You Position: Home > Paper
Diagnosing Presymptomatical Wilson Disease Patients By Using Molecular Genetics Analysis
( views:156, downloads:12 )
- Author:
- No author available
- Journal Title:
- JOURNAL OF CHINESE PHYSICIAN
- Issue:
- 9
- DOI:
- 10.3760/cma.j.issn.1008-1372.2002.09.005
- Key Word:
- Wilson病;WND;症状前诊断;基因诊断
Abstract： 目的采用分子遗传学的方法,为Wilson病(WD)家系中症状前期WD患者明确诊断.方法采用与Wilson病致病基因紧密连锁的遗传标记,构建染色体单体型,分析先证者与待诊者的异同;检测待诊者是否存在与先证者相同的致病突变,寻找症状前期患者.结果在10个WD家系中找到了2例症状前期的WD患者,其中一例为仅1个月的婴儿;同时为一例血清铜蓝蛋白低于正常的携带者明确了诊断.结论采用染色体单体型分析结合突变检测的方法,能为WD家系中症状前期病人明确诊断,使之得到及时的治疗.
- [1]施小六,凌奇荷,夏家辉,等.染色体单体型分析及突变检测在Wilson病临床诊断中的应用[J].1999,(1).
- [2]R E, Tanzi,K, Petrukhin,I, Chernov,etc.The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene.[J].1993,5.
- [3]M, Frydman,B, Bonné-Tamir,L A, Farrer,etc.Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus.[J].1985,82.
- [4]P C, Bull,G R, Thomas,J M, Rommens,etc.The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene.[J].1993,5.
- [5]G R, Thomas,J R, Forbes,E A, Roberts,etc.The Wilson disease gene: spectrum of mutations and their consequences.[J].1995,9.
- [6]R H Houwen,J Juyn,T U Hoogenraad,etc.H714Q mutation in Wilson disease is associated with late, neurological presentation.[J].1995,32(6).
- [7]L A, Farrer,A M, Bowcock,J M, Hebert,etc.Predictive testing for Wilson's disease using tightly linked and flanking DNA markers.[J].1991,41.
- [8]J, Seidel,K, Caca,S G, Schwab,etc.Disturbed copper transport in humans. Part 2: mutations of the ATP7B gene lead to Wilson disease (WD).[J].2001,47 Online Pub.