围绕19号染色体强直性肌营养不良基因座的多点连锁图谱。

A multipoint linkage map around the locus for myotonic dystrophy on chromosome 19.

作者信息

Brunner H G, Smeets H, Lambermon H M, Coerwinkel-Driessen M, van Oost B A, Wieringa B, Ropers H H

机构信息

Department of Human Genetics, University Hospital, 6500HB Nijmegen, The Netherlands.

出版信息

Genomics. 1989 Oct;5(3):589-95. doi: 10.1016/0888-7543(89)90027-x.

DOI:10.1016/0888-7543(89)90027-x

Abstract

Employing 16 polymorphic DNA markers as well as the chromosome 19 centromere heteromorphism, we have performed a genetic linkage study in 26 families with myotonic dystrophy. Fourteen of these markers had been assigned previously to one of five different intervals of the 19cen-19q13.2 segment by using somatic cell hybrids. For the long arm of chromosome 19, a genetic map that encompasses 9 polymorphic markers and the DM gene has been constructed. Our studies indicate that the DM and CKMM genes map distal to the ApoC2-ApoE gene cluster and to the anonymous polymorphic markers D19S15 and D19S16, but proximal to the D19S22 marker. The orientation of DM and CKMM remains to be determined.

摘要

利用16个多态性DNA标记以及19号染色体着丝粒异态性，我们对26个肌强直性营养不良家族进行了遗传连锁研究。其中14个标记先前已通过体细胞杂种定位到19cen-19q13.2区段的五个不同区间之一。对于19号染色体的长臂，已构建了包含9个多态性标记和DM基因的遗传图谱。我们的研究表明，DM和CKMM基因定位于载脂蛋白C2-载脂蛋白E基因簇以及匿名多态性标记D19S15和D19S16的远端，但位于D19S22标记的近端。DM和CKMM的方向仍有待确定。

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