Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q.
Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q.
复制标题
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。
DOI：
10.1086/302258
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发表时间：
1999
影响因子：
9.8
通讯作者：
Fink,JK
中科院分区：
文献类型：
--
作者：
Hedera,P;Rainier,S;Alvarado,D;Zhao,X;Williamson,J;Otterud,B;Leppert,M;Fink,JK
遗传性痉挛性截瘫（HSP）是一组临床和遗传异质性的疾病，其特征是隐性进行性痉挛性无力的腿。常染色体显性HSP的遗传位点存在于染色体2 p、14 q和15 q上。这些位点被排除在45%的常染色体显性HSP激酶，表明存在额外的常染色体显性HSP位点。我们分析了一个常染色体显性热休克蛋白的白种人家系，并确定了该疾病与染色体8 q上的微卫星标记之间的紧密连锁（重组分数0时最大两点LOD得分为5.51）。我们的研究结果清楚地建立了一个常染色体显性HSP的染色体8 q23 -24位点的存在。目前，该基因座在D8 S1804和D8 S1774之间跨越6.2 cM，并包括几个潜在的候选基因。在染色体8 q23 -24上鉴定这种新的HSP位点将有助于发现这种HSP基因，改善与该位点连锁的家庭的遗传咨询，并扩展我们将临床特征与不同HSP位点相关联的能力。
Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous group of disorders characterized by insidiously progressive spastic weakness in the legs. Genetic loci for autosomal dominant HSP exist on chromosomes 2p, 14q, and 15q. These loci are excluded in 45% of autosomal dominant HSP kindreds, indicating the presence of additional loci for autosomal dominant HSP. We analyzed a Caucasian kindred with autosomal dominant HSP and identified tight linkage between the disorder and microsatellite markers on chromosome 8q (maximum two-point LOD score 5.51 at recombination fraction 0). Our results clearly establish the existence of a locus for autosomal dominant HSP on chromosome 8q23-24. Currently this locus spans 6.2 cM between D8S1804 and D8S1774 and includes several potential candidate genes. Identifying this novel HSP locus on chromosome 8q23-24 will facilitate discovery of this HSP gene, improve genetic counseling for families with linkage to this locus, and extend our ability to correlate clinical features with different HSP loci.