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X连锁新生儿中央核/肌管性肌病：与Xq28 DNA标记位点连锁的证据。

X linked neonatal centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci.

作者信息

Thomas N S, Williams H, Cole G, Roberts K, Clarke A, Liechti-Gallati S, Braga S, Gerber A, Meier C, Moser H

机构信息

Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff.

出版信息

J Med Genet. 1990 May;27(5):284-7. doi: 10.1136/jmg.27.5.284.

DOI:10.1136/jmg.27.5.284
PMID:2352256
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1017076/
Abstract

We have studied the inheritance of several polymorphic Xq27/28 DNA marker loci in two three generation families with the X linked neonatal lethal form of centronuclear/myotubular myopathy (XL MTM). We found complete linkage of XLMTM to all four informative Xq28 markers analysed, with GCP/RCP (Z = 3.876, theta = 0.00), with DXS15 (Z = 3.737, theta = 0.00), with DXS52 (Z = 2.709, theta = 0.00), and with F8C (Z = 1.020, theta = 0.00). In the absence of any observable recombination, we are unable to sublocalise the XLMTM locus further within the Xq28 region. This evidence for an Xq28 localisation may allow us to carry out useful genetic counselling within such families.

摘要

我们研究了两个患有X连锁新生儿致死型中央核/肌管性肌病（XL MTM）的三代家庭中几个多态性Xq27/28 DNA标记位点的遗传情况。我们发现XLMTM与分析的所有四个信息性Xq28标记完全连锁，与GCP/RCP（Z = 3.876，θ = 0.00）、与DXS15（Z = 3.737，θ = 0.00）、与DXS52（Z = 2.709，θ = 0.00）以及与F8C（Z = 1.020，θ = 0.00）连锁。由于没有观察到任何重组现象，我们无法在Xq28区域内进一步定位XLMTM基因座。Xq28定位的这一证据可能使我们能够在此类家庭中进行有用的遗传咨询。

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