Altherr M R, Smith B, MacDonald M E, Hall L, Wasmuth J J
Department of Biological Chemistry, College of Medicine, University of California, Irvine 92717.
Genomics. 1989 Oct;5(3):581-8. doi: 10.1016/0888-7543(89)90026-8.
A novel mildly repetitive DNA sequence that is reiterated approximately 20 times in the human genome has been isolated and characterized. Most of the repeat units are localized very near the terminus of the short arm of chromosome 4 (4p) in the region known to contain the Huntington disease (HD) gene. A cloned probe that detects the repeated sequence reveals a restriction fragment length polymorphism that is close to and/or distal to the most distal genetic locus on 4p. This probe, therefore, provides a new genetic marker very close to and possibly flanking the HD gene. In addition, this probe should prove very useful for detailed physical mapping of the most distal region of 4p around the HD gene. The few (two or three) copies of this repeat not located near the terminus of 4p are located near the ends of two other chromosomes, 14 and 21.
一种在人类基因组中约重复20次的新型轻度重复DNA序列已被分离和鉴定。大多数重复单元位于4号染色体短臂（4p）末端附近的已知含有亨廷顿舞蹈病（HD）基因的区域。检测该重复序列的克隆探针揭示了一种限制性片段长度多态性，其位于4p上最远端遗传位点附近和/或远端。因此，该探针提供了一个非常接近HD基因且可能位于其侧翼的新遗传标记。此外，该探针对于HD基因周围4p最远端区域的详细物理图谱绘制应非常有用。该重复序列位于4p末端附近的少数（两到三个）拷贝位于另外两条染色体14号和21号的末端附近。
