Siniscalco M, Oberlé I, Melis P, Alhadeff B, Murray J, Filippi G, Mattioni T, Chen Y T, Furneaux H, Old L J
Istituto di Genetica Molecolare del CNR, Porto Conte Research and Training Laboratories, Sassari, Italy.
Am J Med Genet. 1991 Feb-Mar;38(2-3):357-62. doi: 10.1002/ajmg.1320380239.
This study narrows down the localization of the gene coding for the cerebellar degeneration-related protein (CDR 34) to the upper boundary of the FRAXA and reports the finding of two common RFLPs respectively identified at an RsaI site flanking the 3' end of the gene and at a Hincll site flanking its 5' end. Segregation analysis carried out in the CEPH-pedigrees for the new CDR/RsaI-RFLP versus other polymorphic loci of the region has established a tight linkage with the markers DXS105/DX98 and absence of measurable linkage with two clusters of markers respectively located proximally to the FRAXA (F9, DXS102, DXS51, and DXS369) or distally to it (DXS52, DXS304). In addition, two recombinants were found among 23 scorable sibs identified in the Sardinian pedigrees segregating for the Martin-Bell Syndrome (MBS) and the CDR/RsaI variants. The overall evaluation of the in situ and genetic data reported suggest that the CDR locus 1) is located at the upper boundary of the FRAXA site; 2) is distal to DXS51 and proximal to DXS 389; and 3) segregates in a close linkage association with the loci DXS98 and DXS105 and, to a lesser extent, with the locus for MBS.
本研究将编码小脑变性相关蛋白（CDR 34）的基因定位范围缩小至FRAXA的上边界，并报告了分别在该基因3'端侧翼的RsaI位点和5'端侧翼的Hincll位点发现的两种常见限制性片段长度多态性（RFLP）。在CEPH家系中针对新的CDR/RsaI-RFLP与该区域其他多态性位点进行的连锁分析已确定其与标记DXS105/DX98紧密连锁，且与分别位于FRAXA近端（F9、DXS102、DXS51和DXS369）或远端（DXS52、DXS304）的两组标记无明显连锁。此外，在撒丁岛家系中分离出的23个可计分同胞中发现了两个重组体，这些家系中存在马丁-贝尔综合征（MBS）和CDR/RsaI变异。对所报告的原位和遗传数据的综合评估表明，CDR基因座：1）位于FRAXA位点的上边界；2）位于DXS51远端且DXS 389近端；3）与DXS98和DXS105基因座紧密连锁，在较小程度上与MBS基因座连锁。
