Gene for non-specific X-linked mental retardation maps in the pericentromeric region.
Gene for non-specific X-linked mental retardation maps in the pericentromeric region.
复制标题
着丝粒周围区域非特异性 X 连锁智力迟钝图谱的基因。
DOI：
10.1002/ajmg.1320380210
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发表时间：
1991
期刊：
影响因子：
--
通讯作者：
A. Gal
中科院分区：
文献类型：
--
作者：
C. Samanns;R. Albrecht;M. Neugebauer;G. Neri;A. Gal
连锁分析进行了一个大的四代分离的非特异性X连锁精神发育迟滞的德国家庭。受影响的男性有中度智力障碍。言语迟缓、异常行为和多动症也有报道。头围和睾丸体积正常。细胞遗传学分析未能显示X染色体脆性位点或结构异常的证据。强制性携带者均未表现出任何临床症状。紧密连锁无重组在致病基因座（MRX 1）和多态性基因座DXS 7之间存在着显著的等位基因（lod值为1.74 ~ 2.05（Xp11.4-p11.3），MAOA（Xp11.3-p11.23），DXS255（Xp11.22）和DXS 159（Xq 12）表明，在这个家庭中负责疾病的基因映射在X染色体的着丝粒周围区域。用侧翼标记位点OTC（Xp21.1）和DXS 95（Xq21.2-q21.3）获得的连锁数据也与MRX 1基因的定位一致。可排除与Xp 22、Xq 22、Xq 24 -25或Xq 28基因座的紧密连锁。
Linkage analysis was carried out in a large four-generation German family segregating for non-specific X-linked mental retardation. Affected males have moderate intellectual handicap. Speech delay, deviant behaviour, and hyperactivity have also been reported. Head circumference and testicular volumes are normal. Cytogenetic analysis failed to show evidence for fragile site or structural abnormality of the X chromosome. None of the obligatory carriers shows any clinical symptoms. Close linkage without recombination (lod scores 1.74 to 2.05) has been found between the disease locus (MRX1) and the polymorphic DNA loci DXS7 (Xp11.4-p11.3), MAOA (Xp11.3-p11.23), DXS255 (Xp11.22), and DXS159 (Xq12) suggesting that the gene responsible for the disease in this family maps in the pericentromeric region of the X chromosome. Linkage data obtained with the flanking marker loci OTC (Xp21.1) and DXS95 (Xq21.2-q21.3) also were compatible with this localization of the MRX1 gene. Close linkage to loci from Xp22, Xq22, Xq24-25, or Xq28 could be excluded.