MacDonald M E, Cheng S V, Zimmer M, Haines J L, Poustka A, Allitto B, Smith B, Whaley W L, Romano D M, Jagadeesh J
Molecular Neurogenetics Laboratory, Massachusetts General Hospital, Boston 02114.
J Clin Invest. 1989 Sep;84(3):1013-6. doi: 10.1172/JCI114222.
Five highly informative multiallele restriction fragment length polymorphisms (RFLPs) of value for preclinical diagnosis of Huntington's disease (HD) have been genetically characterized. One RFLP was uncovered by expansion of the D4S43 locus while three others are at D4S111 and D4S115, loci defined by NotI-linking clones. The final marker, D4S125, represents a recently discovered VNTR locus. All four loci map closer to the HD gene and to the telomere than D4S10, the original linked marker for HD. In combination with two multiallele RFLPs previously identified for D4S43 and another linked locus, D4S95, these five new multiallele markers will dramatically improve the speed and accuracy of predictive testing in HD, and increase its applicability by maximizing the chances of an informative test for anyone with appropriate family structure.
已对五种信息量丰富的多等位基因限制性片段长度多态性(RFLP)进行了遗传学特征分析,这些多态性对亨廷顿舞蹈病(HD)的临床前诊断具有重要价值。其中一种RFLP是通过D4S43位点的扩增发现的,另外三种位于D4S111和D4S115,这两个位点由NotI连接克隆定义。最后一个标记D4S125代表一个最近发现的VNTR位点。与最初与HD连锁的标记D4S10相比,所有这四个位点都更靠近HD基因和端粒。这五个新的多等位基因标记与之前为D4S43和另一个连锁位点D4S95鉴定的两个多等位基因RFLP相结合,将极大地提高HD预测性检测的速度和准确性,并通过最大限度地增加对任何具有适当家族结构的人进行信息性检测的机会来扩大其适用性。