Tightly clustered 11q23 and 22q11 breakpoints permit PCR-based detection of the recurrent constitutional t(11;22)
Tightly clustered 11q23 and 22q11 breakpoints permit PCR-based detection of the recurrent constitutional t(11;22)
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DOI：
10.1086/303054
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发表时间：
2000-09-01
影响因子：
9.8
通讯作者：
Emanuel, BS
中科院分区：
文献类型：
--
作者：
Kurahashi, H;Shaikh, TH;Emanuel, BS
11q23 和 22q11 染色体上结构性 t(11;22) 断点处的富含 AT 的回文重复序列 (PATRR) 预计会诱导基因组不稳定，从而介导易位。基于 PCR 的 t(11;22) 易位检测系统已经开发出来，其 PCR 引物位于两条染色体的 PATRR 两侧，以检查 PATRR 在反复重排中的参与情况。对 40 个不相关的 t(11;22) 平衡易位携带者以及另外两个患有多余 der(22) 综合征的独立病例进行了分析，以比较他们的易位断点。从 t(11;22) 平衡易位的所有 40 个携带者的两个衍生染色体以及两个患有不平衡多余 der(22) 综合征的后代的 der(22) 中获得了类似的易位特异性连接片段，这表明所有情况下的断点都位于这些 PATRR 内，并且易位是通过类似的机制产生的。这种PCR策略为易位的快速诊断提供了一种便捷的技术，表明其可用于包括平衡易位携带者的家庭的产前和植入前诊断。
Palindromic AT-rich repeats (PATRRs) on chromosomes 11q23 and 22q11 at the constitutional t(11;22) breakpoint are predicted to induce genomic instability, which mediates the translocation. A PCR-based translocation-detection system for the t(11;22) has been developed with PCR primers flanking the PATRRs of both chromosomes, to examine the involvement of the PATRRs in the recurrent rearrangement. Forty unrelated carriers of the t(11;22) balanced translocation, plus two additional, independent cases with the supernumerary-der(22) syndrome, were analyzed to compare their translocation breakpoints. Similar translocation-specific junction fragments were obtained from both derivative chromosomes in all 40 carriers of the t(11;22) balanced translocation and from the der(22) in both of the offspring with unbalanced supernumerary-der(22) syndrome, suggesting that the breakpoints in all cases localize within these PATRRs and that the translocation is generated by a similar mechanism. This PCR strategy provides a convenient technique for rapid diagnosis of the translocation, indicating its utility for prenatal and preimplantation diagnosis in families including carriers of the balanced translocation.