常染色体隐性遗传性痉挛性截瘫的一个新基因座定位于16号染色体q24.3区域。
A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3.
作者信息
De Michele G, De Fusco M, Cavalcanti F, Filla A, Marconi R, Volpe G, Monticelli A, Ballabio A, Casari G, Cocozza S
机构信息
Department of Neurology, Federico II University, Naples, Italy.
出版信息
Am J Hum Genet. 1998 Jul;63(1):135-9. doi: 10.1086/301930.
Abstract
Hereditary spastic paraplegia is a genetically and phenotypically heterogeneous disorder. Both pure and complicated forms have been described, with autosomal dominant, autosomal recessive, and X-linked inheritance. Various loci (SPG1-SPG6) associated with this disorder have been mapped. Here, we report linkage analysis of a large consanguineous family affected with autosomal recessive spastic paraplegia with age at onset of 25-42 years. Linkage analysis of this family excluded all previously described spastic paraplegia loci. A genomewide linkage analysis showed evidence of linkage to chromosome 16q24.3, with markers D16S413 (maximum LOD score 3.37 at recombination fraction [theta] of .00) and D16S303 (maximum LOD score 3.74 at straight theta=.00). Multipoint analysis localized the disease gene in the most telomeric region, with a LOD score of 4.2. These data indicate the presence of a new locus linked to pure recessive spastic paraplegia, on chromosome 16q24.3, within a candidate region of 6 cM.
摘要
遗传性痉挛性截瘫是一种遗传和表型均异质性的疾病。已描述了单纯型和复杂型，其遗传方式包括常染色体显性遗传、常染色体隐性遗传和X连锁遗传。与该疾病相关的多个位点（SPG1-SPG6）已被定位。在此，我们报告了一个患常染色体隐性痉挛性截瘫的大家族的连锁分析，其发病年龄在25至42岁之间。对该家族的连锁分析排除了所有先前描述的痉挛性截瘫位点。全基因组连锁分析显示与16号染色体q24.3存在连锁证据，标记为D16S413（在重组率[θ]为0.00时最大对数优势分数为3.37）和D16S303（在直接θ = 0.00时最大对数优势分数为3.74）。多点分析将疾病基因定位在最末端区域，对数优势分数为4.2。这些数据表明在16号染色体q24.3上一个6厘摩的候选区域内存在一个与单纯隐性痉挛性截瘫相关的新位点。
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本文引用的文献
1
Parametric and nonparametric linkage analysis: a unified multipoint approach.参数和非参数连锁分析：一种统一的多点方法。
Am J Hum Genet. 1996 Jun;58(6):1347-63.
2
Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group.遗传性痉挛性截瘫：遗传学研究进展。遗传性痉挛性截瘫工作组。
Neurology. 1996 Jun;46(6):1507-14. doi: 10.1212/wnl.46.6.1507.
3
A comprehensive genetic map of the human genome based on 5,264 microsatellites.基于5264个微卫星构建的人类基因组综合遗传图谱。
Nature. 1996 Mar 14;380(6570):152-4. doi: 10.1038/380152a0.
4
Hereditary "pure" spastic paraplegia: a study of nine families.遗传性“单纯”痉挛性截瘫：对九个家族的研究。
J Neurol Neurosurg Psychiatry. 1993 Feb;56(2):175-81. doi: 10.1136/jnnp.56.2.175.
5
Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q.常染色体显性遗传性家族性痉挛性截瘫具有遗传异质性，其中一个基因座定位于14号染色体长臂。
Nat Genet. 1993 Oct;5(2):163-7. doi: 10.1038/ng1093-163.
6
The phenotype of "pure" autosomal dominant spastic paraplegia.“纯合”常染色体显性遗传性痉挛性截瘫的表型
Neurology. 1994 Jul;44(7):1274-7. doi: 10.1212/wnl.44.7.1274.
7
X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus.X连锁痉挛性截瘫和佩利措伊斯-梅茨巴赫病是位于蛋白脂质蛋白基因座的等位基因疾病。
Nat Genet. 1994 Mar;6(3):257-62. doi: 10.1038/ng0394-257.
8
Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity.
Hum Mol Genet. 1994 Aug;3(8):1263-7. doi: 10.1093/hmg/3.8.1263.
9
X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene.X连锁痉挛性截瘫（SPG1）、MASA综合征和X连锁脑积水是由L1基因的突变引起的。
Nat Genet. 1994 Jul;7(3):402-7. doi: 10.1038/ng0794-402.
10
Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers.常染色体显性遗传性家族性痉挛性截瘫基因座与2号染色体短臂标记的连锁关系。
Hum Mol Genet. 1994 Oct;3(10):1867-71. doi: 10.1093/hmg/3.10.1867.
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