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[亨廷顿舞蹈病的DNA诊断。4个受累家庭的应用及遗传咨询]

[DNA diagnosis of Huntington's chorea. Application and genetic counseling in 4 involved families].

作者信息

Hammer J, Mächler M, Schmid W

机构信息

Institut für Medizinische Genetik der Universität Zürich.

出版信息

Schweiz Med Wochenschr. 1987 Dec 19;117(51):2074-80.

PMID:2963376
Abstract

The discovery of linked DNA markers permits presymptomatic and prenatal diagnosis of autosomal-dominant Huntington's disease. However, family members born at 50% risk can find out if they have inherited the mutant gene only if family analyses are possible. Many individuals at risk lack a sufficient number of living relatives for presymptomatic testing. However, prenatal exclusion testing in pregnancy can be offered to most probands. In four case reports we demonstrate the first clinical use of these markers for genetic counselling in Switzerland. The method was used for both presymptomatic testing and prenatal diagnosis. Prenatal exclusion testing is described in one family. The general practitioner should be informed of the potentialities of DNA technology, since competent advice to his patients and follow-up of positive probands are part of his duties.

摘要

连锁DNA标记的发现使得常染色体显性遗传性亨廷顿舞蹈病的症状前诊断和产前诊断成为可能。然而,有50%患病风险的家庭成员只有在能够进行家系分析的情况下,才能知道自己是否继承了突变基因。许多有患病风险的个体缺乏足够数量在世的亲属来进行症状前检测。不过,大多数先证者在孕期可以接受产前排除检测。在4例病例报告中,我们展示了这些标记在瑞士首次用于遗传咨询的临床应用。该方法用于症状前检测和产前诊断。文中还描述了一个家庭的产前排除检测情况。全科医生应了解DNA技术的潜力,因为为患者提供专业建议并对检测结果呈阳性的先证者进行随访是其职责的一部分。

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