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一种新的DNA标记(D4S90)位于4号染色体短臂的末端,靠近亨廷顿舞蹈症基因。

A new DNA marker (D4S90) is located terminally on the short arm of chromosome 4, close to the Huntington disease gene.

作者信息

Youngman S, Sarfarazi M, Bucan M, MacDonald M, Smith B, Zimmer M, Gilliam C, Frischauf A M, Wasmuth J J, Gusella J F

机构信息

Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, United Kingdom.

出版信息

Genomics. 1989 Nov;5(4):802-9. doi: 10.1016/0888-7543(89)90122-5.

Abstract

Genetic linkage studies have mapped Huntington's disease (HD) to the distal portion of the short arm of chromosome 4 (4p16.3), 4 cM distal to D4S10 (G8). To date, no definite flanking marker has been identified. A new DNA marker, D4S90 (D5); which maps to the distal region of 4p16.3, is described. The marker was used in a genetic linkage study in the CEPH reference families with seven other markers at 4p16. The study, together with knowledge of the physical map of the region, places D4S90 as the most distal marker, 6 cM from D4S10. A provisional linkage study with HD gave a maximum lod score of 2.14 at a theta of 0.00 and no evidence of linkage disequilibrium. As D4S90 appears to be located terminally, it should play an important role in the accurate mapping and cloning of the HD gene.

摘要

遗传连锁研究已将亨廷顿舞蹈病(HD)定位于4号染色体短臂的远端部分(4p16.3),距离D4S10(G8)远端4厘摩。迄今为止,尚未鉴定出明确的侧翼标记。本文描述了一种新的DNA标记D4S90(D5),它定位于4p16.3的远端区域。该标记与4p16上的其他七个标记一起用于CEPH参考家系的遗传连锁研究。该研究结合该区域物理图谱的知识,将D4S90定位为最远端的标记,距离D4S10为6厘摩。对HD进行的一项初步连锁研究在θ为0.00时获得的最大对数优势得分为2.14,且没有连锁不平衡的证据。由于D4S90似乎位于末端,它应该在HD基因的精确定位和克隆中发挥重要作用。

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