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从D4S10（G8）向亨廷顿舞蹈病基因的染色体跳跃

Chromosome jumping from D4S10 (G8) toward the Huntington disease gene.

作者信息

Richards J E, Gilliam T C, Cole J L, Drumm M L, Wasmuth J J, Gusella J F, Collins F S

机构信息

Howard Hughes Medical Institute, Department of Internal Medicine, University of Michigan, Ann Arbor 48109.

出版信息

Proc Natl Acad Sci U S A. 1988 Sep;85(17):6437-41. doi: 10.1073/pnas.85.17.6437.

DOI:10.1073/pnas.85.17.6437
PMID:2901098
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC281987/
Abstract

The gene for Huntington disease (HD) has been localized to the distal portion of the short arm of human chromosome 4 by linkage analysis. Currently, the two closest DNA markers are D4S10 (G8), located approximately equal to 3 centimorgans centromeric to HD, and D4S43 (C4H), positioned 0-1.5 centimorgans from HD. In an effort to move closer to the HD gene, with the eventual goal of identifying the gene itself, we have applied the technique of chromosome jumping to this region. A 200-kilobase jumping library has been constructed, and a jump from D4S10 has been obtained and its approximate distance verified by pulsed field gel electrophoresis. Two restriction fragment length polymorphisms have been identified at the jump locus, which is denoted D4S81. Linkage analysis of previously identified recombinants between D4S10 and HD or D4S10 and D4S43 shows that in two of five events the jump has crossed the recombination points. This unequivocally orients D4S10 and D4S81 on the chromosome, provides additional markers for HD, and suggests that recombination frequency in this region of chromosome 4 may be increased, so that the physical distance from D4S10 to HD may not be as large as originally suspected.

摘要

通过连锁分析，亨廷顿舞蹈病（HD）基因已被定位到人类第4号染色体短臂的远端部分。目前，两个最接近的DNA标记是D4S10（G8），位于距HD约3厘摩的着丝粒方向，以及D4S43（C4H），位于距HD 0 - 1.5厘摩处。为了更接近HD基因，最终目标是鉴定该基因本身，我们已将染色体跳跃技术应用于该区域。构建了一个200千碱基的跳跃文库，获得了从D4S10的一次跳跃，并通过脉冲场凝胶电泳验证了其大致距离。在跳跃位点鉴定出两个限制性片段长度多态性，该位点被命名为D4S81。对先前鉴定的D4S10与HD或D4S10与D4S43之间的重组体进行连锁分析表明，在五个事件中的两个事件中，跳跃跨越了重组点。这明确地确定了D4S10和D4S81在染色体上的方向，为HD提供了额外的标记，并表明4号染色体该区域的重组频率可能增加，因此从D4S10到HD的物理距离可能不像最初怀疑的那么大。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e000/281987/ba6cf45705ca/pnas00296-0221-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e000/281987/c70339b65e01/pnas00296-0220-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e000/281987/cf80fec08547/pnas00296-0220-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e000/281987/ba6cf45705ca/pnas00296-0221-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e000/281987/c70339b65e01/pnas00296-0220-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e000/281987/cf80fec08547/pnas00296-0220-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e000/281987/ba6cf45705ca/pnas00296-0221-a.jpg

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