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Huntington舞蹈病(HD)的产前筛查的基本原理,是用Harper提出的连锁DNA标记。该检查可用于母亲或父亲之一为患者、其后代有50%发病风险的孕妇。检查之目的足尽可能减少(或排除)HD基因传给胎儿的机会。关于HD的产前检查病例已有报告,所用探针是D4 S10位点,它和HD位点的重组率约为5%。最近Gilliam等人报道新的DNA标记,在有遗传缺陷0～1.5cM之间的一个位点(D4 S43)。对这些探针重组率的保守估计是2%。本文报导的病例,是母亲怀孕时发现胎儿有HD发病风险。而这一直系家族中患者都已死亡,故须从未发病的亲属着手分析。
The rationale for prenatal screening of Huntington’s Chorea (HD) is a linked DNA marker using Harper. This test can be used for one of the mothers or fathers, with 50% of pregnant women at risk of offspring. The purpose of the test is to minimize (or eliminate) the chance of transmission of the HD gene to the fetus. There have been reports of cases of prenatal examination of HD using the probe D4 S10 which has a recombination rate of about 5% with the HD site. Recently Gilliam et al. Reported a new DNA marker at a locus between 0 and 1.5 cM in genetic defects (D4 S43). A conservative estimate of these probe recombination rates is 2%. The case reported in this article is the risk of developing HD in the fetus when the mother is pregnant. All patients in this immediate family have died, so they must be analyzed by relatives who have never had any disease.