Bailly J, MacKenzie A E, Leblond S, Korneluk R G
Division of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.
Hum Genet. 1991 Mar;86(5):457-62. doi: 10.1007/BF00194633.
Recent studies have shown the gene encoding creatine kinase isoform M (CKMM) to be very closely linked to the myotonic dystrophy (DM) locus on the long arm of chromosome 19. Given this close linkage to DM and the postulated role of CKMM in skeletal muscle contraction, the possibility of a defect in CKMM causing DM was investigated. CKMM cDNA was isolated from the skeletal muscle of an individual with DM. Sequencing of the CKMM cDNA from the DM chromosome 19 revealed two novel polymorphisms but no translationally significant mutation. This work rules out a defect in the coding segment of CKMM as a cause of DM in this family and, in light of genetic homogeneity shown to date for DM, probably in all cases of DM.
最近的研究表明，编码肌酸激酶同工酶M（CKMM）的基因与19号染色体长臂上的强直性肌营养不良（DM）基因座紧密连锁。鉴于与DM的这种紧密连锁以及CKMM在骨骼肌收缩中的假定作用，研究了CKMM缺陷导致DM的可能性。从一名DM患者的骨骼肌中分离出CKMM cDNA。对来自19号染色体DM的CKMM cDNA进行测序，发现了两个新的多态性，但没有翻译上有意义的突变。这项工作排除了该家族中CKMM编码区段缺陷是DM病因的可能性，并且鉴于迄今为止DM所显示的基因同质性，可能在所有DM病例中都是如此。
