X连锁新生儿肌管性肌病：利用来自Xq28的四个多态性DNA标记检测到一次重组。
X linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28.
作者信息
Lehesjoki A E, Sankila E M, Miao J, Somer M, Salonen R, Rapola J, de la Chapelle A
机构信息
Department of Medical Genetics, University of Helsinki, Finland.
出版信息
J Med Genet. 1990 May;27(5):288-91. doi: 10.1136/jmg.27.5.288.
A three generation family with X linked myotubular myopathy (MTM1) was studied with several polymorphic markers from the distal long arm of the X chromosome. A recombination between the disease gene and four markers (loci DXS52, DXS134, DXS15, F8C) from the Xq28 cluster was detected. A new polymorphic marker (U6.2) defining the locus DXS304 in the Xq27-28 region proximal to the Xq28 cluster did not show any recombination with MTM1. These results suggest the following order of loci in distal Xq: cen-DXS42-DXS105-(DXS304, MTM1)-(DXS52, DXS134, DXS15, F8C)-tel.
利用来自X染色体长臂远端的几个多态性标记，对一个患有X连锁型肌管性肌病（MTM1）的三代家系进行了研究。在疾病基因与来自Xq28基因簇的四个标记（DXS52、DXS134、DXS15、F8C位点）之间检测到了一次重组。一个在Xq28基因簇近端的Xq27 - 28区域定义DXS304位点的新的多态性标记（U6.2）与MTM1未显示任何重组。这些结果提示在Xq远端的基因座顺序如下：着丝粒 - DXS42 - DXS105 - （DXS304，MTM1） - （DXS52，DXS134，DXS15，F8C） - 端粒。
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