X连锁肌管性肌病基因位于Xq27.3和Xq28边界处一个8兆碱基的区域。

The gene for X-linked myotubular myopathy is located in an 8 Mb region at the border of Xq27.3 and Xq28.

作者信息

Janssen E A, Hensels G W, van Oost B A, Hamel B C, Kemp S, Baas F, Weber J W, Barth P G, Bolhuis P A

机构信息

Department of Neurology, Academical Medical Center, Amsterdam, The Netherlands.

出版信息

Neuromuscul Disord. 1994 Sep-Nov;4(5-6):455-61. doi: 10.1016/0960-8966(94)90084-1.

DOI:10.1016/0960-8966(94)90084-1

PMID:7881289

Abstract

X-linked recessive myotubular myopathy (XLMTM) is a rare and severe neonatal neuromuscular disease characterized by muscle weakness, hypotonia, and respiratory problems. Here we report an extensive linkage analysis in two families with XLMTM. Using 18 markers in the Xq27-Xqter region we found a maximum two-point lod score of Z = 4.00 at theta = 0.00 for the marker II-10 (DXS466). Three recombinations were detected between markers and the disease locus. At the distal side of Xq27.3 a recombination was present in between RNI (DXS369) and VK23b (DXS297), another in between VK23b (DXS297) and II-10 (DXS466), and at the proximal side of Xq28 a recombination in between U6.2 (DXS304) and Cpx67 (DXS134). Combining the results of both families we conclude that XLMTM is located in the 8 Mb(11 cM) region between VK23b (DXS297) and Cpx67 (DXS134).

摘要

X连锁隐性肌管性肌病（XLMTM）是一种罕见且严重的新生儿神经肌肉疾病，其特征为肌肉无力、肌张力减退和呼吸问题。在此，我们报告了对两个患有XLMTM的家系进行的广泛连锁分析。在Xq27 - Xqter区域使用18个标记物，我们发现标记物II - 10（DXS466）在θ = 0.00时的最大两点连锁值Z = 4.00。在标记物与疾病位点之间检测到三次重组。在Xq27.3的远端，RNI（DXS369）和VK23b（DXS297）之间存在一次重组，VK23b（DXS297）和II - 10（DXS466）之间存在另一次重组，在Xq28的近端，U6.2（DXS304）和Cpx67（DXS134）之间存在一次重组。综合两个家系的结果，我们得出结论，XLMTM位于VK23b（DXS297）和Cpx67（DXS134）之间8 Mb（11 cM）的区域。