Ropers Hans-Hilger, Hoeltzenbein Maria, Kalscheuer Vera, Yntema Helger, Hamel Ben, Fryns Jean-Pierre, Chelly Jamel, Partington Michael, Gecz Jozef, Moraine Claude
Max-Planck Institut für Molekulare Genetik, Ihnestrasse 73, D-14195 Berlin, Germany.
Trends Genet. 2003 Jun;19(6):316-20. doi: 10.1016/S0168-9525(03)00113-6.
Analysis of linkage intervals from 125 unrelated families with nonsyndromic X-linked mental retardation (NS-XLMR) has revealed that the respective gene defects are conspicuously clustered in defined regions of the human X-chromosome, with approximately 30% of all mutations being located on the proximal Xp. In 83% of these families, underlying gene defects are not yet known. Our observations should speed up the search for mutations that are still missing and pave the way for the molecular diagnosis of this common disorder.
对125个患有非综合征性X连锁智力迟钝（NS-XLMR）的无关家庭的连锁区间进行分析后发现，各自的基因缺陷明显聚集在人类X染色体的特定区域，所有突变中约30%位于Xp近端。在这些家庭中，83%的潜在基因缺陷尚不清楚。我们的观察结果应能加快寻找仍未找到的突变的速度，并为这种常见疾病的分子诊断铺平道路。
