非特异性x连锁智力迟钝基因(MRX55)位于Xp11。

Annales de genetique Pub Date : 1998-01-01
S C Deqaqi, M N'Guessan, J Forner, A Sbiti, C Beldjord, J Chelly, A Sefiani, V Des Portes
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引用次数: 0

摘要

描述了一个非特异性x连锁智力迟钝(MRX55)的新家族。从两名健康的中度智力低下女性中分离出三名男性,没有任何特定的临床、放射学或生物学特征,提示x连锁隐性遗传。两点连锁分析显示,该疾病与Xp11中多个标记存在显著的连锁关系(Zmax = 2.11, theta = 0);多点连锁分析证实了与最大负荷评分的显著联系(在theta = 0时,在DXS8012处Z = 2.11)。用两侧标记DXS1068和DXS1275观察到的重组事件在中心点周围区域划分了34厘米的间隔。在这个家族中指出的分配间隔与先前在Xp11中报道的几个MRX位点重叠,这些位点在这里进行了回顾。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A gene for non-specific X-linked mental retardation (MRX55) is located in Xp11.

A new family with a non-specific X-linked mental retardation (MRX55) is described. An X-linked recessive inheritance is suggested by the segregation from two healthy transmitting females of moderate mental retardation in three males, without any specific clinical, radiological or biological features. Two point linkage analysis demonstrated significant linkage between the disorder and several markers in Xp11 (Zmax = 2.11, theta = 0); multipoint linkage analyses confirmed the significant linkage with a maximum lod score (Z = 2.11 at theta = 0, at DXS8012). Recombination events observed with the flanking markers DXS1068 and DXS1275 delineate a 34 centimorgan interval in the pericentromeric region. The interval of assignment pointed out in this family overlaps with several MRX loci previously reported in Xp11 which are reviewed here in.

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