期刊文献+

WD基因内部及其两侧翼的微卫星多态快速检出Wilson's病基因携带者及症状前患者 被引量:2

Rapid detection of carrier in presymptomatic patients with WD using polymor phic microsatellites positioned in WD gene or flanking the locus
下载PDF
导出
摘要 Wilson's病(WD)的杂合子检识及症状前诊断是临床上的两大难题。本研究率先在国内应用多聚酶链式反应方法扩增WD基因内部及其两侧翼的微卫星多态-D135301、D13S133和D13S314,对12个WD家系的82名成员进行单体型连锁分析,判断出25名肯定携带者,18名正常纯合子及2名症状前患者,弥补了临床及生化诊断的不足,为WD的基因诊断提供了重要的新手段。 Polymorphuic microsatellites markers at D13 S301, D13S133 and D13S314 can be amplified by polymerase chain reaction and the alleleidentifications of these loci can be performed with denatuxing polyaCrylandde gel electrophotdsis. The variability of allele length at these loci makes them valuable for carrier detection and presylnptomatic diagnosis. In this study, we studied haplotypes of these markersin 82 individuals of 12 families with WD and founded 25 carriers, 18 normals and 2 presymptornatic patients. These findings have important implications for molecular diagnosis in the families with WD.
出处 《中国神经精神疾病杂志》 CSCD 北大核心 1996年第1期1-3,共3页 Chinese Journal of Nervous and Mental Diseases
基金 国家自然科学基金 福建省教委科研基金
关键词 肝豆状核变性 基因携带者 微卫星多态 早期诊断 Polymorphic microsatellite Wilson's disease Carrier Presymptomatic patient
  • 引文网络
  • 相关文献

参考文献3

  • 1王柠,临床神经病学杂志,1995年,8卷,69页
  • 2王柠,福建医学院学报,1994年,28卷,232页
  • 3刘道宽,神经病学,1991年

同被引文献32

  • 1吴恩惠,张云亭,白人驹,张本恕,江德华.脑型肝豆状核变性CT表现及与临床的关系[J].天津医药,1984(2):101-102. 被引量:8
  • 2张如旭,唐北沙,资晓宏,罗巍,夏昆,潘乾,龙志高,胡正茂,李小波.腓骨肌萎缩症GDAP1基因突变分析[J].中华医学遗传学杂志,2004,21(3):207-210. 被引量:21
  • 3徐评议,梁秀龄,刘焯霖,潘锡榜.Wilson’s病基因连锁分析及早期诊断和杂合子检出[J].中国神经精神疾病杂志,1996,22(2):69-71. 被引量:4
  • 4杨静芳,梁秀龄,马守忠,王丽娟,陈嵘,陈彪.74例肝豆状核变性患者中ATP7B基因七种新突变的发现[J].中华神经科杂志,2006,39(10):673-677. 被引量:20
  • 5Ala A, Walker AP, Ashkan K, et al. Wilson's disease. Lancet, 2007, 369: 397-408.
  • 6Roberts EA, Schilsky ML. A practice guideline on Wilson'disease. Hepatology, 2003, 37(6): 1 475-1 492.
  • 7Ferenci P. Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing. Hum Genet, 2006,120: 151-159.
  • 8Figus A, lampis R, Devoto M, et al.Carrier detection and early diagnosis of Wilson disease by restriction fragment length polymorphism analysis. J Med Genet, 1989,26(2): 78-82.
  • 9Gupta A, Maulik M, Nasipuri P, et al. Molecular diagnosis of Wilson disease using prevalent mutations and informative single-nueleotide polymorphism markers. Clin Chem, 2007, 53(9): 1 601-1 608.
  • 10Harmut H, Schmidt J. Introducing single-nucleotide polymorphism markers in the diagnosis of Wilson disease. Clin Chem,2007, 53(9): 1 568-1 569.

引证文献2

二级引证文献5

;
使用帮助 返回顶部