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肝豆状核变性基因连锁图谱的研究
引用本文:徐评议,梁秀龄,刘焯霖.肝豆状核变性基因连锁图谱的研究[J].中山大学学报(医学科学版),1995(Z1).
作者姓名:徐评议  梁秀龄  刘焯霖
作者单位:中山医科大学附属第一医院神经科
摘    要:为寻找适于中国人Wilson氏病(WD)基因连锁分析的遗传标记及制定WD基因所在区域的遗传图谱,我们应用D13q14-21区域4个DNA标记对75名无亲缘关系个体及9个WD家系成品进行连锁分析。结果发现4个DNA标记中3个标记等位片段与白种人相同而杂合率相异,其中2个DNA标记D13S31,P123M1.8与WD基因存在紧密连锁关系。其遗传顺序为:着丝点-Rb-D13S31-WND。

关 键 词:肝豆状核变性/遗传学  限制性片区长度多态性,染色体图

TJE STIDY OF MAP OF WILSON'S DISEASEGENE BY LINKAGE ANALYSIS
Xu Pingyi,Liang Xiuling,Liu Zhuolin.TJE STIDY OF MAP OF WILSON'S DISEASEGENE BY LINKAGE ANALYSIS[J].Journal of Sun Yatsen University(Medical Sciences),1995(Z1).
Authors:Xu Pingyi  Liang Xiuling  Liu Zhuolin
Abstract:n this paper , to obtain DNA markers more closely linked to Wilson's disease gene (WD) in Chinese and constructed a genetic map of DNA markers within D13q14-21 which will refine the location of WD , the authors analyzed the segregation of 4 DNA markers within D13q14-21 in 75 unrelated normal Chinese individuals and members of 9 Chinese families with WD. The DNA analysis revealed the polymorphic alleles of 3 markers were the same in Chinese as in Caucasians but the allele frequencies were quite different , we confirmed a tight linkage between WD gene and 2 markers D13S31 , Rb. The genetic order was as follows : centromere - Rb - D13S31 -WND.
Keywords:epatolenticular degeneration/genetics  restriction fragment length polytnorphism  chromosome mapping  
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