非特异性X连锁智力迟钝（MRX 47）基因位于Xq22.3-q24。
Gene for nonspecific X-linked mental retardation (MRX 47) is located in Xq22.3-q24.
作者信息
des Portes V, Soufir N, Carrié A, Billuart P, Bienvenu T, Vinet M C, Beldjord C, Ponsot G, Kahn A, Boué J, Chelly J
机构信息
INSERM U129-ICGM, Faculté de Médecine Cochin, Paris, France.
出版信息
Am J Med Genet. 1997 Oct 31;72(3):324-8. doi: 10.1002/(sici)1096-8628(19971031)72:3<324::aid-ajmg14>3.0.co;2-v.
We describe a large family with nonspecific X-linked mental retardation (MRX 47). An X-linked recessive transmission is suggested by the inheritance from the mothers in two generations of a moderate to severe form of mental retardation in six males, without any specific clinical findings. Two point linkage analysis demonstrated significant linkage between the disorder and two markers in Xq23 (Zmax = 3.75, theta = 0). Multipoint linkage analyses confirmed the significant linkage with a maximum lod score (Z = 3.96, theta = 0) at DXS1059. Recombination events observed with the flanking markers DXS1105 and DXS8067 delineate a 17 cM interval. This interval overlaps with several loci of XLMR disorders previously localized in Xq23-q24, which are reviewed herein.
我们描述了一个患有非特异性X连锁智力迟钝（MRX 47）的大家族。两代人中，六位男性从母亲那里遗传了中度至重度智力迟钝，且无任何特异性临床发现，提示为X连锁隐性遗传。两点连锁分析表明该疾病与Xq23的两个标记之间存在显著连锁（Zmax = 3.75，θ = 0）。多点连锁分析证实了与DXS1059处的最大对数优势分数（Z = 3.96，θ = 0）存在显著连锁。侧翼标记DXS1105和DXS8067观察到的重组事件划定了一个17厘摩的区间。该区间与先前定位于Xq23-q24的几种X连锁智力迟钝疾病的多个基因座重叠，本文对此进行了综述。
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