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应用D13S296位点多态性对肝豆状核变性家系的基因诊断 被引量:1

Detecting the polymorphism of D13S296 in chinese and applying in gene diagnosis of wilson disease
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摘要 目的评估中国人群肝豆状核变性(Wilson disease,WD)基因(WND)侧翼徽卫星DNA(STR)位点 D13S296的基因多态性及在WD基因诊断中的价值。方法采用聚合酶链反应(PCR)、变性聚丙烯酰胺凝胶电泳 和银染法分析98名无血缘关系中国人D13S296的片段长度多态性;并对19个WD家系进行STR连锁分析。结果 D13S296有18个等位片段,长度范围为106-140bp,多态信息含量(PIC)为0.906。共检出8例症状前患者,10例 基因携带者及14例正常人,4例未能确定,基因诊断率达88.87%。结论 D13S296在中国人群是优秀的多态性标 记,对WD基因诊断有重要价值。 Objective To investigate the polymorphism of the short tandem repeat (STR) locus,D13S296, which locating in flank of wilson disease(WD) gene (WND),and use it in gene diagnosis in WD. Methods The alleles of D13S296 were analyzed by using polymerase chain reaction (PCR), polyacrylamide gel electrophoresis (PAGE) and silver staining in 98 unrelated Chinese. Take STR linkage analysis in 19 WD families. Results in Chinese, D13S296 included 18 alleles, and the alleic size were 106 ~ 140bp, polymorphism information content (PIC) was 0.907. In 109 individuals of 19 WD families,we founded 8 presymptomatic patients, 10 carriers, 14 normal people,4 could not determined,the rate of gene diagnosis was 88. 87 %. Conclusion D13S296 was an excellent polymorphism marker in Chinese and was very important in gene diagnosis of WD.
出处 《中风与神经疾病杂志》 CAS CSCD 北大核心 2000年第4期212-214,共3页 Journal of Apoplexy and Nervous Diseases
基金 国家教委高等院校博士点学科专项科研基金!(编号9503106) 广东省科委自然科学基金资助!(编号950334)
关键词 微卫星DNA D13S296位点 基因诊断 肝豆状核变性 Wilson disease Short tandem repeats D13S296 locus Genetic polymorphisms Gene diagnosis
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