一个跨越亨廷顿舞蹈病基因可能位置的酵母人工染色体端粒克隆。

A yeast artificial chromosome telomere clone spanning a possible location of the Huntington disease gene.

作者信息

Bates G P, MacDonald M E, Baxendale S, Sedlacek Z, Youngman S, Romano D, Whaley W L, Allitto B A, Poustka A, Gusella J F

机构信息

Department of Genome Analysis, Imperial Cancer Research Fund, London, England.

出版信息

Am J Hum Genet. 1990 Apr;46(4):762-75.

PMID:2138410

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1683659/

Abstract

The Huntington disease (HD) gene has been mapped to the most distal subband of chromosome 4p. Analysis of recombination events has not provided an unequivocal location of the HD gene, but it indicates a position very close to the telomere as one possibility. We have constructed a yeast artificial chromosome (YAC) vector (containing a rare-cutter polylinker) for the cloning of mammalian telomeres, used it to prepare a BssHII-telomere library with DNA from an individual homozygous for HD, and have identified a 115-kb clone containing the telomere of 4p. One probable recombinant would confine the telomeric candidate location for the gene to the region covered by the YAC, which makes it possible that the clone described here contains the HD locus in its mutant form.

摘要

亨廷顿舞蹈病（HD）基因已被定位到4号染色体短臂的最远端亚带。对重组事件的分析尚未明确HD基因的位置，但表明其位置可能非常靠近端粒。我们构建了一种用于克隆哺乳动物端粒的酵母人工染色体（YAC）载体（含有稀有切割多接头），用它从一名HD纯合个体的DNA制备了一个BssHII-端粒文库，并鉴定出一个包含4号染色体短臂端粒的115 kb克隆。一种可能的重组体将把该基因的端粒候选位置限制在YAC覆盖的区域，这使得此处描述的克隆有可能包含突变形式的HD基因座。