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| A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia | |
| 作者姓名： | Zhao GH Hu ZM Shen L Jiang H Ren ZJ Liu XM Xia K Guo P Pan Q Tang BS |
| 作者单位： | ZHAO Guo-hua(Department of Neurology,Xiangya Hospital,Central South University,Changsha,Hunan 410008,China;Department of Neurology,Second Affiliated Hospital,College of Medicine,Zhejiang University,Hangzhou,Zhejiang 310009,China);HU Zheng-mao,XIA Kun,PAN Qian(National Laboratory of Medical Genetics of China,Changsha,Hunan 410078,China);SHEN Lu,JIANG Hong,REN Zhi-jun,LIU Xiao-min,GUO Peng(Department of Neurology,Xiangya Hospital,Central South University,Changsha,Hunan 410008,China);TANG Bei-sha(Department of Neurology,Xiangya Hospital,Central South University,Changsha,Hunan 410008,China;National Laboratory of Medical Genetics of China,Changsha,Hunan 410078,China) |
| 基金项目： | National High Technology Research and Development Program of China (“863” Program),No. 2004AA227040;National Key Health Research Project Foundation of China during the 10th Five-Year Plan Period,No. 2004BA720A03;National Natural Science Foundation of China,No. 30300199 and No. 30671151; |
| 摘 要： | Background Hereditary spastic paraplegia （HSP） is a group of inherited neurodegenerative disorders with the shared characteristics of slowly progressive spasticity and weakness of the lower limbs. Thirteen loci for autosomal dominant HSP have been mapped. Methods A Chinese family with HSP was found in the Shandong province and Inner Mongolia Autonomous Region of China and genomic DNA of all 19 family members was isolated. After exclusion of known autosomal dominant loci, a genome wide scan and linkage analysis were performed. Results The known autosomal dominant loci of SPG3A, SPG4, SPG6, SPG8, SPG9, SPG10, SPG12, SPG13, SPG17, SPG19, SPG29, SPG31 and SPG33 were excluded by linkage analysis. The results of a genome wide scan demonstrated candidate linkage to a locus on chromosome 11 p14.1-p11.2, over an 18.88 cM interval between markers D11 S1324 and D11 S1933. A maximal, two point LOD score of 2.36 for marker D11S935 at a recombination fraction （e） of 0 and a multipoint LOD score of 2.36 for markers D11S1776, D11S1751, D11S1392, D11S4203, D11S935, D11S4083, and D11S4148 at θ=0, suggest linkage to this locus. Conclusion The HSP neuropathy in this family may represent a novel genetic entity, which will facilitate discovery of this causative gene. |
| 关 键 词： | 遗传性痉挛截瘫 常染色体显性 基因组 原因分析 |
A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia |
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| Zhao GH,Hu ZM,Shen L,Jiang H,Ren ZJ,Liu XM,Xia K,Guo P,Pan Q,Tang BS.A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia[J].Chinese Medical Journal,2008,121(5):430-434. | |
| Authors: | Zhao Guo-hua Hu Zheng-mao Shen Lu Jiang Hong Ren Zhi-jun Liu Xiao-min Xia Kun Guo Peng Pan Qian Tang Bei-sha |
| Affiliation: | 1. Department of Neurology,Xiangya Hospital,Central South University,Changsha,Hunan 410008,China;Department of Neurology,Second Affiliated Hospital,College of Medicine,Zhejiang University,Hangzhou,Zhejiang 310009,China 2. National Laboratory of Medical Genetics of China,Changsha,Hunan 410078,China 3. Department of Neurology,Xiangya Hospital,Central South University,Changsha,Hunan 410008,China 4. Department of Neurology,Xiangya Hospital,Central South University,Changsha,Hunan 410008,China;National Laboratory of Medical Genetics of China,Changsha,Hunan 410078,China |
| Abstract: | BACKGROUND: Hereditary spastic paraplegia (HSP) is a group of inherited neurodegenerative disorders with the shared characteristics of slowly progressive spasticity and weakness of the lower limbs. Thirteen loci for autosomal dominant HSP have been mapped. METHODS: A Chinese family with HSP was found in the Shandong province and Inner Mongolia Autonomous Region of China and genomic DNA of all 19 family members was isolated. After exclusion of known autosomal dominant loci, a genome wide scan and linkage analysis were performed. RESULTS: The known autosomal dominant loci of SPG3A, SPG4, SPG6, SPG8, SPG9, SPG10, SPG12, SPG13, SPG17, SPG19, SPG29, SPG31 and SPG33 were excluded by linkage analysis. The results of a genome wide scan demonstrated candidate linkage to a locus on chromosome 11p14.1-p11.2, over an 18.88 cM interval between markers D11S1324 and D11S1933. A maximal, two point LOD score of 2.36 for marker D11S935 at a recombination fraction (theta) of 0 and a multipoint LOD score of 2.36 for markers D11S1776, D11S1751, D11S1392, D11S4203, D11S935, D11S4083, and D11S4148 at theta=0, suggest linkage to this locus. CONCLUSION: The HSP neuropathy in this family may represent a novel genetic entity, which will facilitate discovery of this causative gene. |
| Keywords: | hereditary spastic paraplegia autosomal dominant genome wide scan LOD score |
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