非综合征性X连锁智力障碍：MRX58基因定位于着丝粒周围区域。
Nonsyndromic X-linked mental retardation: mapping of MRX58 to the pericentromeric region.
作者信息
Holinski-Feder E, Chahrockh-Zadeh S, Rittinger O, Jedele K B, Gasteiger M, Lenski C, Murken J, Golla A
机构信息
Abteilung Medizinische Genetik der Kinderpoliklinik, München, Germany.
出版信息
Am J Med Genet. 1999 Sep 10;86(2):102-6. doi: 10.1002/(sici)1096-8628(19990910)86:2<102::aid-ajmg2>3.0.co;2-c.
An Austrian family with nonsyndromic X-linked mental retardation (MRX) is reported in which the obligatory carrier females are normal, and 5 affected males have mild to moderate mental retardation. Linkage analysis indicated an X pericentromeric localization, with flanking markers DXS989 and DXS1111 and a maximum multipoint LOD score of 2.09 (straight theta = 0) for the 7 cosegregating markers DXS1243, CybB, MAOB, DXS988, ALAS2, DXS991, and AR. MRX58 thus mapped within a 50-cM interval between Xp11.3 and Xq13.1 and overlapped with 23 other MRX families already described. This pericentromeric clustering of MRX families suggests allelism, with a minimum of 2 X-linked mental retardation (XLMR) genes in this region.
据报道，有一个奥地利家庭患有非综合征性X连锁智力迟钝（MRX），其中作为必然携带者的女性表现正常，5名患病男性有轻度至中度智力迟钝。连锁分析表明该基因位于X染色体着丝粒周围区域，侧翼标记为DXS989和DXS1111，7个共分离标记DXS1243、CybB、MAOB、DXS988、ALAS2、DXS991和AR的最大多点LOD得分为2.09（直接θ = 0）。因此，MRX58定位于Xp11.3和Xq13.1之间50厘摩的区间内，并与已描述的其他23个MRX家庭重叠。MRX家庭的这种着丝粒周围聚集现象提示存在等位基因，该区域至少有2个X连锁智力迟钝（XLMR）基因。
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