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遗传性脊髓小脑型共济失调7型三家系临床特征及分子生物学研究
引用本文:Song XW,Tang BS,Jiang H,Shen L,Yang Q,Liao SS,Li QH,Liang XC,Tang JG. 遗传性脊髓小脑型共济失调7型三家系临床特征及分子生物学研究[J]. 中华医学杂志, 2006, 86(25): 1755-1758
作者姓名:Song XW  Tang BS  Jiang H  Shen L  Yang Q  Liao SS  Li QH  Liang XC  Tang JG
作者单位:410008,长沙,中南大学湘雅医院神经内科
基金项目:国家“863”高技术研究发展计划基金资助项目(2004AA227040);国家科技攻关计划基金资助项目(2004BA720A03);国家自然科学基金资助项目(30400262)
摘    要:目的研究中国人遗传性脊髓小脑型共济失调7型(SCA7)的临床和分子生物学特征。方法应用聚合酶链反应、聚丙烯酰胺凝胶电泳、毛细管电泳等技术,检测临床诊断为脊髓小脑型共济失调(SCA)的184个家系245例患者和71例散发SCA患者以及163名正常人的SCA7基因内CAG三核苷酸重复次数,对异常等位基因片段进行DNA测序,并对其中一个大家系进行连锁分析。结果检出3个SCA7家系(15例患者),阳性率为1.6%,测序证实异常等位基因的CAG重复次数为38-71次,其他SCA患者以及正常人的SCA7等位基因CAG重复次数为6-15次。其中2个家系存在遗传早现现象,特别在父系遗传时更明显。对其中一个家系进行连锁分析结果在微卫星标记D3S1300处获得两点最大LOD值为2.82(θ=0.00)。结论SCA7是少见的SCA亚型。SCA7基因异常重复突变是SCA7的致病原因,38次CAG重复是目前国内报道的SCA7最小的病理性扩增。

关 键 词:脊髓小脑共济失调 三核苷酸重复扩增 连锁(遗传学)
收稿时间:2006-01-20
修稿时间:2006-01-20

Clinical characteristics and molecular biology of hereditary spinocerebellar ataxia type 7: study of 3 Chinese families
Song Xing-Wang,Tang Bei-sha,Jiang Hong,Shen Lu,Yang Qian,Liao Shu-sheng,Li Qing-hua,Liang Xiao-chun,Tang Jian-guang. Clinical characteristics and molecular biology of hereditary spinocerebellar ataxia type 7: study of 3 Chinese families[J]. Zhonghua yi xue za zhi, 2006, 86(25): 1755-1758
Authors:Song Xing-Wang  Tang Bei-sha  Jiang Hong  Shen Lu  Yang Qian  Liao Shu-sheng  Li Qing-hua  Liang Xiao-chun  Tang Jian-guang
Affiliation:Department of Neurology, Xiangya Hospital of Central South University, Changsha 410008, China
Abstract:Objective To study the clinical characteristics and molecular biology of hereditary spinocerebellar ataxia type 7 ( SCA7) . Methods Peripheral blood samples were collected from 245 with autosomal dominant SCA from 184 families and 71 sporadic SCA patients. Polymerase chain reaction, polyacrylamide gel electrophoresis, and capillary electrophoresis technique were used to detect the SCA7 (CAG) n trinucleotide repeat mutations. 163 healthy persons were used as controls. The abnormal allele fragments were sequenced by ABI 377 DNA sequencing machine. Results Three SCA families with 15 patients were identified with a positive rate of 1. 6%. DNA sequencing showed that the abnormal SCA7 alleles with CAG repeat were expanded to 38 to 71 repeats, and the normal SCA7 alleles were carried from 6 to 15 CAG repeats. Analysis of parent-child couples demonstrated the existence of marked anticipation in 2 families,especially in paternal transmission. Linkage analysis found a maximum two-point LOD score of 2. 82 in the microsatellite D3S1300 at recombination fraction (9 =0.00). Conclusion CAG expansion is the pathogenic cause of SCA7, a rare subtype of SCA. The 38 CAG is the minimum pathological expansion in mainland China.
Keywords:Spinocerebellar ataxia  Trinucleotide repeat expansion  Linkage ( genetics)
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