肌张力障碍 - 帕金森综合征基因座DYT3定位于Xq13.1的一个1.8兆碱基酵母人工染色体（YAC）重叠群内的一个小区域。

Assignment of the dystonia-parkinsonism syndrome locus, DYT3, to a small region within a 1.8-Mb YAC contig of Xq13.1.

作者信息

Haberhausen G, Schmitt I, Köhler A, Peters U, Rider S, Chelly J, Terwilliger J D, Monaco A P, Müller U

机构信息

Institut für Humangenetik der Justus-Liebig-Universität Giessen, Germany.

出版信息

Am J Hum Genet. 1995 Sep;57(3):644-50.

PMID:7668293

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1801270/

Abstract

A YAC contig was constructed of Xq13.1 in order to sublocalize the X-linked dystonia-parkinsonism (XDP) syndrome locus, DYT3. The contig spans a region of approximately 1.8 Mb and includes loci DXS453/DXS348/IL2R gamma/GJB1/CCG1/DXS559. For the construction of the contig, nine sequence-tagged sites and four short tandem repeat polymorphisms (STRPs) were isolated. The STRPs, designated as 4704#6 (DXS7113), 4704#7 (DXS7114), 67601 (DXS7117), and B4Pst (DXS7119) were assigned to a region flanked by DXS348 proximally and by DXS559 distally. Their order was DXS348/4704 #6/4704 #7/67601/B4Pst/DXS559. They were applied to the analysis of allelic association and of haplotypes in 47 not-obviously-related XDP patients and in 105 Filipino male controls. The same haplotype was found at loci 67601 (DXS7117) and B4Pst (DXS7119) in 42 of 47 patients. This percentage of common haplotypes decreased at the adjacent loci. The findings, together with the previous demonstration of DXS559 being the distal flanking marker of DYT3, assign the disease locus to a small region in Xq13.1 defined by loci 67601 (DXS7117) and B4Pst (DXS7119). The location of DYT3 was born out by the application of a newly developed likelihood method for the analysis of linkage disequilibrium.

摘要

构建了一个Xq13.1的酵母人工染色体（YAC）重叠群，以便将X连锁肌张力障碍-帕金森综合征（XDP）综合征基因座DYT3进行亚定位。该重叠群跨越约1.8 Mb的区域，包括基因座DXS453/DXS348/IL2Rγ/GJB1/CCG1/DXS559。为构建该重叠群，分离出9个序列标签位点和4个短串联重复多态性（STRP）。这些STRP被命名为4704#6（DXS7113）、4704#7（DXS7114）、67601（DXS7117）和B4Pst（DXS7119），它们被定位到一个区域，近端由DXS348界定，远端由DXS559界定。它们的顺序是DXS348/4704 #6/4704 #7/67601/B4Pst/DXS559。将它们应用于47例无明显亲缘关系的XDP患者和105名菲律宾男性对照的等位基因关联和单倍型分析。在47例患者中的42例中，基因座67601（DXS7117）和B4Pst（DXS7119）发现了相同的单倍型。在相邻基因座处，这种共同单倍型的比例下降。这些发现，连同先前证明DXS559是DYT3的远端侧翼标记，将疾病基因座定位到Xq13.1中由基因座67601（DXS7117）和B4Pst（DXS7119）界定的一个小区域。通过应用一种新开发的用于连锁不平衡分析的似然方法，证实了DYT3的定位。

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