Deqaqi S C, N'Guessan M, Forner J, Sbiti A, Beldjord C, Chelly J, Sefiani A, Des Portes V
Département de Génétique et de Biologie Moléculaire INH, Rabat, Maroc.
Ann Genet. 1998;41(1):11-6.
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.
本文描述了一个患有非特异性X连锁智力障碍（MRX55）的新家族。三名男性患有中度智力障碍，而两名健康的女性携带者未患病，由此推测该疾病为X连锁隐性遗传，且无任何特定的临床、放射学或生物学特征。两点连锁分析表明该疾病与Xp11中的几个标记之间存在显著连锁（Zmax = 2.11，θ = 0）；多点连锁分析证实了与最大对数优势分数（在θ = 0时，DXS8012处Z = 2.11）存在显著连锁。侧翼标记DXS1068和DXS1275观察到的重组事件在着丝粒周围区域划定了一个34厘摩的区间。该家族中确定的定位区间与先前在Xp11中报道的几个MRX位点重叠，本文对此进行了综述。
