摘要
背景:遗传性共济失调各基因亚型的分布对于其流行病学规律及发病途径的分析有重要意义。目的:分析国内南方人群遗传性共济失调不同基因亚型的分布状况。设计:病例-对照观察。单位:中山大学附属第一医院神经科。对象:选择1998-09/2002-09中山大学附属第一医院神经科神经遗传门诊收治的36个遗传性共济失调家系中患者43例和散发遗传性共济失调患者38例;同时选择60名家系健康个体及随机选取的44名该院健康体检者作为对照,以上观察对象均自愿参加观察。方法:通过聚合酶链反应对不同突变基因位点三核苷酸重复片段进行扩增,然后用聚丙烯酰胺凝胶电泳和图像分析软件计算其长度,推算所有正常和异常扩增等位基因内三核苷酸重复次数。主要观察指标:遗传性共济失调患者不同基因亚型的分布状况。结果:所有观察对象均进入结果分析,无脱落。在接受检测的遗传性共济失调患者中,常染色体显性遗传的脊髓小脑性共济失调3型是最常见的类型,占42.0%,常染色体显性遗传的脊髓小脑性共济失调2,1,7,6,12型分别占7.4%,4.9%,3.7%,2.5%及1.2%,未检出常染色体显性遗传的脊髓小脑性共济失调8,10,17型以及齿状核红核苍白球路易体萎缩、Friedreich共济失调。结论:常染色体显性遗传的脊髓小脑性共济失调3型是国内南方人群最常见的基因型,遗传性共济失调的临床评估首先应针对常染色体显性遗传的脊髓小脑性共济失调3基因型进行。
BACKGROUND： It is of great importance to study the genotype distribution of hereditary ataxia in understanding its epidemiologie rule and pathogenetie pathway. OBJECTIVE： To analyze the distribution of different genotype of hereditary ataxia in south China. DESIGN： A ease-control observation. SETTING： Department of Neurology, the First Affiliated Hospital of Sun Yat-sen University. PARTICIPANTS： Forty-three patients （26 males and 17 females） with hereditary ataxia from 36 families and 38 patients with sporadic hereditary ataxia （24 males and 14 females） were selected from the Outpatient Clinic of Neurogenetics, Department of Neurology, the First Affiliated Hospital of Sun Yat-sen University between September 1998 and September 2002. At the same time, 60 healthy individuals from the patients＇ families and 44 randomly-selected healthy physical examinees were taken as controls. All the participants were enrolled voluntarily.METHODS： The fragments of trinucleotide repeats at different sites of mutant genes were amplified with polymerasc chain reaction （PCR）, and then the lengths were calculated with polyacrylamide gel electrophoresis and imaging analytical software. The repeated numbers of trinucleotide repeats in all the normal and abnormal amplified alleles were calculated respectively. MAIN OUTCOME MEASURES： Different genotype distribution in patients with hereditary ataxia. RESULTS： All the subjects were involved in the analysis of results. Of the detected patients with hereditary ataxia, the Machado-Joseph disease/spinocerebellar ataxia （SCA） 3 was the most common type of autosomal dominant SCA in South China, which was 42.0%, and was followed by SCA2 （7.4%）, SCA1 （4.9%）, SCA7 （3.7%）, SCA6 （2.5%）, SCA12 （1.2%）. No patient was detected to have SCA8, SCA10, SCA17 dentatorubropallidoluysian atrophy （DRPLA） and Friedreich ataxia （FRDA）. CONCLUSION： Autosomal dominant SCA3 is the most familiar genotype in South China. Clinical detection of hereditary ataxia should be done firstly aiming at the SCA3 genotype.
出处
《中国临床康复》
CSCD
北大核心
2006年第12期161-163,共3页
Chinese Journal of Clinical Rehabilitation
基金
卫生部临床学科重点建设项目资助课题(2001321)
"211工程"重点建设项目资助课题(98138)~~
