Weitkamp L R, Ferguson-Smith M A, Guttormsen S A, Huntzinger R S, Chaganti R S, German J, Schanfield M S
Ann Hum Genet. 1978 Oct;42(2):183-9. doi: 10.1111/j.1469-1809.1978.tb00648.x.
Two families in which aberrations involving chromosome no. 2 had been previously used for linkage studies have been re-examined using banding techniques to identify the breakage sites. In one family a (2; 10)(q21;q24) translocation was identified in individuals previously thought to have a pericentric inversion of chromosome no. 2. In the other, a fragile secondary constriction site was localized to 2q13, and it was shown by bromodeoxy uridine incorporation that the origin of the triradial chromosome no. 2 was by isochromatid breakage and non-disjunction rather than by selective endoreduplication. The three marker sites, 2q13, 2q21 and 10q24, have been analysed for their linkage relationships with 15 informative marker loci which have not yet been assigned to chromosomes other than no. 2 or no. 10. No significant evidence for linkage with any of the loci tested was found.
两个家族曾被用于2号染色体畸变的连锁研究，现利用显带技术重新检查以确定断裂位点。在一个家族中，之前被认为有2号染色体臂间倒位的个体，经鉴定存在(2; 10)(q21;q24)易位。在另一个家族中，一个脆性次缢痕位点定位于2q13，通过溴脱氧尿苷掺入法表明，三辐射2号染色体的起源是等染色单体断裂和不分离，而非选择性核内复制。对三个标记位点2q13、2q21和10q24与15个信息性标记基因座的连锁关系进行了分析，这些标记基因座尚未定位到2号或10号以外的染色体上。未发现与任何测试基因座存在显著连锁的证据。
