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Wilson’s病基因连锁分析及早期诊断和杂合子检出 被引量:4

The early diagnosis of Wilson's disease and carrier detection by genetic linkage analysis
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摘要 本文利用3个DNA标记探针对15个WD家系85名成员进行连锁分析,同时结合其临床铜生化检测结果。在40名同胞中,检出6名为症状前患者,15名为杂合子,10名为正常人,此结果在80%可信限内。结果表明,应用此三个DNA标记对WD基因进行连锁分析是有效的。 In this paper, we have used the polymorphisms of 3 DNA makers to make the genetic likage analysis, combining With the copper biochemical results, on 85 members in 15 Wilson's disease (WD)pedigress. It was shown that among 40 sibs of 15families with WD, six were presymtomatic cases,fifteen obligate carriers and 10 normal homozygous states. The results were within the 80% confideuce interval.Our data show that the DNA markers would. be very useful in genetic diagnosis of Wilson's disease by linkage analysis.
出处 《中国神经精神疾病杂志》 CAS CSCD 北大核心 1996年第2期69-71,共3页 Chinese Journal of Nervous and Mental Diseases
基金 国家教委博士点基金
关键词 限制性片段长度 多态性 基因诊断 肝豆状核变性 Wilson's disease Restriction fragment length Polymorphism genetic diagnosis
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  • 1徐评议,中山医科大学学报,1995年,16卷,17页

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