一种与强直性肌营养不良密切连锁的19号染色体新ERCC1标记的物理和遗传图谱。
Physical and genetic mapping of a novel chromosome 19 ERCC1 marker showing close linkage with myotonic dystrophy.
作者信息
Shutler G, MacKenzie A E, Brunner H, Wieringa B, de Jong P, Lohman F P, Leblond S, Bailly J, Korneluk R G
机构信息
Division of Genetic, Children's Hospital of Eastern Ontario, Ottawa, Canada.
出版信息
Genomics. 1991 Mar;9(3):500-4. doi: 10.1016/0888-7543(91)90416-c.
Recent genetic linkage analyses have mapped the myotonic dystrophy locus to the region of 19q13.2-13.3 lying distal to the gene for creatine kinase subunit M (CKM). The human excision repair gene ERCC1 has also been mapped to this region of chromosome 19. A novel polymorphic DNA marker, pEO.8, has been isolated from a chromosome 19 ERCC1-containing cosmid that maps to a 300-kb NotI fragment encompassing both CKM and ERCC1. Genetic linkage analysis reveals close linkage between pEO.8 and myotonic dystrophy (DM) (zmax = 19.3, theta max = 0.01). Analysis of two key recombinant events suggests a mapping of DM distal to pEO.8 and CKM.
最近的基因连锁分析已将强直性肌营养不良基因座定位于19q13.2 - 13.3区域，该区域位于肌酸激酶亚基M（CKM）基因的远端。人类切除修复基因ERCC1也已定位于19号染色体的这一区域。一种新的多态性DNA标记pEO.8，是从一个含有19号染色体ERCC1的黏粒中分离出来的，它定位于一个300kb的NotI片段，该片段包含CKM和ERCC1。基因连锁分析显示pEO.8与强直性肌营养不良（DM）之间存在紧密连锁（z最大值 = 19.3，θ最大值 = 0.01）。对两个关键重组事件的分析表明，DM定位于pEO.8和CKM的远端。
Zotero 插件