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孕期使用紧密连锁的DNA标记对亨廷顿舞蹈病进行排除检测。

Exclusion testing for Huntington's disease in pregnancy with a closely linked DNA marker.

作者信息

Quarrell O W, Meredith A L, Tyler A, Youngman S, Upadhyaya M, Harper P S

出版信息

Lancet. 1987 Jun 6;1(8545):1281-3. doi: 10.1016/s0140-6736(87)90541-1.

Abstract

55 couples where one partner was at 50% risk of Huntington's disease (HD) were investigated with a DNA probe closely linked to HD, with a view to exclusion testing in a future pregnancy. In 3 of 9 pregnancies so far, HD was excluded in the absence of recombination. In 3 the risk was raised to around 50%, and in 2 exclusion tests were uninformative. The remaining couple changed their minds about termination of the pregnancy and the test was therefore judged inappropriate.

摘要

对55对夫妻进行了研究,其中一方患亨廷顿舞蹈症(HD)的风险为50%,使用与HD紧密连锁的DNA探针进行检测,目的是为未来的妊娠进行排除测试。在目前的9次妊娠中,有3次在未发生重组的情况下排除了HD。有3次风险提高到了约50%,还有2次排除测试无信息价值。剩下的一对夫妻改变了终止妊娠的想法,因此该测试被判定不合适。

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