允许我们将ADPHSP的新位点（我们指定为“SPG10”的位点）分配到该区域。单倍型构建和重组事件的分析将SPG10基因座缩小到标记D12S368和D12S83之间的9.2 cM区域。此外，我们的数据强烈表明，至少有六个ADPHSP基因座，因为我们描述了一个进一步的家庭，其中连锁所有五个已知的ADPHSP基因座已被排除。
Autosomal dominant pure hereditary spastic paraplegia (ADPHSP) is clinically characterized by slowly progressive lower-limb spasticity. The condition is genetically heterogeneous, and loci have been mapped at chromosomes 2p, 8q, 14q, and 15q. We have performed a genomewide linkage screen on a large family with ADPHSP, in which linkage to all four previously known loci was excluded. Analysis of markers on chromosome 12q gave a peak pairwise LOD score of 3.61 at D12S1691, allowing us to assign a new locus for ADPHSP (a locus that we have designated "SPG10") to this region. Haplotype construction and analysis of recombination events narrowed the SPG10 locus to a 9.2-cM region between markers D12S368 and D12S83. In addition, our data strongly suggest that there are at least six ADPHSP loci, since we describe a further family in which linkage to all five known ADPHSP loci has been excluded.
常染色体显性遗传性痉挛性截瘫的新位点，位于 8q 染色体上。
影响因子：
9.8
作者：
Hedera,P;Rainier,S;Alvarado,D;Zhao,X;Williamson,J;Otterud,B;Leppert,M;Fink,JK
通讯作者：
Fink,JK
常染色体显性家族性痉挛性截瘫：与 15q 染色体紧密连锁。
影响因子：
9.8
作者：
Fink,JK;Wu,CT;Jones,SM;Sharp,GB;Lange,BM;Lesicki,A;Reinglass,T;Varvil,T;Otterud,B;Leppert,M
通讯作者：
Leppert,M