19号染色体上肌酸激酶（CKMM）与强直性肌营养不良的紧密连锁。

Tight linkage of creatine kinase (CKMM) to myotonic dystrophy on chromosome 19.

作者信息

Yamaoka L H, Pericak-Vance M A, Speer M C, Gaskell P C, Stajich J, Haynes C, Hung W Y, Laberge C, Thibault M C, Mathieu J

机构信息

Department of Medicine, Duke University Medical Center, Durham, NC 27710.

出版信息

Neurology. 1990 Feb;40(2):222-6. doi: 10.1212/wnl.40.2.222.

DOI:10.1212/wnl.40.2.222

PMID:2300239

Abstract

The myotonic dystrophy (DM) gene is localized to the proximal long arm of chromosome 19. There have been reports of tight linkage to a number of chromosome 19 markers, including APOC2 and creatine kinase muscle type (CKMM), but they did not establish orientation of the 2 markers to DM. We screened several large multi-generational DM families for linkage to a series of chromosome 19 markers including CKMM. CKMM is tightly linked to DM in these data with z(theta) = 28.41; theta = 0.01. Analysis of cross-over data indicates CKMM is on the same side and closer to DM than APOC2. Thus, CKMM is a useful probe for carrier detection studies in presymptomatic individuals as well as for prenatal diagnosis.

摘要

强直性肌营养不良（DM）基因定位于19号染色体长臂近端。已有报道称其与包括载脂蛋白C2（APOC2）和肌型肌酸激酶（CKMM）在内的多个19号染色体标记紧密连锁，但这些报道并未确定这两个标记与DM的方向关系。我们对几个大型多代DM家系进行筛查，以确定其与包括CKMM在内的一系列19号染色体标记的连锁关系。在这些数据中，CKMM与DM紧密连锁，z(θ) = 28.41；θ = 0.01。对交叉数据的分析表明，CKMM与DM在同一侧，且比APOC2更靠近DM。因此，CKMM是对症状前个体进行携带者检测研究以及产前诊断的有用探针。