A combined genetic and radiation hybrid map surrounding the Treacher Collins syndrome locus on chromosome 5q.
A combined genetic and radiation hybrid map surrounding the Treacher Collins syndrome locus on chromosome 5q.
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围绕 5q 染色体 Treacher Collins 综合征基因座的组合遗传和辐射杂交图谱。
DOI：
10.1093/hmg/2.11.1785
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发表时间：
1993
影响因子：
3.5
通讯作者：
Dixon,MJ
中科院分区：
文献类型：
--
作者：
Loftus,SK;Edwards,SJ;Scherpbier-Heddema,T;Buetow,KH;Wasmuth,JJ;Dixon,MJ
染色体5 q的远端区域包含大量基因，包括与各种孟德尔疾病有关的基因。Treacher柯林斯综合征（TCOF 1）是一种常染色体显性遗传的颅面发育障碍，其特征包括传导性听力损失和腭裂。先前的研究已经将TCOF 1位点定位在D5 S519（近端）和D5 S519（远端）之间。为了更准确地定义这些标记之间的遗传距离，并扩展5 q31 - 33的高分辨率遗传图谱以包括额外的高信息标记，通过Centre d 'Etude du Polymorphisme Humain参考谱系绘制了15个基因座（包括4个已知基因的多态性）。由此产生的遗传图谱包括性别平均图谱上的29 cM。为了将该连锁图与该地区的物理图整合，利用5 q31 - 33的13个位点（包括6个基因）构建了辐射杂种图。由于两个图谱共有8个基因座，因此我们可以将两个图谱联合收割机结合起来。TCOF 1基因座在这个标记框架内最可能的位置是在D5 S519-E110间隔，该区域估计为约880 kb。
The distal region of chromosome 5q contains a large number of genes, including those implicated in a variety of Mendelian disorders. One of these, Treacher Collins syndrome (TCOF1), is an autosomal dominant disorder of craniofacial development the features of which include conductive hearing loss and cleft palate. Previous studies have localized the TCOF1 locus between D5S519 (proximal) and SPARC (distal). To more accurately define the genetic distance between these markers, and to extend a high resolution genetic map of 5q31 – 33 to include additional highly informative markers, 15 loci (including polymorphisms for 4 known genes) were mapped through the Centre d'Etude du Polymorphisme Humain reference pedigrees. The resulting genetic map encompasses 29 cM on the sex-averaged map. To help integrate this linkage map with a physical map of the region, 13 loci from 5q31 – 33, including 6 genes, were used to construct a radiation hybrid map. As eight of the loci are common to both maps this has allowed us to combine the maps. The most likely location for the TCOF1 locus within this marker framework is in the D5S519–SPARC interval; a region estimated to be approximately 880 kb.