X连锁性肌病伴自噬过度（XMEA）与Xq28的连锁关系。

Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28.

作者信息

Villard L, des Portes V, Levy N, Louboutin J P, Recan D, Coquet M, Chabrol B, Figarella-Branger D, Chelly J, Pellissier J F, Fontes M

机构信息

INSERM U491, Université de la Méditerrannée, Faculté de Médecine La Timone, Marseille, France.

出版信息

Eur J Hum Genet. 2000 Feb;8(2):125-9. doi: 10.1038/sj.ejhg.5200432.

DOI:10.1038/sj.ejhg.5200432

PMID:10757644

Abstract

X-linked myopathy with excessive autophagy (XMEA, MIM 310440) is a rare inherited mild myopathy. We have used 32 polymorphic markers spanning the entire X chromosome to exclude most of the chromosome except the Xq28 region in a large XMEA family. Using three additional families for linkage analysis, we have obtained a significant two-point lod score with marker DXS1183 (Z = 2.69 at theta = 0). Multipoint linkage analysis confirmed the assignment of the disease locus with a maximal lod score of 2.74 obtained at recombination fraction zero. Linkage of XMEA to the Xq28 region is thus firmly established. In addition, we have ruled out the Emery-Dreifuss muscular dystrophy to be allelic with XMEA by direct sequencing of the emerin gene in three of our families.

摘要

X连锁伴自噬亢进性肌病（XMEA，MIM 310440）是一种罕见的遗传性轻度肌病。我们在一个大型XMEA家系中使用了覆盖整个X染色体的32个多态性标记，以排除除Xq28区域外的大部分染色体。通过另外三个家系进行连锁分析，我们在标记DXS1183处获得了显著的两点连锁lod分数（在θ=0时Z = 2.69）。多点连锁分析证实了疾病位点的定位，在重组率为零时获得的最大lod分数为2.74。因此，XMEA与Xq28区域的连锁关系得以牢固确立。此外，通过对我们三个家系中的emerin基因进行直接测序，我们排除了埃默里-德赖富斯肌营养不良症与XMEA等位的可能性。