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编码L1(免疫球蛋白家族的一种神经粘附分子)的基因在小鼠和人类中位于X染色体上。

The gene encoding L1, a neural adhesion molecule of the immunoglobulin family, is located on the X chromosome in mouse and man.

作者信息

Djabali M, Mattei M G, Nguyen C, Roux D, Demengeot J, Denizot F, Moos M, Schachner M, Goridis C, Jordan B R

机构信息

CIML INSERM-CNRS, Marseille, France.

出版信息

Genomics. 1990 Aug;7(4):587-93. doi: 10.1016/0888-7543(90)90203-7.

Abstract

The murine and human genes for the L1 neural adhesion molecule were shown to lie on conserved regions of the X chromosome to which genes responsible for several neuromuscular diseases have been mapped and which are adjacent to the fragile site (FRAXA) associated with mental retardation. By pulsed-field gel mapping we have demonstrated physical linkage between the L1 gene and other genes located in Xq28: L1 lies between the eye pigment RCP, GCP locus and the glucose-6-phosphate dehydrogenase (G6PD) gene. This location is compatible with the implication of the L1 molecule in one of the X-linked neuromuscular diseases mapped to this region.

摘要

L1神经粘附分子的小鼠和人类基因位于X染色体的保守区域,一些神经肌肉疾病相关基因已被定位到该区域,且该区域与智力迟钝相关的脆性位点(FRAXA)相邻。通过脉冲场凝胶图谱分析,我们证明了L1基因与位于Xq28的其他基因存在物理连锁:L1基因位于眼色素RCP、GCP基因座和葡萄糖-6-磷酸脱氢酶(G6PD)基因之间。这一位置与L1分子在定位到该区域的一种X连锁神经肌肉疾病中的作用相符。

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