利用连锁DNA标记对亨廷顿舞蹈症进行预测性检测。

Predictive testing for Huntington's disease with linked DNA markers.

作者信息

Brock D J, Mennie M, Curtis A, Millan F A, Barron L, Raeburn J A, Dinwoodie D, Holloway S, Crosbie A, Wright A

机构信息

Human Genetics Unit, University of Edinburgh.

出版信息

Lancet. 1989 Aug 26;2(8661):463-6. doi: 10.1016/s0140-6736(89)92084-9.

DOI:10.1016/s0140-6736(89)92084-9

PMID:2570183

Abstract

Availability of new DNA markers, more tightly linked to the Huntington's disease (HD) locus than the original G8 (D4S10) probes, has improved predictive accuracy for both presymptomatic and prenatal exclusion testing. 50 predictive tests were carried out on high-risk individuals. 6 of these were on first-trimester chorionic villus biopsy specimens; in 2 cases the HD gene was not transmitted to the fetus while in 4 cases no exclusion could be made. The remaining 44 tests were on adults with either 25 or 50% risk of manifesting the disease; 19 had a greatly increased risk and 25 a substantially decreased risk of HD. Family structures in Scotland are suitable for testing about 75% of potentially affected individuals, and the new generation of DNA markers makes virtually all families fully informative.

摘要

与最初的G8（D4S10）探针相比，与亨廷顿舞蹈病（HD）基因座联系更紧密的新DNA标记物的出现，提高了症状前和产前排除检测的预测准确性。对高危个体进行了50次预测检测。其中6次是对孕早期绒毛膜绒毛活检标本进行的检测；2例中HD基因未传递给胎儿，4例无法排除。其余44次检测针对的是有25%或50%发病风险的成年人；19例发病风险大幅增加，25例HD发病风险大幅降低。苏格兰的家庭结构适合对约75%可能受影响的个体进行检测，新一代DNA标记物几乎使所有家庭都具有充分的信息。